Abstract
The disorders discussed in this chapter all affect the connective or supporting tissues of the body. However, nearly all these diseases affect many systems of the body and could equally well have been classified in other groups; their inclusion here does not imply any fundamental biochemical relationship between them. They will be considered in the following order:
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1.
Pseudoxanthoma elasticum.
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2.
Marfan’s syndrome.
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3.
Weill-Marchesani syndrome.
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4.
Ehlers-Danlos syndrome.
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5.
Cutis laxa.
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6.
Striae distensae.
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7.
Dupuytren’s contracture and polyfibromatosis.
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8.
Osteopoikilosis and dermato-fibrosis lenticularis.
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9.
Melorheostosis.
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10.
Pleonosteosis.
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11.
Pachydermoperiostosis.
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12.
Cutis verticis gyrata.
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13.
Fibromatosis gingivae.
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14.
Werner’s syndrome.
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15.
Rothmund-Thomson syndrome.
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16.
Bloom’s syndrome.
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17.
Dyskeratosis congenita.
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18.
Cockayne’s syndrome.
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19.
Progeria.
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20.
Acrogeria.
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21.
Hurler’s syndrome and other Mucopolysaccharidoses.
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22.
Chondro-ectodermal dysplasia.
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23.
Pterygium colli.
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24.
Laurence-Moon-Bardet-Biedl syndrome.
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References
Pseudoxanthoma elasticum
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Solanes, M. P.: Distrofia mesodermica hipoplastica y distrofia mesodermica hiper-plastica. Alteraciones oculares. Gac. méd. Méx. 82, 57 (1952).
Stadlin, W., et D. Klein: Ectopie congénitale du cristallin avec sphérophaquie et brachymorphie accompagnée du parésies du regard (Syndrome de Marchesani). Ann. Oculist. (Paris) 181, 692 (1948).
Weill, G.: Ectopie des cristallins et malformations générales. Ann. Oculist. (Paris) 169, 21 (1932).
Zabriskie, Z., and M. Reisman: Marchesani syndrome. J. Pediat. 52, 158 (1958).
Ehlers-Danlos syndrome
Bruno, M. S., and P. Narasimhan: The Ehlers-Danlos syndrome: a report of four cases in two generations of a negro family. New Engl. J. Med. 264, 274 (1961).
Cottini, G. B.: Association des syndromes de Groenblad-Strandberg et d’Ehlers-Danlos dans le même sujet. Acta derm.-venereol. (Stockh.) 29, 544 (1949).
Danlos: Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (Xanthome juvénile pseudo-diabetique de M. Hallopeau et Macé de Lépinay). Bull. Soc. franç. Derm. Syph. 19, 70 (1908).
Dorsch, H. H.: Über das Ehlers-Danlos-Syndrom. (Veröffentlichung eines Falles bei einem Zwillingskind). Kinderärztl. Prax. 21, 49 (1953).
Ehlers, E.: Cutis laxa, Neigung zu Hämorrhagien in der Haut, Lockerung mehrerer Artikulationem. Derm. Z. 8, 173 (1901).
Jansen, L. H.: Le mode de transmission de la maladie d’Ehlers-Danlos. J. Génét. hum. 4, 204 (1955).
Johnson, S. A. M., and H. F. Falls: Ehlers-Danlos syndrome; a clinical and genetic study. Arch. Derm. Syph. (Chic.) 60, 82 (1949).
Kopp: Demonstrationen zweier Fälle von Cutis laxa (Vater und Sohn). Mtinch. med. Wschr. 35, 259 (1888).
Leigheb, V.: Sindrome di Ehlers-Danlos. G. ital. Derm. Sif. 83, 528 (1942).
Margarot, J., P. Deveze et Coll de Carrera: Hyperlaxité cutanée et articulaire (syndrome de Danlos) existant chez trois membres d’une même famille. Bull. Soc. franç. Derm. Syph. 40, 277 (1933).
McKusick, V. A.: Heritable disorders of connective tissue, 2nd edit. St. Louis: C. V. Mosby Co. 1960.
Meekeren, J. A. van: De dilatabilitate extra-ordinaria cutis, chapt. 32. Observationes Medico-Chirurgicae. Amsterdam 1682. (Translation and reproduction of illustration in McKusick 1960.).
Mories, A.: Ehlers-Danlos syndrome with a report of a fatal case. Scot. med. J. 5, 269 (1960).
Newton, T. H., and M. E. Carpenter: Ehlers-Danlos syndrome with acro-osteolysis. Brit. J. Radiol. 32, 739 (1959).
Nicod, M.: Syndrome Ehlers-Danlos, ses manifestations chez plusieurs membres d’une même famille. Thèse Lausanne 1948.
Pautrier: Note histologique sur un cas de cutis elastica, avec pseudotumeurs aux genoux et aux coudes, présente par M. Danlos. Bull. Soc. franç. Derm. Syph. 19, 72 (1908).
Pelbois, F., et Rollier: Association d’un syndrome d’Ehlers-Danlos et d’un syndrome de Groenblad-Strandberg. Bull. Soc. franç. Derm. Syph. 59, 141 (1952).
Rhonchese, F.: Dermatorrhexis with dermatochalasis and arthrochalasis. (The so-called Ehlers-Danlos syndrome.) Amer. J. Dis. Childh. 51, 1403 (1936).
Schiemann: Cutis laxa mit erhöhter Verletzbarkeit der Haut. Arch. Derm. Syph. (Berl.) 181, 507 (1940).
Sestak, Z.: Ehlers-Danlos syndrome and Cutis laxa. An account of families in the Oxford area. Ann. hum. Genet. 25, 313 (1962).
Thomas, C., N. Neimann, J. Cordier et B. Algan: Les manifestations oculaires de la maladie d’Ehlers-Danlos. Bull. Soc. Ophtal. Fr. 211 (1953).
Weber, F. P., and J. K. Aitken: Subcutaneous movable spherules in the Ehlers-Danlos syndrome. Proc. roy. Soc. Med. 31, 553 (1938).
Cutis laxa
Anderson, N. P.: Dermatolysis (Two cases). Arch. Derm. Syph. (Chic.) 31, 267 (1935).
Cashman, M. E.: Cutis laxa. Proc. roy. Soc. Med. 50, 719 (1957).
Christiaens, L., A. Marchand-Aphant et A. Fovet: Emphysème congénital et cutis laxa. Presse méd. 62, 1799, (1954).
Fittke, H.: Über eine ungewöhnliche Form multipler Erbartung (Chalodermie und Dysostose). Z. Kinderheilk. 63, 510 (1942).
Graf: örtliche erbliche Erschlaffung der Haut. Wschr. ges. Heilk. (Berl.) 225 (1836).
Kétly, K. von: Ein Fall von eigenartiger Hautveränderung „Chalodermie“.Arch. Derm. Syph. (Berl.) 56, 107 (1901).
Lewis, E.: Cutis laxa. Proc. roy. Soc. Med. 41, 864 (1948).
Robinson, H. M., and F. A. Ellis: Cutis laxa. Arch. Derm. 77, 656 (1958).
Ronchese, F.: Dermatomegaly. Arch. Derm. 77, 666 (1958).
Rosenthal, J. W., and H. W. Kloepfer: An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome. Arch. Ophthal. 68, 722 (1962).
Schreiber, M. M., and J. C. Tilley: Cutis laxa. Arch. Derm. 84, 266 (1961).
Sestak, Z.: Ehlers-Danlos syndrome and cutis laxa: an account of families in the Oxford area. Ann. hum. Genet. 25, 313 (1962).
Siegmund: Über das sog. Oedema lymphangiectaticum. Zbl. allg. Path. path. Anat. 70, 243 (1938).
Souques, A., et J.-B. Charcot: Géromor-phisme cutané. Nouv. Iconogr. Salpêt. 4, 169 (1891).
Theopold, W., u. R. Wildhack: Dermatochalasis im Rahmen multipler Abartungen. Mschr. Kinderheilk. 99, 213 (1951).
Wiskemann: Gerodermie, Arch. klin. exp. Derm. 213, 870 (1961).
Striae distensae
Lippert, H.: Kritischer Beitrag zu Levens Arbeit: Naevus linearis atrophicus et depig-mentosus. Arch. Derm. Syph. (Berl.) 144, 169 (1923).
Shepherd, F. J.: A case of atrophia maculosa et striata following typhoid fever. J. cutan. Dis. 8, 436 (1890); 9, 59 (1891).
Sisson, W. R.: Colored striae in adolescent children. J. Pediat. 45, 520 (1954).
Dupuytren’s contracture and polyfibromatosis
Allen, R. A., L. B. Woolner, and R. K. Ghormley: Soft tissue tumours of the sole, with special reference to plantar fibromatosis. J. Bone Jt Surg. A 37, 15 (1955).
Bloom, D.: Heredity of Keloids. N.Y. St. J. Med. 56, 511 (1956).
Chesney, J.: Peyronie’s disease. Brit. med. J. 1964 I, 1182.
Davidson, T. K.: Finger callosities. Lancet 1963 II, 525 and personal communications.
Deckner, K.: Die Dupuytrensche Kontraktur. Z. menschl. Vererb.-u. Konstit.-Lehre 22, 734 (1939).
Dupuytren, G.: Leçons orales de clinique chirurgicale faites à l’Hotel-Dieu de Paris. Paris: Baillière 1832.
Dupuytren, G.: Permanent retraction of the fingers produced by an affection of the palmar fascia. Lancet 1834 II, 222.
Early, P. F.: Population studies in Dupuytren’s contracture. J. Bone Jt Surg. B 44, 602 (1962).
Garrod, A. E.: On an unusual form of nodule upon the joints of the fingers. St. Bart. Hosp. Rep. 29, 157 (1893).
Goyrand, G.: Nouvelles recherches sur la rétraction permanente des doigts. Mem. Acad. roy. Méd. (Paris) 3, 489 (1833).
Heite, H. J., u. H. H. Siebrecht: Beitrag zur Pathogenese der Induratio penis plastica. Derm. Wschr. 121, 1 (1950); 122, 890 (1950).
Hodgson-Jones, I. S.: Plantar fibromatosis. Demonstration, Roy. Soc. Med. 21. November 1963.
Hueston, J. T.: Dupuytren’s contracture. London: Livingstone 1963.
Luck, J. V.: Dupuytren’s contracture. J. Bone Jt Surg. A, 41, 635 (1959).
Lund, M.: Dupuytren’s contracture and epilepsy. Acta psychiat. (Kbh.) 16, 465 (1941).
McNeill Love, R. J.: Peyronie’s disease. Brit. med. J. 1964 I, 1046.
Mletzko, K.: Fingerknöchelpolster (Knuckle pads) mit besonderer Berücksichtigung des familiären Vorkommens. Derm. Wschr. 133, 242 (1956).
Murley, R. S.: Peyronie’s disease. Brit. med. J. 1964 I, 908.
Parish, J. G., D. B. Horn, and M. Thompson: Familial streblodactyly with amino-aciduria. Brit. med. J. 1963 II, 1247.
Pfändler, U.: La mécanisme héréditaire de la maladie de Dupuytren. Acta Genet. med. (Roma) 4, 296 (1955).
Plater, F.: Observa-tionum in hominis affectibus... Liber I, p. 147. Basileae: König 1614.
Rolnick, D.: Peyronie’s disease. Ill. med. J. 120, 63 (1961).
Schröder, C. H.: Der Erbgang der Dupuytrenschen Kontraktur. Zbl. Chir. 61, 1056 (1934).
Skoog, T.: Dupuytren’s contracture. Acta chir. scand., Suppl. 139 (1948).
Touraine, A., et H. Ruel: La polyfibromatose héréditaire. Ann. Derm. Syph. (Paris) 5, 1 (1945).
Osteopoikilosis and Dermatofibrosis lenticularis
Aigner, R.: Über Osteopoikilie, verbunden mit Keratoma hereditarum dissipatum palmare et plantare (Brauer). Wien. klin. Wschr. 65, 860 (1953).
Albers-Schönberg, H.: Eine seltene bisher nicht bekannte Strukturanomalie des Skeletes. Fortschr. Röntgenstr. 23, 174 (1915).
Busch, K. F. B.: Familial disseminated osteosclerosis. Acta radiol. (Stockh.) 18, 693 (1937).
Buschke, A., u. H. Ollendorff: Ein Fall von Dermatofibrosis lenticularis disse-minata und Osteopathia condensans disseminata. Derm. Wschr. 86, 257 (1928).
Jonasch, E.: Zwölf Fälle von Osteopoikilie. Fortschr. Röntgenstr. 82, 344 (1955).
Landberg, T., and H. O. Akesson: Å study of osteopoikilosis. Acta Genet. med. (Roma) 12, 256 (1963).
Ledoux-Lebard, R., Chabaneix et Dessane: L’ostéopoecilie. Forme nouvelle d’ostéite condensante généralisée sans symptômes cliniques. J. Radiol. Électrol. 2, 133 (1916).
Lindbom, Å.: Zwei neue Fälle mit „Streifenförmigeer osteopoikilie“ (Voorhoeve). Acta radiol. (Stockh.) 23, 296 (1942).
Luzsa, G.: Osteopoikilia familiaris. Orv. Hetil. 103, 1267 (1962).
Smith, A. D., and M. Waisman: Connective tissue naevi. Familial occurrence and association with osteopoikilosis. Arch. Derm. 81, 249 (1960).
Stieda, A.: Über umschriebene Knochenverdichtungen im Bereich der Substantia im Röntgenbilde. Bruns’ Beitr. klin. Chir. 45, 700 (1905).
Voorhoeve, N.: L’image radiologique non encore déscrite d’une anomalie du squellette. Acta radiol. (Stockh.) 3, 407 (1924).
Wachtel, H.: Über einen Fall von Osteopathia condensans disseminata. Fortschr. Röntgenstr. 27, 624 (1921).
Windholz, F.: Über familiäre Osteopoikilie und Dermato-fibrosis lenticularis disseminata. Fortschr. Röntgenstr. 45, 566 (1932).
Melorheostosis
Gillespie, J. B., and J. A. Siegling: Melorheostosis of Leri. Amer. J. Dis. Child. 55, 1273 (1938).
Green, A. E., W. H. Ellswood, and J.R. Collins: Melorheostosis and Osteopoiliosis. Amer. J. Roentgenol. 87, 1098 (1962).
Leri, A., et Joanny: Une affection non décrite des os: hyperostose “en coulée” sur toute la longueur d’un membre ou “mélorhéostose”. Bull. Soc. méd. Hôp. Paris 46, 1141 (1922).
Morris, J. M., R. L. Samilson, and C. L. Corley: Melorheostosis. J. Bone Jt Surg. A 45, 1191 (1963).
Thompson, N. M., C. E. L. Allen, G. S. Andrews, and F. N. Gillwald: Scleroderma and Melorheostosis. J. Bone Jt Surg. B 33, 430 (1951).
Whitaker, P. H.: Radiological manifestations in tuberose sclerosis. Brit. J. Radiol. 32, 152 (1959).
Pleonosteosis
Coussade, G., et J. Peynet: Un cas de pléonostéose familiale. Bull. Soc. méd. Hôp. Paris 48, 210 (1924).
Léri, A.: Une maladie congénitale et héréditaire de l’ossification: la pléonostéose familiale, Bail. Soc. méd. Hôp. Paris 45, 1228 (1921).
Dystrophie osseuse généralisée congenitale et héréditaire: la pléonostéose familiale. Presse méd. 30, 13 (1922).
Dystrophie osseuse généralisée congenitale et héréditaire: Sur la pléonostéose familiale. Bull. Soc. méd. Hôp. Paris 48, 216 (1924).
McKusick, V. A.: Medical genetics, 1958–1960, fig. 64. St. Louis: C. V. Mosby Co. 1961.
Rouillard, J., et P. Barreau: Un nouveau cas de pléonostéose héréditaire avec atteintes graves des grosses articulations. Bull. Soc. méd. Hôp. Paris 51, 794 (1927).
Rtjkavina, J. G., H. F. Falls, J. F. Holt, and W. D. Block: Leri’s Pleonosteosis. J. Bone Jt Surg. A 41, 397 (1959).
Watson-Jones, R.: Léri’s pleonosteosis, carpal tunnel compression of the median nerves and Mortons metatarsalgia. J. Bone Jt Surg. B 31, 560 (1949).
Pachydermoperiostosis
Adrian, C.: Sur la morphogenese de la pachydermie occipitale vorticilée. Bull. Soc. franç. Derm. Syph. 39, 1485 (1932).
Arnold, J.: Acromegalie, Pachyacrie oder Ostitis. Ein anatomischer Bericht über den Fall Hagner. Beitr. path. Anat. 10, 1 (1891).
Bayer, B., u. K. Merkel: Über das Krankheitsbild der Hyperostosis generalisata, hereditaria, idiopathica mit Pachydermien. Med. Mschr. 1, 23 (1953).
Binder, E., u. G. Bonse: Über familiäre Haut-und Knochenverriesung. Arch. Derm. Syph. (Berl.) 196, 123 (1953).
Bogaert, L. van: Ostéo-arthropathie hypertrophiante pneumique chez deux frères. Spondylite déformante chez les deux soeurs de la même famille. J. Neurol. Psychiat. 28, 502 (1928).
Burreau, Y., H. Barrière et M. Thomas: Hippocratisme digital congénital avec hyperkératose palmo-plantaire et troubles osseux. Ann. Derm. Syph. (Paris) 86, 611 (1959).
Collier, M.: Dégénérescence maculaire présénile, albinisme partiel et pachydermoperiostosis. Ann. Oculist. (Paris) 195, 721 (1962).
Currarino, G., R. C. Tierney, R. G. Giesel, and C. Weihl: Familial idiopathic osteoarthropathy. Amer. J. Roentgenol. 85 633 (1961).
Decloux et Lippmann: Ostéo-arthropathie hypertrophiante. Bull. Soc. méd. Hôp. Paris 19, 80 (1902).
Erb, W.: Über Akromegalie (krankhaften Riesenwuchs). Dtsch. Arch. klin. Med. 42, 295 (1888).
Findlay, G. H., and W. J. Oosthuizen: Pachydermoperiostosis (syndrome of Touraine, Solente, Gole). S. Afr. med. J. 25, 747 (1951).
Fraentzel, O.: Über Akromegalie. Dtsch. med. Wschr. 14, 653 (1888).
Franceschetti, A., R. Gilbert, D. Klein et P. Wettstein: Un nouveau cas familial de pachydermie plicaturée (cutis gyrata) avec pachypériostose des extrémités, vérifié anatomiquement. Schweiz. med. Wschr. 80, 1301 (1950).
Friedreich, N.: Hyperostose des gesamten Skeletes. Virchows Arch. path. Anat. 43, 83 (1868).
Huriez, C, P. François et P. Agache: Pachydermoperiostose; syndrome de Touraine, Solente et Golé. Ann. Derm. Syph. (Paris) 89, 372 (1962).
Langston, H. H.: Bone dystrophy of unknown aetiology. Proc. roy. Soc. Med. 43, 299 (1950).
Leva, J.: Über familiäre Akromegalie. Med. Klin. 112, 1266 (1915).
Mankowski, B. N., J. I. Heinisman u. L. I. Czerny: Osteopathia dysplastica familiaris. Zur Genese des Syndroms Marie-Bamberger. Fortschr. Roentgenstr. 50, 542 (1934).
Marie, P.: De l’osteo-arthropathie hypertrophiante pneumique. Rev. Méd. (Paris) 10, 1 (1890).
Müller, W.: Über die familiäre akromegalie-ähnliehe Skeleterkrankung. Bruns’ Beitr. klin. Chir. 150, 616 (1930).
Oehme, C.: Familiäre akromegalie-ähnliche Erkrankung, besonders des Skeletes. Dtsch. med. Wschr. 45, 207 (1919).
Rosenthal, J. W., and H. W. Kloepfer: An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome. Arch. Ophthal. 68, 722 (1962).
Semple, T., and R. A. McKluskie: Generalized hypertrophic osteoarthropathy in association with bronchial carcinoma. Brit. med. J. 1955 I, 754.
Sèze, S. de, et S. H. Jurmand: Pachydermopériostose. Doigts hippocratiques chez le père. Reflexions sur le rôle du facteur constitutionnel génétique et héréditaire. Bull. Soc. méd. Hôp. Paris 66, 860 (1950).
Shawarby, K., and M. S. Ibrahim: Pachydermoperiostitis. A review of literature and report of four cases. Brit. med. J. 1962 I, 763.
Shen, R., and S. Yamanouchi: Über Cutis gyrata und Cutis gyrata latens. Hihu-to-Hirunyo 1, 297 (1933). [Abstracts in Derm. Wschr. 98, 254 (1934) and Zbl. Haut-u. Geschl.-Kr. 47, 693 (1934)].
Sicard, J.-A., et Hageenau: Acromégalisme partiel familial (Type digitopalpébral). Bull. Soc. méd. Hôp. Paris 37, 1238 (1940).
Simons, A.: Familiäre Trommelschlegelbildung und Knochenhypertrophie. Dtsch. Z. Nervenheilk. 59, 301 (1918).
Talbott, J. H., and W. R. Montgomery: Familial clubbing of fingers and toes. Arch. intern. Med. 92, 697 (1953).
Törnblom, N., E. Malers u. G. Wallenius: Osteodermato-pathia hypertrophicans. Acta med. scand. 164, 325 (1959).
Touraine, A., G. Solente et L. Golé: Un syndrome ostéodermopathique: La pachydermie plicaturée avec pachypériostose de la face et des extrémités. Presse méd. 43, 1820 (1935).
Vague, J.: La pachydermopériostose. Nouvelle etude critique. Ann. Méd. (Paris) 51, 152 (1950).
Vogl, A., and S. Goldfischer: Pachydermoperiostosis. Primary or idio-pathic osteoarthropathy. Amer. J. Med. 33, 166 (1962).
Cutis verticis gyrata
Akesson, H. O.: Cutis verticis gyrata and mental deficiency in Sweden. Acta med. scand. 175, 115 (1964).
Besta, C: Due idioti microcefali. Contributo allô studio delia microcefalia pura. Riv. sper. Freniat. 30, 572 (1904).
Danielewskaja, E. D.: Cutis verticis gyrata. Zbl. Haut-u. Geschl.-Kr. 16, 54 (1925).
Jadassohn, J.: Eine eigentümliche Furchung, Erweiterung und Verdickung der Haut am Hinterkopf. Verh. dtsch. derm. Ges. 9, 451 (1906).
Marroquin, J.: El cuero cabelludo cerebroide, “chajrahuma”, en el andino. Rev. Neuro-psiquiat. 4, 121 (1941).
Miescher, G.: Zwei Fälle von kongenitaler familärer Akanthosis nigricans, kombiniert mit Diabetes mellitus. Derm. Z. 32, 276 (1921).
Polan, S., and T. Butterworth: Cutis verticis gyrata. A review with report of seven new cases. Amer. J. ment. Defic. 57 613 (1953).
Rosenthal, J. W., and H. W. Kloepfer: An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome. Arch. Ophthal. 68, 722 (1962).
Sprinz, O.: Cutis verticis gyrata (Jadassohn, Unna). Arch. Derm. Syph. (Berl.) 132, 281 (1921).
Stratton, E. K.: Cutis verticis gyrata. Arch. Derm. Syph. (Chic.) 27, 392 (1933).
Unna, P. G.: Cutis verticis gyrata. Mschr. prakt. Derm. 45, 227 (1907).
Veress, von: Über die Cutis verticis gyrata. Korresp.-Bl. Schweiz. Arzt. 48, 896 (1918).
Fibromatosis gingivae
Baden, E., H. E. Pierce, and W.F. Jackson: Multiple neurofibromatosis with oral lesions. Review of the literature and report of a case. Oral Surg. 8, 263 (1955).
Cernea, Garlopeau, Marie et Sand: Les hyperplasies gingivales familiales. Rev. Stomat. (Paris) 56, 620 (1955).
Danforth, C. H.: Studies on hair with special reference to hypertrichosis. Arch. Derm. Syph. (Chic.) 12, 380 (1925).
Garn, S. M., and C. E. Hatch: Hereditary general gingival hyperplasia. J. Hered. 41, 41 (1950).
Gorlin, R. J., A. P. Chaudhry, and E. E. Kelln: Oral manifestations of the Fitzgerald-Gardner, Pringle-Bournville, Robin, Adrenogenital and Hurler-Pfaundler syndromes. Oral Surg. 13, 1233 (1960).
Gross, S.D.: Case of hypertrophy of the gums. Louisville Rev. 1, 232 (1856).
Mirolli, A.: La elefantiasis familiäre delle gengive. Arch. ital. Chir. 29, 401 (1931).
Nasse: Mißbildungen am Zahnfleisch und Alveolarfortsätze des Ober-und Unterkiefers. Dtsch. med. Wschr. 21, 114 V (1895).
Raynal, T.: Deux cas d’hypertrophie gingivale, généralisée, congénitale et familiale. Marseilleméd. 46, 577 (1909).
Ruggles, S. D.: Primary hypertrophy of the gums. J. Amer, med. Ass. 84, 20 (1925).
Rushton, M. A.: Hereditary or idiopathic hyperplasia of the gums. Dent. Practit. dent. Rec. 7, 136 (1957).
Rutherford, M. E.: Three generations of inherited dental defect. Brit. med. J. 1931 II, 9.
Weiss: Discussion of paper by C. Heath. Trans, odont. Soc. G.B. 11, 26 (1879).
Weski, H.: Elephantiasis gingivae hereditaria beobachtet an fünf Generationen in einer Familie. Dtsch. Mschr. Zahnheilk. 38, 577 (1920).
Zackin, S. J., and D. Weisberger: Hereditary gingival fibromatosis. Report of a family. Oral Surg. 14, 828 (1961).
Ziskin, D. E., and E. V. Zegarelli: Idiopathic fibromatosis of the gingivae. Ann. Dent. (Baltimore) 2, 50 (1943).
Werner’s syndrome
Boatwright, H., C. E. Wheeler, and E. P. Cawley: Werner’s syndrome. Arch. intern. Med. 90, 243 (1952).
Brink, A. J., and G. H. Findlay: Werner’s syndrome. S. Afr. med. J. 24, 318 (1950).
Cohen, M., and W. B. Shelley: Ankle ulcer sign of Werner’s syndrome. Arch. Derm. 87, 86 (1963).
Ellison, D. J., and D. W. Pugh: Werner’s syndrome. Brit. med. J. 1955 II, 237.
Field, J. B., and S. D. Loube: Observations concerning the diabetes mellitus associated with Werner’s syndrome. Metabolism 9, 118 (1960).
Goodman, R. M.: In: V. A. McKusick, Medical genetics 1962, fig. 39. J. chron. Dis. 16, 457 (1963).
Hernandez Guerra, F., y J. Jaime Hernandez: Presentacion en très hermanos de un sindrome de Werner. Arch. Soc. oftal. hisp.-amer. 18, 285 (1958).
Irwin, G. W., and P. B. Ward: Werner’s syndrome. Amer. J. Med. 15, 266 (1953).
Jablonska, S., u. P. Segal: Das Wernersche Syndrom und dessen atypische Formen. Minerva Derm. 34, 259 (1959).
Jacobson, H. G., H. Rifkin, and D. Zucker-Franklin: Werner’s syndrome: a clinical-roentgen entity. Radiology 74, 373 (1960).
Kansky, A., and J. Franzot: Werner’s syndrome. Acta derm.-venereol. (Stockh.) 43, 441 (1963).
Knoth, W., R. Baethke u. L. Hoffmann: Über das Werner-Syndrom. Hautarzt 14, 145 (1963).
Krebs, E., E. Hartmann et F. Thiebaut: Un cas familial de syndrome de sclérodermie avec cataracte endocriens et neuro-végétatifs associés. Rev. neurol. 37(1), 606 and 37 (11), 121 (1930).
Lapière, S.: Syndrome de Werner, deux cas familiaux. Arch. belges Derm. 14, 480 (1958).
Louw, A.: Rothmund-Werner’s disease. Acta med. scand. 121, 333 (1945).
Maeder, G.: Le syndrome de Rothmund et le syndrome de Werner (Etude clinique et diagnostique). Ann. Oculist. (Paris) 182, 809 (1949).
Matras, A., u. J. Kohler: Ein Beitrag zum Werner-Syndrom. Wien. med. Wschr. 106, 437 (1956).
Merz, E. H., K. Tausk, and E. Dukes: Meso-ectodermal dysplasia. Amer. J. Ophthal. 55, 488 (1963).
Mogensen, E. F.: Konveksitetsmeningeom hos en patient med Werners syndrom. Ugeskr. Laeg. 115, 18 (1953).
Monier-Vinard, D.P., et E.M. Barbot: Sclérodermie et cataracte. Bull. Soc. méd. Höp. Paris 52, 708 (1928).
Muller, L., and B. Andersson: Werner’s syndrome. A survey based on two cases. Acta med. scand., Suppl. 283 (1953).
Oppenheimer, B. S., and V. H. Kugel: Werner’s syndrome. A heredofamilial disorder with scleroderma, bilateral juvenile cataract, precocious graying of the hair and endocrine stigmatization. Trans. Ass. Amer. Phycns 49, 358 (1934).
Werner’s syndrome: report of the first necropsy and of findings in a new case. Amer. J. med. Sci. 202, 629 (1941).
Perloff, J. K., and E. T. Phelps: A review of Werner’s syndrome, with a report of a second autopsied case. Ann. intern. Med. 48, 1205 (1958).
Petrohelos, M. A.: Werner’s syndrome. Amer. J. Ophthal. 56, 941 (1963).
Rud, E.: Werner’s syndrome in 3 siblings. Acta ophthab (Kbh). 34, 255 (1956).
Schott, J., and S. Dann: Werner’s syndrome. New Engl. J. Med. 240, 641 (1949).
Schultheisz, E., u. F. Schultheisz: Zwei Fälle von Werner-Syndrom. Wien. klin. Wschr. 68, 855 (1956).
Sheets, R. F.: Werner’s syndrome (progeria of the adult). Amer. Practit. 1, 390 (1950).
Sourreil, L., et P. Sarrat: Syndrome de Werner. Bull. Soc. franç. Derm. Syph. 63, 207 (1956).
Thannhauser, S. J.: Werner’s syndrome (Progeria of the adult) and Rothmund’s syndrome: two types of closely related heredofamilial atrophic dermatosis with juvenile cataracts and endocrine features; a critical study with five new cases. Ann. intern. Med. 23, 559 (1946).
Valero, A., and B. Gellei: Retinitis pigmentosa, hypertension and uraemia in Werner’s syndrome. Report of a case with necropsy findings. Brit. med. J. 1960 II, 351.
Vossius, A.: Zwei Fälle von Katarakt in Verbindung mit Sklerodermie. Z. Augenheilk. 43, 640 (1920).
Werner, O.: Über Katarakt in Verbindung mit Sklerodermie. Inaug.-Diss. Kiel 1904 (zit. Vossius).
Wettler, H.: Über einen Fall von Wernerschem Syndrom. Ophthal-mologica (Basel) 121, 172 (1952).
Williams, D. J.: Werner’s syndrome. Proc. roy. Soc. Med. 42, 572 (1949).
Rothmund-Thomson syndrome
Allansmith, M., and E. Senz: Chondrodystrophia congenita punctata (Conradi’s disease). Amer. J. Dis. Child. 100, 109 (1960).
Azambuja, A.: Sindromes de Rothmund-Petges-Clejat-Jacobi. Proc. IV. Congr. panamer. Oftal. 2, 860 (1952).
Berlin, C.: Congenital generalized melanoleucoderma associated with hypodontia, hypo-trichosis, stunted growth and mental retardation occurring in two brothers and two sisters. Dermatologica (Basel) 123, 227 (1961).
Borda, J. M.: Porfiria asociada a poiquilodermia congenita de Thomson. Arch. argent. Derm. 11, 177 (1961).
Brain, R. T., and W. Frain-Bell: Zit. by Rook and co-workers, case 56.
Cole, H. N., H. K. Giffen, J. T. Simmons, and G. M. Stroud: Congenital cataracts in sisters with congenital ectodermal dysplasia. J. Amer. med. Ass. 129, 723 (1945).
Cunningham, A.A.: Poikiloderma congénitale (Thomson’s disease). Proc. roy. Soc. Med. 57, 841 (1964).
Degos, R., et J. S. Tschao: Syndrome de Rothmund (dermite atrophique réticulée a une cataracte bilaterale precose). Bull. Soc. franç. Derm. Syph. 56, 266 (1949).
Feldreich, H.: Poikiloderma congénitale in twins. Acta derm-venereol. (Stockh.) 35, 96 (1955).
Goltz, R. W., W. C. Peterson, R. J. Gorlin, and H. G. Ravits: Focal dermal hypo-plasia. Arch. Derm. 86, 708 (1962).
Greither, A.: Über eine mit Keratosen und Pigmentstörungen einhergehende erbliche Dysplasie der Haut. Hautarzt 9, 364 (1958).
Greither, A., and D. Dyckerhoff: Über das Rothmund-und das Werner-Syndrom. Arch. klin. exp. Derm. 201, 411 (1955).
Habermann, P., and M. Fleck: Über das Rothmund-Syndrom. Z. Kinderheilk. 77, 306 (1955).
Hallman, N., and R. Pätiälä: Congenital poikiloderma atrophicans vasculare in a mother and her son. Acta derm.-venereol. (Stockh.) 31, 401 (1951).
Knoth, W., R. Baethke u. L. Hoffmann: Über das Werner-Syndrom. Ein Beitrag zur Kenntnis der Schilddrüsenfunktion nach Radiojodstudium, der Symptomatologie der Schrifttumsfälle und der histologischen Differentialdiagnose zum Rothmund-Syndrom. Hautarzt 14, 145 u. 193 (1963).
Lepard, C. W.: Poikiloderma congénitale. Trans. Amer, ophthal. Soc. 54, 301 (1957).
Maeder, G.: Le syndrome de Rothmund et le syndrome de Werner. Ann. Oculist. (Paris) 182, 809 (1949).
Porter, F. S., and B. A. Lowe: Congenital erythropoietic protoporphyria. Blood 22, 521 (1963).
Rook, A., R. Davis, and D. Stevanovic: Poikiloderma congénitale: Rothmund-Thomson syndrome. Acta derm.-venereol. (Stockh.) 39, 392 (1959).
Roschlau, G.: Rothmund-Syndrom, kombiniert mit Osteogenesis imperfecta tarda und Sarkom des Oberschenkels. Z. Kinderheilk. 86, 289 (1962).
Rothmund, A.: Über Katarakt in Verbindung mit einer eigentümlichen Hautdegeneration. Albrecht, v. Graefes Arch. Ophthal. 14, 158 (1868).
Seefelder, R.: Über familiäres Auftreten von Katarakt und Poikilodermie. Z. Augen-heilk. 86, 81 (1935).
Sexton, G. B.: Thomson’s syndrome (Poikiloderma congénitale). Canad. med. Ass. J. 70, 662 (1954).
Sexton, G. B.: Personal communication. 1963.
Siemens, H. W.: Die Vererbung in der Ätiologie der Hautkrankheiten. In: Jadassohn, Handbuch der Haut-u. Geschl.-Krankh., Bd. III, S. 55 u. 117. Berlin-Springer 1929.
Taylor, W. B.: Rothmund’s syndrome Thomson’s syndrome. Arch. Derm. 75, 236 (1957).
Thomson, M. S.: A hitherto undescribed familial disease. Brit. J. Derm. 35, 455 (1923).
Vankos, J., u. E. Kapu: Das Thomson-Syndrom. Derm. Wschr. 143, 574 (1961).
Wodniansky, P.: Über die Formen der kongenitalen Poikilodermie. Arch. klin. exp. Derm. 205, 331 (1957).
Woerdemann, M. J.: Dystrophia bullosa hereditaria, typus macu-latus. Ned. T. Geneesk 102, 111 (1958).
Bloom’s syndrome
Bloom, D.: Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Probably a syndrome entity. Amer. J. Dis. Child. 88, 754 (1954).
Bloom, D.: In discussion of Fitzpatrick 1963.
In discussion of H. O. Curth: Bloom’s syndrome. Arch. Derm. 90, 349 (1964).
Brunsting, L. A.: Congenital telangiectasia of the face; ichthyosiform erythroderma; mild pituitary dwarfism. Arch. Derm. 75, 771 (1957).
Fitzpatrick, T. B.: Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Arch. Derm. 87, 499 (1963).
Hillman, D. A., J. D. Crawford, and N. B. Talbot: Observations on the etiology of dwarfism in congenital telangiectatic erythema. Pediatrics 20, 268 (1957).
Katzenellenbogen, I., and Z. Laron: A contribution to Bloom’s syndrome. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Arch. Derm. 82, 609 (1960).
Körting, G. W., u. W. Adam: Eine seltene Poikilodermieform: Lupus ery-thematodes-artige Hautveränderungen bei Minderwuchs. Arch. klin. exp. Derm. 207, 508 (1958).
Lewis, B. L.: In discussion of Brunsting 1957.
Moynahan, E. J.: A new progeroid syndrome characterized by dwarfism, kyphoscoliosis, universal livedo reticularis and generalized telangiectasia, early marginal alopecia and chronic nasal infection. Proc. roy. Soc. Med. 55, 877 (1962).
Seckel, H. P. G.: Bird-headed Dwarfs. Studies in developmental anthropology including human proportions. Basel: S. Karger 1960.
Torre, D. P.: Primordial dwarfism; discoid lupus erythematosus. Arch. Derm. Syph. (Chic.) 69, 511 (1954).
Verschuer, O. F., u. L. Conradi: Eine Sippe mit recessiv erblichem primordialem Zwergwuchs. Z. menschl. Vererb.-u. Konstit.-Lehre 22, 261 (1938).
Warkany, J., B. B. Monroe, and B. S. Sutherland: Intrauterine growth retardation. Amer. J. Dis. Child. 102, 249 (1961).
Wolf, J.: Congenital teleangiectatic erythema resembling lupus erythematosus in dwarfs: Bloom’s syndrome. Arch. Derm. 87, 764 (1963).
Dyskeratosis congenita
Bazex, A., et A. DuprÉ: Dyskeratose congénitale (type Zinsser-Cole-Engman) associée a une myelopathie constitutionale (purpura thrombopenique et neutropenie). Ann. Derm. Syph. (Paris) 84, 497 (1956).
Cole, H. N., J. E. Rauschkolb, and J. Toomey: Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Arch. Derm. Syph. (Chic.) 21, 71 (1930); 71, 451 (1955).
Costello, M. J., and C. M. Buncke: Dyskeratosis congenita. Arch. Derm. 73, 123 (1956).
Cowdell, R. H., P. J. R. Phizackerley, and D. A. Pyke: Constitutional anaemia (Fanconi’s syndrome) and leukaemia in two brothers. Blood 10, 788 (1955).
Engman jr., M. F.: Congenital atrophy of the skin with reticular pigmentation: report of 2 cases. J. Amer. med. Ass. 105, 1252 (1935).
Engmansen, M. F.: A unique case of reticular pigmentation of the skin with atrophy. Arch. Derm. Syph. (Chic.) 13, 685 (1926).
Franceschetti, A., et W. Jadassohn: A propos de’ Tincontinentia pigmenti” delimitation de deux syndromes différents figurant sous le même terme. Dermatologica (Basel) 108, 1 (1954).
Garb, J.: Dyskeratosis congenita with pigmentation, dystrophia unguium and leuko-plakia oris. A follow up report of two brothers. Arch. Derm. 77, 704 (1958).
Garb, J., and G. Rubin: Dyskeratosis congenita with pigmentation, dystrophia unguium and leuko-plakia oris. Arch. Derm. Syph. (Chic.) 50, 191 (1944).
Garriga, S., and W. H. Crosby: The incidence of leukaemia in families of patients with hypoplasia of the marrow. Blood 14, 1008 (1959).
Grekin, J. N., and O. D. Schwartz: Dyskeratosis congenita with pigmentation, dystrophia unguium and leukokeratosis oris. Arch. Derm. 85, 124 (1962).
Jackson, A. D. M., and S. D. Lawler: Pachyonychia congenita: report of 6 cases in one family with a note on linkage data. Ann. Eugen. (Lond.) 16, 142 (1951).
Jansen, L. H.: The so-called “Dyskeratosis congenita“. Dermatologica (Basel) 103, 167 (1951).
Kitamura, K., u. T. Hirako: Über zwei japanische Fälle einer eigenartigen retikulären Pigmentierung. Dermatologica (Basel) 110, 97 (1955).
Koszewski, B. J., and T. F. Hubbard: Congenital anaemia in hereditary ectodermal dysplasis. Arch. Derm. 74, 159 (1956).
Moon-Adams, D., and M. G. H. Slatkin: Familial pigmentation with dystrophy of the nails. Arch. Derm. Syph. (Chic.) 71, 591 (1955).
Sorrow, J. M., and J. Hitch: Dyskeratosis congenita: First report of its occurrence in a female and review of the literature. Arch. Derm. 88, 340 (1963).
Wende, G. W., and H. B. Baukaus: A hitherto undescribed generalized pigmentation of the skin appearing in infancy in a brother and sister. J. cutan. Dis. 37, 685 (1919).
Witkop, C. J., and R. J. Gorlin: Four hereditary mucosal syndromes. Arch. Derm. 84, 762 (1961).
Zinsser, F.: Atrophia cutis reticularis cum pigmentatione, dystrophia unguium et leuko-plakia oris. In: A. L. S. Neisser and E. Jacobi, (Edit.), Ikonographia Dermatologica, tab. XLIII. Berlin u. Wien: Urban & Schwarzenberg 1906-1910.
Cockayne’s syndrome
Beaufils, A. M. P.: Le syndrome de Cockayne. A propos d’une observation clinique. Thèse 895 Paris 1958.
Butterworth, T., and L. P. Strean: Clinical Genodermatology, figs. 28a and 28C. Baltimore: Williams & Wilkins Co. 1962.
Cullen, M., y H. Mora: Sindrome de Cockaigne. Arch. argent. Pediat. 55, 16 (1961).
François, J., et K. de Blond: Dégénérescence tapeto-rétinienne associée a un syndrome hypolipidimique. Acta Genet, med. (Roma) 12, 145 (1963).
Kloepfer, H. W.: Progress report on study of a type of progressive juvenile dementia with oligophrenia and erythema. Proc. X. internat. Congr. Genet. 11, 146. Toronto: University Toronto Press 1958.
Kloepfer, H. W.: Personal communications 1963.
Lamy, M., J. Frézal, J. Polonovski, G. Druez, and J. Rey: Congenital absence of beta-lipoproteins. Pediatrics 31, 277 (1963).
Lieberman, W. J., R. A. Schimek, and C. H. Snyder: Cockayne’s disease. Amer. J. Ophthal. 52, 116 (1961).
MacDonald, W. B., K. D. Fitch, and I. C. Lewis: Cockayne’s syndrome. Pediatrics 25, 997 (1960).
Marie, J., B. Lévèqije, J. C. Hesse et J. Buri: Nanisme avec rétinite pig-mentaire et surdité. Syndrome de Cockayne. Sem. Hôp. Paris 34, 2808 (1958).
Mehregan, A. H.: Dermatitis Solaris related to xeroderma pigmentosa. Report of four cases with ophthalmic and metal disturbances. Arch. Derm. 87, 469 (1963).
Neil, C.A., and M. M. A. Dingwall: A syndrome resembling progeria. Arch. Dis. Childh. 25, 213 (1950).
Paddison, R. M., J. Moosy, V. J. Derbes, and W. Kloepfer: Cockayne’s syndrome. Dermatologia Tropica 2, 195 (1963).
Walsh, F. B.: Clinical Neuro-Ophthalmology, second edit., case 272. Baltimore: Williams & Wilkins Co. 1957.
Wilkins, L.: The diagnosis and treatment of endocrine disorders in childhood and adolescence, second edit., page 179. Springfield (Ill.): Ch. C. Thomas 1957.
Windmiller, J., P. J. Whalley, and C. W. Fink: Cockayne’s syndrome with chromosomal analysis. Amer. J. Dis. Child. 105, 118 (1963).
Progeria
Broc, R., M. Nicolle et A. J. de Beaujen: Progéria. Étude des lesions osseux. Presse méd. 43, 786 (1935).
Cooke, J. V.: The rate of growth in progeria, with a report of two cases. J. Pediat. 42, 26 (1953).
Falls, H. F., and W. J. Schull: Hallerman-Streiff syndrome. Arch. Ophthal. 63, 409 (1960).
Gabr, M., N. Hashem, M. Hashem, A. Fahmi, and M. Safofh: Progeria, a pathologic study. J. Pediat. 57, 70 (1960).
Gilford, H.: On a condition of mixed premature and immature development. Trans, med.-chir. Soc. Edinb. 80, 17 (1897).
Progeria: A form of senilism. Practitioner 73, 188 (1904).
Gorter, E.: Progeria en Progeroid. Mschr. Kindergeneesk. 12, 53 (1942).
Gregerson, E.: Ocular abnormalities in progeria. Acta ophthal. (Kbh.) 34, 347 (1956).
Heuyer, G., L. Denoyelle et A. Bernard: Nanisme avec infantilisme, microcéphalie, malformations osseuse et cutanées du type de nanisme sénile ou progerie chez deux frères. Bull. Soc. Pédiat. Paris 34, 159 (1936).
Hutchinson, J.: Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages. Trans. med.-chir. Soc. Edinb. 69, 473 (1886).
Kölbl, H., H. Zierhut u. E. Zweymüller: Beitrag zur Pathogenese der Progerie an Hand von zwei neuen Fällen. Ost. Z. Kinderheilk. 8, 163 (1952).
Makoüs, N., S. Friedman, W. Yakovac, and E. P. Maris: Cardiovascular manifestations in progeria. Report of clinical and pathologic findings in a patient with severe arterio-sclerotic heart disease and aortic stenosis. Amer. Heart. J. 64, 334 (1962).
Moehlig, R.C.: Progeria with nanism and congenital cataracts in a five year old child. J. Amer. med. Ass. 132, 640 (1946).
Mostafa, A. H., and M. Gabr: Heredity in progeria. With follow up of two affected sisters. Arch. Pediat. 71, 163 (1954).
Moynahan, E. J.: Progeria (Hastings-Gilford) presenting as scleroderma in early infancy. Proc. roy. Soc. Med. 55, 233 (1962).
Paterson, D.: Case of progeria. Proc. roy. Soc. Med. 16, 42 (1922).
Rosenthal, J. M., J. P. Bronstein, F. D. Dallenbach, S. Pruzansky, and A. K. Rosenwald: Progeria, report of a case with cephalometric roentgenograms and abnormally high concentrations of lipoproteins in the serum. Pediatrics 18, 565 (1956).
Schondel, A.: Two cases of progeria complicated by microphthalmos. Acta paediat. (Uppsala) 30, 286 (1942).
Seip, M., and O. Trygstad: Generalized lipodystrophy. Arch. Dis. Childh. 38, 447 (1963).
Talbot, N.B., A.M. Butler, E.L. Pratt, E. A. MacLachlan, and J. Tannheimer: Progeria; clinical, metabolic and pathologic studies on a patient. Amer. J. Dis. Child. 69, 267 (1945).
Thomson, J., and J. O. Forfar: Progeria (Hutchinson-Gilford syndrome). Report of a case and review of the literature. Arch. Dis. Childh. 25, 224 (1950).
Variot, J., et P. Pironneau: Nanisme avec dystrophie osseuse et cutané spéciales. Bull. Soc. Pédiat. Paris 12, 307 (1910).
Variot, J., et P. Pironneau: Le nanisme, type sénile. Bull. Soc. Pédiat. Paris 12, 431 (1910).
Zeligman, I., and T. L. Fleisher: Ichthyosis follicularis. Arch. Derm. 80, 413 (1959).
Acrogeria
Batschvaroff, B., D. Stanischeff u. M. Prikolotina: Ein neuer Fall von Akrogerie Gottron. Derm. Wschr. 143, 59 (1961).
Bazex, A., et A. Dupré: Acrogeria (Type Gottron). Ann. Derm. Syph. (Paris) 82, 604 (1955).
Bommer, W., W. Künzer u. W. Hauser: Krankheitsbild mit Zeichen einer Progerie (Hutchinson-Gilford) und eines Ehlers-Danlos-Syndroms. (Eine ungewöhnliche Mesenchymdysplasie mit starken Anklängen an die Akrogerie Gottron.) Arch. Kinderheilk. 165, 172 (1961).
Calvert, H. T.: Acrogerie (Gottron Type). Brit. J. Derm. 69, 69 (1957).
Gaethe, G.: Elastosis perforans serpiginosa. Arch. Derm. 85, 625 (1962).
Gottron, H.: Familiäre Akrogerie. Arch. Derm. Syph. (Berl.) 181, 571 (1941).
Lamy, M., J. Frézal, C. Nezeloff et Mme. Raverdy: L’acrogeria. Arch. franç. Pédiat. 18, 18 (1961).
Laugier P. C. Gomet et F. Woringer: Acrogeria (Gotron) et kératose folliculaire serpigineuse (Lutz). Bull. Soc. franç. Derm. Syph. 66, 80 (1959).
Laugier, P., et F. Woringer: Réflexions au sujet d’un collagénome perforant verruciforme. Ann. Derm. Syph. (Paris) 90, 29 (1963).
Whyte, H. J., and R. K. Winkelman: Elastosis perforans (Perforating elastosis). J. invest. Derm. 35, 113 (1960).
Woringer, F., et P. Laugier: Maladie de Lutz-Miescher. Ann. Derm. Syph. (Paris) 87, 601 (1960).
Hurler’s syndrome and other Mucopolsaccharidoses
Abul-Haj, S. K., D. G. Martz, W. F. Douglas, and L. J. Geppert: Farber’s disease. Report of a case with observations on its histiogenesis and notes on the nature of the stored material. J. Pediat. 61, 221 (1962).
Andersson, B., and O. Tandberg: Lipochondro-dystrophy (Gargoylism, Hurler’s syndrome) with specific cutaneous deposits. Acta paediat. (Uppsala) 41, 161 (1952).
Basu, B. K., and S. P. Sarkar: Brailsford-Morquio’s disease. Occurrence in two brothers. J. Indian med. Ass. 39, 359 (1962).
Beebe, R. T., and P. F. Formel: Gargoylism; sex-linked transmission in nine males. Trans. Amer. clin. climat. Ass. 66, 199 (1954).
Berenson, G. S., and J. C. Geer: Heart disease in the Hurler and Marfan syndromes. Arch. intern. Med. 111, 58 (1963).
Berkhan, O.: Zwei Fälle von Skaphokephalie. Arch. Anthrop. 6, 8 (1907).
Berry, H. K., and J. Spinanger: A paper spot test useful in study of Hurler’s syndrome. J. Lab. clin. Med. 55, 136 (1960).
Brailsford, J. F.: Chondro-osteodystrophy. Amer. J. Surg. 7, 404 (1929).
Brante, G.: Gargoylism: a mucopolysaccharidosis. Scand. J. clin. Lab. Invest. 4, 43 (1952).
Campbell, T. N., and M. Fried: Urinary mucopolysaccharide excretion in the sex-linked form of the Hurler syndrome. Proc. Soc. exp. Biol. (N. Y.) 108, 529 (1961).
Cocchi, U.: Polytope erbliche enchondrale Dysostosen. Fortschr. Röntgenstr. 72, 409 (1950).
Cole, H. N., R. C. Irving, H. Z. Lund, R. D. Mercer, and R. W. Schneider: Gargoylism with cutaneous manifestations. Arch. Derm. Syph. (Chic.) 66, 371 (1952).
Dyggve, H. V., J. C. Melchior, and J. Clausen: Morquio-Ullrich’s disease. Arch. Dis. Childh. 37, 525 (1962).
Ellis, R. W. B., W. Sheldon, and N. B. Capon: Gargoylism (Chondro-osteodystrophy, Corneal opacities, Hepatosplenomegaly and Mental deficiency). Quart. J. Med. 5, 119 (1936).
Emery, A. E. H.: Personal communication 1963.
Emmanuel, R. W.: Gargoylism with cardiovascular involvement in two brothers. Brit. Heart J. 16, 417 (1954).
Falek, A., R. Schmidt, and G. A. Jervis: Brachmann/de Lange syndrome. Lancet 1965 I, 706.
Färber, S., J. Cohen, and L. L. Uzman: Lipogranulomatosis. A new lipo-glyco-protein storage disease. J. Mt Sinai Hosp. 24, 816 (1957).
François, J., et C. Detrait: Dystrophie dermo-chondro-cornéenne familiale. Ann. paediat. (Basel) 174, 145 (1950).
Garn, S. M., and V. O. Hurme: Dental defects in siblings afflicted with Morquio’s disease. Brit. dent. J. 93, 210 (1952).
Grebe, H.: Erblicher Zwergwuchs. Ergebn. inn. Med. Kinderheilk. 12, 343 (1959).
Grumbach, M. M.: Personal communication 1963.
Hambrick, G. W., and H. G. Scheie: Studies of the skin in Hurler’s syndrome. Mucopolysaccharidosis. Arch. Derm. 85, 455 (1962).
Hooper, J. M. D.: An unusual case of gargoylism. Guy’s Hosp. Rep. 101, 222 (1952).
Hunter, C.: A rare disease in two brothers. Proc. roy. Soc. Med. (Sect. Dis. Child.) 10, 104 (1917).
Hurler, G.: Über einen Typ multipler Abartungen, vorwiegend am Skeletsystem. Z. Kinderheilk. 24, 220 (1919).
Klemm, E.: Minderwuchs infolge multipler enchondraler Dysostose bei zwei Geschwistern mit Hornhauttrübungen und Sturge-Weber-Syndrom. Mschr. Kinderheilk. 108, 356 (1960).
Lamy, M., and P. Maroteaux: Les chondrodystrophies genotypiques. Paris: Expansion 1960.
Lamy, M., and P. Maroteaux: Le nanisme diastrophique. Presse méd. 68, 1977 (1960).
Lamy, M., P. Maroteaux et J. P. Bader: Etude génétique du gargoylisme. J. Génét. hum. 6, 156 (1957).
Landing, B. H., F. N. Silverman, J. M. Craig, M. D. Jacoby, M. E. Lahey, and D. L. Chadwick: Familial neurovisceral lipidosis. Amer. J. Dis. Child. 108, 503 (1964).
Lindsay, S., W. A. Reilly, T. J. Gotham, and R. Skahem: Gargoylism. Study of pathologic lesions and clinical review of twelve cases. Amer. J. Dis. Child. 76, 239 (1948).
Lorincz, A. E.: Hurler’s syndrome in man and snorter dwarfism in cattle. Clinical Orthopaedics 33, 104 (1964).
Maroteaux, P., and M. Lamy: Opacités cornéennes et trouble métabolique dans la maladie de Morquio. Rev. franç. Étud. clin. biol. 6, 481 (1961).
McKusick, V. A.: Heritable disorders of connective tissue, second edit. St. Louis: C. V. Mosby Co. 1960.
McKusick, V. A., D. Kaplan, D. Wise, W. B. Hanley, and A. E. Maumanee: The mucopolysacchari-doses. Medicine (Baltimore) (in press).
McKusick, V. A.: Medical genetics 1963. J. chron. Dis. 17, 1077 (1964).
Meyer, K., M. M. Grumbach, A. Linker, and P. Hoffman: Excretion of sulfated mucopolysaccharides in gargoylism (Hurler’s syndrome). Proc. Soc. exp. Biol. (N.Y.) 97, 275 (1958).
Morquio, L.: Sur une forme de dystrophie osseuse familiale. Bull. Soc. Pédiat. Paris 27, 145 (1929).
Muir, H., U. Mittwoch, and T. Bitter: The diagnostic value of isolated urinary mucopolysaccharides and of lymphocytic inclusions in gargoylism. Arch. Dis. Childh. 38, 358 (1963).
Nja, A.: A sex-linked type of gargoylism. Acta paediat. (Uppsala) 33, 267 (1946).
Nonne, M.: Familiäres Vorkommen (3 Geschwister) einer Kombination von imperfekter Chondrodystrophie mit imperfektem Myxoedema infantile. Dtsch. Z. Nervenheilk. 83, 263 (1925).
Osler, W.: Sporadic cretinism in America. Amer. J. med. Sci. 114, 377 (1897).
Pedrini, V., L. Lennzi, and V. Zambotti: Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease. Proc. Soc. exp. Biol. (N.Y.) 110, 847 (1962).
Pelt, J. F. van: Gargoylism. Thesis Sittard 1960.
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Pterygium colli
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Laurence-Moon-Bardet-Biedl syndrome
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Wise, D. (1966). Hereditary disorders of connective tissue. In: Fritz-Niggli, H., et al. Vererbung von Hautkrankheiten. Handbuch der Haut- und Geschlechtskrankheiten. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-28637-1_7
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