Skip to main content

Part of the book series: Handbuch der Molekularen Medizin ((HDBMOLEK,volume 7))

  • 113 Accesses

Zusammenfassung

Unter erblichen Hauterkrankungen (Genodermatosen) werden Erkrankungen der Haut und ihrer Anhangsgebilde verstanden, die durch die Verßnderung einer einzigen Erbanlage bedingt sind, also monogen entsprechend den Mendel-Regeln vererbt werden. Zu den Genodermatosen lassen sich als wichtigste Erkrankungsgruppen benennen: Verhornungsstörungen, blasenbildende Erkrankungen, Bindegewebsstörungen, Aplasien und Anomalien, Störungen des Ektoderms, Pigmentanomalien, Haar- und Nagelerkrankungen, Erkrankungen der Mundschleimhaut sowie der Blut- und Lymphgefßße, Störungen der Talg- und Schweißdrüsen, Stoffwechsel- und Immundefekte, benigne und maligne Tumoren.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 79.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 99.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  • Bankier A. (1995) Menkes disease. J Med Genet 32:213–215

    PubMed  CAS  Google Scholar 

  • Baumer A., Bernthaler U., Wolz W., Höhn H., Schindler D. (1996) New mutations in the ataxia teleangiectasia gene. Hum Genet 98:246–249

    PubMed  CAS  Google Scholar 

  • Bayes M., Hartung A.J., Ezer S. et al. (1998) The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet 7:1661–1669

    PubMed  CAS  Google Scholar 

  • Beighton P., De Paepe A., Steinmann B., Tsipouras P., Wenstrup R.J. (1998) Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 77:31–37

    Google Scholar 

  • Bell M., Hoede N., Schopf R.E. (1993) Pseudo-Ainhum bei Morbus Vohwinkel. Keratoma hereditarium mutilans. Hautarzt 44:738–741

    PubMed  CAS  Google Scholar 

  • Bernatowicz L.F., Li X.M., Carrozzo R. et al. (1992) Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. Genomics 13:892–893

    PubMed  CAS  Google Scholar 

  • Böhler U., Wienert V. (1995) Hereditßres Angioödem: Klinik, Pathophysiologie und Therapie. Z Hautkrankh 70:482–495

    Google Scholar 

  • Boissy R.E., Zhao H., Oetting W.S. et al. (1996) Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as „OCA3”. Am J Hum Genet 58:1145–1156

    PubMed  CAS  Google Scholar 

  • Böni R., Huch Böni R., Tsambaos D., Spycher M.A., Trüeb R.M. (1995) Trichorhinophalangeal syndrome. Dermatology 190:152–155

    Google Scholar 

  • Bork K. (1997) Rezidivierende Angioödeme durch C1-Inhibitor-Mangel: Erstickungsrisiko. Dtsch Arztebl 94:576–582

    Google Scholar 

  • Bork K., Löst C. (1980) Extrapalmoplantare Hautsymptome und weitere klinische und ßtiologische, insbesondere immunologische Gesichtspunkte beim Papillon-Letevre-Syndrom. Hautarzt 31:179–183

    PubMed  CAS  Google Scholar 

  • Braun-Quentin C., Bathke K.C., Pfeiffer R.A. (1996) Das Sjögren-Larsson-Syndrom in Deutschland. Zufall oder eine Folge des Dreißigjßhrigen Krieges? Dtsch Arztebl 93:1039–1042

    Google Scholar 

  • Broughton B.C., Steingrimsdottir H., Weber C.A., Lehmann A.R. (1994) Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet 7:189–194

    PubMed  CAS  Google Scholar 

  • Bruckner-Tuderman L. (1994) Angeborene blasenbildende Erkrankungen. Z Hautkrankh 69:435–442

    Google Scholar 

  • Bruckner-Tuderman L. (1995) Epidermolysis bullosa hereditaria. Hautarzt 46:61–72

    PubMed  CAS  Google Scholar 

  • Burge S. (1994) Darier’s disease-the clinical features and pathogenesis. Clin Exp Dermatol 19:193–205

    PubMed  CAS  Google Scholar 

  • Burge S.M. (1995) Hailey-Hailey disease: an inherited disorder of cohesion. Eur J Dermatol 5:277–282

    Google Scholar 

  • Buss P.W., Hughes H.E., Clarke A. (1995) Twenty-four cases of the EEC syndrome: clinical presentation and management. J Med Genet 32:716–723

    PubMed  CAS  Google Scholar 

  • Campeau E., Watkins D., Rouleau G.A. et al. (1995) Linkage analysis of the nail-patella syndrome. Am J Hum Genet 56:243–247

    PubMed  CAS  Google Scholar 

  • Caux F., Aractingi S., Sawaf M.H., Ouhayoun J.P., Dubertret L., Gluckman E. (1996) Dyskeratosis congenita. Eur J Dermatol 6:332–334

    Google Scholar 

  • Choate K.A., Khavari P.A. (1997) Direct cutaneous gene delivery in a human genetic skin disease. Hum Gene Ther 8:1659–1665

    PubMed  CAS  Google Scholar 

  • Collod G., Babron M.C., Jondeau G. et al. (1994) A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet 8:264–268

    PubMed  CAS  Google Scholar 

  • De Paepe A (1994) Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management. Dermatology [Suppl 2] 189:21–25

    PubMed  Google Scholar 

  • De Paepe A., Devereux R.B., Dietz H.C., Hennekam R.C.M., Pyeritz R.E. (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417–426

    PubMed  CAS  Google Scholar 

  • De Paepe A., Nuytinck L., Hausser I., Anton-Lamprecht I., Naeyaert J.M. (1997) Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes land II. Am J Hum Genet 60:547–554

    PubMed  Google Scholar 

  • Deybach J.C., Puy H., Robreau A.M. et al. (1996) Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Hum Mol Genet 5:407–410

    PubMed  CAS  Google Scholar 

  • Dierick H.A., Adam A.N., Escara-Wilke J.F., Glover T.W. (1997) Immunocytochemical localization of the Menkes copper transport protein (ATP7 A) to the trans-Golgi network. Hum Mol Genet 6:409–416

    PubMed  CAS  Google Scholar 

  • DiGiovanna J.J., Bale S.J. (1994) Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol 130:1026–1035

    PubMed  CAS  Google Scholar 

  • Doss M.O. (1996) Krankheiten und Störungen der Porphyrinund Hßmbiosynthese. In: Gross R., Schölmerich P., Gerok W. (Hrsg) Die Innere Medizin, 9. Aufl. Schattauer, Stuttgart New York, S 1002–1017

    Google Scholar 

  • Ellis N.A., German J. (1996) Molecular genetics of Bloom’s syndrome. Hum Mol Genet 5:1457–1463

    PubMed  CAS  Google Scholar 

  • Eng C.M., Niehaus D.J., Enriquez A.L., Burgert T.S., Ludman M.D., Desnick R.J. (1994) Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the a-galactosidase A gene. Hum Mol Genet 3:1795–1799

    PubMed  CAS  Google Scholar 

  • Esche C., Kruse R., Lamberti C. et al. (1997) Muir-Torre syndrome: clinical features and molecular genetic analysis. Br J Dermatol 136:913–917

    PubMed  CAS  Google Scholar 

  • Fartasch M., Diepgen T.L., Hornstein O.P. (1989) Atopic dermatitis-ichthyosis vulgaris-hyperlinear palms-an ultrastructural study. Dermatologica 178:202–205

    PubMed  CAS  Google Scholar 

  • Findlay G.H., Morrison J.G.L. (1978) Erythrokeratolysis hiemalis-keratolytic winter erythema or „Oudtshoorn skin”. A new epidermal genodermatosis with its histological features. Br J Dermatol 98:491–495

    PubMed  CAS  Google Scholar 

  • Fine J.D., Bauer E.A., Briggaman R.A. et al. (1991) Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the subcommitee on diagnosis and classification of the national epidermolysis bullosa registry. J Am Acad Dermatol 24:119–135

    PubMed  CAS  Google Scholar 

  • Frederick G.D., Amirkhan R.H., Schultz R.A., Friedberg E.C. (1994) Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Hum Mol Genet 3:1783–1788

    PubMed  CAS  Google Scholar 

  • Friedberg E.C. (1992) Xeroderma pigmentosum, Cockayne’s syndrome, helicases, and DNA repair: what’s the relationship? Cell 71:887–889

    PubMed  CAS  Google Scholar 

  • Friedman J.M., Birch P.H. (1997) Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet 70: 138–143

    PubMed  CAS  Google Scholar 

  • Fritsch C., Bolsen K., Ruzicka T., Goerz G. (1997) Congenital erythropoietic porphyria. J Am Acad Dermatol 36:594–610

    PubMed  CAS  Google Scholar 

  • Fukushima Y., Ohashi H., Hasegawa T. (1993) The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization. Clin Genet 44:50

    PubMed  CAS  Google Scholar 

  • Gamborg-Nielsen P. (1994a) Hereditary palmoplantar keratoderma and dermatophytosis in the northernmost county of Sweden (Norrbotten). Acta Derm Venereol Suppl (Stockh) 188:1–60

    Google Scholar 

  • Gamborg-Nielsen P. (1994b) The dominant form of hereditary palmoplantar keratoderma in the nothernmost county of Sweden (Norrbotten). Dermatology 188:188–193

    PubMed  CAS  Google Scholar 

  • Gerretsen A.L., Beemer F.A., Deenstra W., Hennekam F.A.M., Van Vloten W.A. (1995) Familial cutaneous cylindromas: investigations in five generations of a family. J Am Acad Dermatol 33: 199–206

    PubMed  CAS  Google Scholar 

  • Goerz G., Scharffetter-Kochanek K. (1994) Die Porphyrien. Aktuelle Dermatol 20:103–113

    Google Scholar 

  • Goerz G., Bunselmeyer S., Bolsen K., Schürer N.Y. (1996) Ferrochelatase activities in patients with erythropoietic protoporphyria and their families. Br J Dermatol 134:880–885

    PubMed  CAS  Google Scholar 

  • Goldberg Y., Dibbern K., Klein J., Riccardi V.M., Graham J.M. (1996) Neurofibromatosis type 1-an update and review for the primary pediatrician. Clin Pediatr 35:545–561

    CAS  Google Scholar 

  • Gray J.R., Davies S.J. (1996) Marfan Syndrome. J Med Genet 33:403–408

    PubMed  CAS  Google Scholar 

  • Greer W.L., Shehabeldin A., Schulman J., Junker A., Siminovitch K.A. (1996) Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome. Hum Genet 98:685–690

    PubMed  CAS  Google Scholar 

  • Hamm H., Metze D., Bröcker E.B. (1994) Hailey-Hailey disease. Eradication by dermabrasion. Arch Dermatol 130:1143–1149

    PubMed  CAS  Google Scholar 

  • Hanssen A.M.N., Fryns J.P. (1995) Cowden syndrome. J Med Genet 32:117–119

    PubMed  CAS  Google Scholar 

  • Happle R. (1986) The McCune-Albright syndrome: alethal gene surviving by mosaicism. Clin Genet 29:321–324

    PubMed  CAS  Google Scholar 

  • Happle R., Manegold H.G. (1979) Weißer Schleimhautnßvus. Hautarzt 30:30–32

    PubMed  CAS  Google Scholar 

  • Harada H., Hashimoto K., Ko M.S.H. (1996) The gene for multiple familial trichoepithelioma maps to chromosome 9p21. J Invest Dermatol 107:41–43

    PubMed  CAS  Google Scholar 

  • Hartig C., Stieler W., Stadler R. (1995) Muir-Torre-Syndrom. Diagnosekriterien und Literaturübersicht. Hautarzt 46:107–113

    PubMed  CAS  Google Scholar 

  • Heikkinen J., Toppinen T., Yeowell H. et al. (1997) Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet 60:48–56

    PubMed  CAS  Google Scholar 

  • Hennies H.C., Zehender D., Kunze J., Küster W., Reis A. (1994) Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum Genet 93:649–654

    PubMed  CAS  Google Scholar 

  • Hennies H.C., Hagedorn M., Reis A. (1995) Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster. Genomics 29:537–540

    PubMed  CAS  Google Scholar 

  • Hennies H.C., Küster W., Wiebe V., Krebsova A., Reis A. (1998) Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am J Hum Genet 62:1052–1061

    PubMed  CAS  Google Scholar 

  • Herd R.M., Faragher G.A., Shall S., Hunter J.A.A. (1993) Werner’s syndrome: a review of the clinical and pathological features and pathogenesis. Eur J Dermatol 3:425–432

    Google Scholar 

  • Herges A., Stieler W., Stadler R. (1993) Das Basex-DupreChristol-Syndrom. Follikulßre Atrophodermie, multiple Basaliome und Hypotrichose. Hautarzt 44:385–391

    PubMed  CAS  Google Scholar 

  • Höger P.H., Henschel M.G. (1997) Skelettanomalien beim Nagel-Patella-Syndrom. Hautarzt 48:581–585

    PubMed  Google Scholar 

  • Huber M., Rettler I., Bernasconi K. et al. (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267:525–528

    PubMed  CAS  Google Scholar 

  • Hin P., Levy C.A., Sommacal-Schopf D., Schnyder U.W. (1992) Familienuntersuchung zur Erythrokeratodermia figurata variabilis. Hautarzt 43:500–504

    Google Scholar 

  • Ho M., Hashimoto K., Katsuumi K., Sato Y. (1990) Pathogenesis of monilethrix: computer stereography and electron microscopy. J Invest Dermatol 95:186–194

    Google Scholar 

  • Jagell S., Gustavson K.H., Holmgren G. (1981) Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study. Clin Genet 19:233–256

    PubMed  CAS  Google Scholar 

  • Johnson R.T., Squires S. (1992) The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne’ syndrome and trichothiodystrophy. Mutat Res 273:97–118

    PubMed  CAS  Google Scholar 

  • Johnson D.W., Berg J.N., Baldwin M.A. et al. (1996) Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic teleangiectasia type 2. Nat Genet 13:189–195

    PubMed  CAS  Google Scholar 

  • Johnson R.L., Rothman A.L., Xie J. et al. (1996) Human homolog of patched, a candidate gen for the basal cell nevus syndrome. Science 272:1668–1671

    PubMed  CAS  Google Scholar 

  • Jones D.O., Watts C., Mills C., Sharpe G., Marls R., Bowden P.E. (1997) A new keratin 2e mutation in ichthyosis bullosa of Siemens. J Invest Dermatol 108:354–356

    PubMed  CAS  Google Scholar 

  • Jones A.C., Shyamsundar M.M., Thomas M.W. et al. (1999) Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 64:1305–1315

    PubMed  CAS  Google Scholar 

  • Karim M.A., Nagle D.L., Kandil H.H., Bürger J., Moore K.J., Spritz R.A. (1997) Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 6:1087–1089

    PubMed  CAS  Google Scholar 

  • Kauppinen R., Mustajoki S., Pihlaja H., Peltonen L., Mustajoki P. (1995) Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. Hum Mol Genet 4:215–222

    PubMed  CAS  Google Scholar 

  • Keith D., Armstrong B., McKenna K.E. et al. (1999) Haplo-insufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 8: 143–148

    CAS  Google Scholar 

  • KelseH D.P., Risk J.M., Leigh I. et al. (1996) Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC). Hum Mol Genet 5:857–860

    Google Scholar 

  • Kidd A., Carson L., Gregory D.W. et al. (1996) A Scottish family with Basex-Dupré-Christol syndrome: foHicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma. J Med Genet 33:493–497

    PubMed  CAS  Google Scholar 

  • Kimonis V.E., Goldstein A.M., Pastakia B. et al. (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299–308

    PubMed  CAS  Google Scholar 

  • Knight S.W., Heiss N.S., Vulliamy T.J. et al. (1999) X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet 65:50–58

    PubMed  CAS  Google Scholar 

  • Knipe R.C., Flowers F.P., Johnson Jr F.R., DeBusk F.L., Ramos-Caro F.A. (1995) Erythrokeratoderma variabilis: Case report and review of the literature. Pediatr Dermatol 12:21–23

    PubMed  CAS  Google Scholar 

  • Kolluri R, Tolias K.F., Carpenter C.L., Rosen F.S., Kirchhausen T. (1996) Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42. Proc Natl Acad Sci USA 93:5615–5618

    PubMed  CAS  Google Scholar 

  • Korge B.P., Krieg T. (1996) The molecular basis for inherited bullous diseases. J Mol Med 74:59–70

    PubMed  CAS  Google Scholar 

  • Korn R., Ramkissoon Y. (1995) Mapping to the point. Nature 378:557–558

    PubMed  CAS  Google Scholar 

  • Kraemer K.H., Lee M.M., Scotto J. (1987) Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 123:241–250

    PubMed  CAS  Google Scholar 

  • Krasovec M., Elsner P., Burg G. (1995) Cowden-Syndrom. Hautarzt 46:472–476

    PubMed  CAS  Google Scholar 

  • Küster W. (1987) Piebaldismus. Hautarzt 38:481–483

    PubMed  Google Scholar 

  • Küster W. (1999) Palmar and plantar hyperkeratosis. In: Demis D.J. (ed) Clinical dermatology, vol 1,1–31, 26th revision. Lippincott-Raven, Philadelphia, pp 1-23

    Google Scholar 

  • Küster W., Becker A. (1992) Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vörner. Thost’s family revisited 110 years later. Acta Dermatol Venereol (Stockh) 72:120–122

    Google Scholar 

  • Küster W., Happle R. (1983) Genodermatosen bei Mensch und Tier. Hautarzt 34:539–547

    PubMed  Google Scholar 

  • Küster W., König A. (1999) Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism. Am J Med Genet 85:346–350

    PubMed  Google Scholar 

  • Küster W., Majewski F., Meinecke P. (1985) EEC syndrome without ectrodactyly? Report of 9 cases. Clin Genet 28:130–135

    PubMed  Google Scholar 

  • Küster W., Hennies H.C., Reis A. (1995a) Keratosis palmoplantaris striata Brünauer-Fuhs-Siemens-Klinische, lipidbiochemische und molekularbiologische Untersuchungen. Z Hautkrankh 70:263–268

    Google Scholar 

  • Küster W., Zehender D., Mensing H., Hennies H.C., Reis A. (1995b) Keratosis palmoplantaris diffusa Vörner. Klinische, formalgenetische und molekularbiologische Untersuchungen bei 22 Familien. Hautarzt 46:705–710

    PubMed  Google Scholar 

  • Laass M., Hennies H.C., Jung M. et al. (1997) Papillon-Lefevre syndrome: localisation of a gene to chromosome 11q13.5-21 near the ultrahigh-sulphur keratin gene by homozygosity mapping. Med Genet 9:91

    Google Scholar 

  • Landy S.J., Donnai D. (1993) Incontinentia pigmenti (BlochSulzberger syndrome). J Med Genet 30:53–59

    PubMed  CAS  Google Scholar 

  • Laurenzi V. de, Rogers G.R., Hamrock D.J. et al. (1996) Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 12:52–57

    PubMed  Google Scholar 

  • Legerski R.J., Liu P., Li L. et al. (1994) Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25. Genomics 21:266–269

    PubMed  CAS  Google Scholar 

  • Lehmann A.R., Hoeijmakers J.H.J., Van Zeeland A.A. et al. (1992) Workshop on DNA repair. Mutat Res 273:1–28

    PubMed  CAS  Google Scholar 

  • Lenzner U., Happle R., Kremer H. et al. (1996) Ichthyosis bullosa of Siemens: a distinct type of epidermolytic hyperkeratosis. Eur J Dermatol 6:164–167

    Google Scholar 

  • Levanat S., Gorlin R.J., Fallet S., Johnson D.R., Fantasia J.E., Bale A.E. (1996) A two-hit model for developmental defects in Gorlin syndrome. Nat Genet 12:85–87

    PubMed  CAS  Google Scholar 

  • Li L., Bales E.S., Peterson C.A., Legerski R.J. (1993) Characterization of molecular defects in xeroderma pigmentosum group C. Nat Genet 5:413–417

    PubMed  CAS  Google Scholar 

  • Liaw D., Marsh D.J., Li J. et al. (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and tyroid cancer syndrome. Nat Genet 16:64–67

    PubMed  CAS  Google Scholar 

  • Lind L., Lundström, A., Hofer P.A., Holmgren G. (1994) The gene of diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. Hum Mol Genet 3:1789–1793

    PubMed  CAS  Google Scholar 

  • Lipscomb K.J., Clayton-Smith J., Harris R. (1997) Evolving phenotype of Marfan’s syndrome. Arch Dis Child 76:41–46

    PubMed  CAS  Google Scholar 

  • Lüdecke H.J., Wagner M.J., Nardmann J. et al. (1995) Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet 4:31–36

    PubMed  Google Scholar 

  • Maestrini E., Monaco A.P., McGrath J.A. et al. (1996) A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome. Nat Genet 13:70–77

    PubMed  CAS  Google Scholar 

  • Maestrini E., Korge B.P., Ocafta-Sierra J. et al. (1999) A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families. Hum Mol Genet 8:1237–1243

    PubMed  CAS  Google Scholar 

  • Majewski F., Küster W. (1988) EEC syndrome sine sine? Report of a family with oligosymptomatic EEC syndrome. Clin Genet 33:69–72

    PubMed  CAS  Google Scholar 

  • Marks R., Dykes P.J. (1978) The ichthyoses. MTP, Lancaster

    Google Scholar 

  • McCormick F. (1995) Ras signaling and NF1. Curr Opin Genet Dev 5:51–55

    PubMed  CAS  Google Scholar 

  • McKusick V.A. (1998) Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive, and Xlinked phenotypes, 12th edn. Johns Hopkins, Baltimore

    Google Scholar 

  • Mevorah B., Krayenbuhl A., Bovey E.H., Melle G.D. van (1991) Autosomal dominant ichthyosis and X-linked ichthyosis. Acta Derm Venereol (Stockh) 71:431–434

    CAS  Google Scholar 

  • Meyer J.C., Gilardi S. (1986) Biochemische Diagnose der Xchromosomalen Ichthyose. Hautarzt 37:205–209

    PubMed  CAS  Google Scholar 

  • Mücke J., Hoepffner W., Thamm B., Theile H. (1995) MIDAS syndrome (microphthalmia, dermal aplasia and sclerocornea): an autonomous entity with linear skin defects within the spectrum of focal hypoplasias. Eur J Dermatol 5:197–203

    Google Scholar 

  • Munro C.S. (1992) The phenotype of Darier’s disease: penetrance and expressivity in adults and children. Br J Dermatol 127: 126–130

    PubMed  CAS  Google Scholar 

  • Munro C.S., McLean W.H.I., Rugg E.L. et al. (1995) The major clinical types of pachyonychia congenita are due to mutations in keratins 16 or 17. Br J Dermatol 133, S 45:13

    Google Scholar 

  • Nishigor i C., Zghal M., Yagi T., Imamura S., Komoun M.R., Takebe H. (1993) High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. Am J Hum Genet 53:1001–1006

    Google Scholar 

  • Nomura K., Nakano H., Umeki K. et al. (1995) A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. Acta Derm Venereol (Stockh) 75:340–342

    CAS  Google Scholar 

  • Nouspikel T., Clarkson S.G. (1994) Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. Hum Mol Genet 3:963–967

    PubMed  CAS  Google Scholar 

  • Oosterwijk J.C., Wielen M.J.R. van der, Vosse E. van de, Voorhoeve E., Bakker E. (1995) Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. J Med Genet 32:736–739

    PubMed  CAS  Google Scholar 

  • Oppolzer A., Tanew A., Oppolzer U. (1990) Anhidrotische ektodermale Dysplasie bei einem 6jßhrigen Knaben. Padiatr Prax 40:277–282

    Google Scholar 

  • Örge C., Bonsmann G., Hamm H. (1991) Multiple Talgdrüsenhyperplasien bei X-chromosomaler hypohidrotischer ektodermaler Dysplasie. Hautarzt 42:645–647

    PubMed  Google Scholar 

  • Oshima J., Yu C.E., Piussan C. et al. (1996) Homozygous and compound heterzygous mutations at the Werner syndrome locus. Hum Mol Genet 5:1909–1913

    PubMed  CAS  Google Scholar 

  • Parmentier L., Lakhdar H., Blanchet-Bardon C., Marchand S., Dubertret L., Weissenbach J. (1996) Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35. Hum Mol Genet 5:555–559

    PubMed  CAS  Google Scholar 

  • Peris K., Salvati E.F., Torlone G., Chimenti S. (1995) Keratoderma hereditarium mutilans (Vohwinkel’s syndrome) associated with congenital deaf-mutism. Br J Dermatol 132:617–620

    PubMed  CAS  Google Scholar 

  • Podglajen-Wecxsteen O., Delaporte E., Piette F., Le Flohic X., Bergoend H. (1993) Tyrosinose oculo-cutanee de type II. Ann Dermatol Venereol 120:139–142

    PubMed  CAS  Google Scholar 

  • Porteous M.E.M., Burn J., Proctor J. (1992) Hereditary haemorrhagic teleangiectasia: a clinical analysis. J Med Genet 29:527–530

    PubMed  CAS  Google Scholar 

  • Preis S., Wahn V., Kressin S., Herforth A., Lenard H.G. (1994) Papillon-Lefevre-Syndrom. Eine akroektodermale Differenzierungsstörung mit vorzeitigem Zahnverlust, die mit Retinoiden therapierbar ist? Monatsschr Kinderheilkd 142:93–96

    Google Scholar 

  • Putnam E.A., Parks E.S., Aalfs C.M., Hennekam R.C.M., Milewicz D.M. (1997) Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcripted levels in dermal fibroblasts. Am J Hum Genet 60:818–827

    PubMed  CAS  Google Scholar 

  • Radhakrishna U., Blouin J.L., Mehenni H. et al. (1997) The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. Am J Med Genet 71:80–86

    CAS  Google Scholar 

  • Ragunath M., Nienaber C., Von Kodolitsch Y. (1997) 100 Jahre Marfan-Syndrom-eine Bestandsaufnahme. Dtsch Arztebl 94:656–662

    Google Scholar 

  • Redonnet-Vernhet I., Ploos van Amstel J.K., Jansen R.P.M., Wevers R.A., Salvayre T. (1996) Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the a-galactosidase A gene. J Med Genet 33:682–688

    Google Scholar 

  • Reed V., Boyd Y. (1997) Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes’ disease. Hum Mol Genet 6:417–423

    PubMed  CAS  Google Scholar 

  • Reis A., Küster W., Linss G. et al. (1992) Localization of the gene for the nevoid basal-cell carcinoma syndrome. Lancet 339:617

    PubMed  CAS  Google Scholar 

  • Reis A., Hennies H.C., Langbein L. et al. (1994) Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 6:174–179

    PubMed  CAS  Google Scholar 

  • Richard G., Harth W. (1993) Keratosis follicularis spinulosa decalvans. Therapie mit Isotretinoin und Etretinat im entzündlichen Stadium. Hautarzt 44:529–534

    PubMed  CAS  Google Scholar 

  • Richard G., Korge B.P., Wright A.R. et al. (1995) Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. J Invest Dermatol 105:357–360

    PubMed  CAS  Google Scholar 

  • Richard G., Itin P., Lin J.P., Bon A., Bale S.J. (1996) Evidence for genetic heterogeneity in monilethrix. J Invest Dermatol 107:812–814

    PubMed  CAS  Google Scholar 

  • Richard G., Smith L.E., Bailey R.A. et al. (1998) Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 20:366–369

    PubMed  CAS  Google Scholar 

  • Rickman L., Simrak D., Stevens H.P. et al. (1999) N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 8:971–976

    PubMed  CAS  Google Scholar 

  • Roach E.S., DiMario F.J., Kandt R.S., Northrup H. (1999) Tuberous sclerosis consensus conference: recommendations for diagnostic evaluation. J Child Neurol 14:401–407

    PubMed  CAS  Google Scholar 

  • Roberts A.G., Eider G.H., De Salamanca R.E., Herrero C., Lecha M., Mascaro J.M. (1995) A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on spanish patients. J Invest Dermatol 104:500–502

    PubMed  CAS  Google Scholar 

  • Rothnagel J.A., Dominey A.M., Dempsey L.D. et al. (1992) Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 257: 1128–1130

    PubMed  CAS  Google Scholar 

  • Rothnagel J.A., Longley M.A., Holder R.A., Küster W., Roop D.R. (1994a) Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. J Invest Dermatol 102: 13–16

    PubMed  CAS  Google Scholar 

  • Rothnagel J.A., Traupe H., Wojcik S. et al. (1994b) Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet 7:485–490

    PubMed  CAS  Google Scholar 

  • Rott H.D., Fahsold R. (1993) Klinik und Genetik der tuberösen Sklerose. Dtsch Arztebl 90:429–439

    Google Scholar 

  • Rugg E.L., McLean W.H.I., Allison W.E. et al. (1995) A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. Nat Genet 11:450–452

    PubMed  CAS  Google Scholar 

  • Sakuntabhai A., Ruiz-Perez V., Carter S. et al. (1999) Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet 21:271–277

    PubMed  CAS  Google Scholar 

  • Sasaki T., Tonoki H., Soejima H., Niikawa N. (1997) A 4 Mb cryptic deletion associated with inv(8)(q13.1 q24.11) in a patient with trichorhinophalangeal syndrome type 1. J Med Genet 34:335–339

    PubMed  CAS  Google Scholar 

  • Sawada S., Florell S., Purandare S.M., Ota M., Stephens K., Viskochil D. (1996) Identification of NFI mutations in both alleles of adermal neurofibroma. Nat Genet 14:110–112

    PubMed  CAS  Google Scholar 

  • Schnyder U.W., Bruckner-Tuderman L. (1990) Hereditßre Dermatosen. Erbkrankheiten: gestern, heute und morgen. Hautarzt [Suppl 10] 41:19–22

    Google Scholar 

  • Shanley S., Ratcliffe J., Hockey A. et. al. (1994) Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 50:282–290

    PubMed  CAS  Google Scholar 

  • Shelley E.D., Shelley W.B., Kurczynski T.W. (1995) Painful fingers, heat intolerance, and teleangiectases of the ear: easily ignored childhood signs of Fabry disease. Pediatr Dermatol 12:215–219

    PubMed  CAS  Google Scholar 

  • Shenker A., Weinstein L.S., Moran A. et al. (1993) Severe endrocrine and nonendocrine manifestations of the McCuneAlbright syndrome associated with activating mutations of stimulatory G protein Gs. J Pediatr 123:509–518

    PubMed  CAS  Google Scholar 

  • Sijbers A.M., De Laat W.L., Ariza R.R. et al. (1996) Xeroderma pigmentosum group F caused by a defect in a structurespecific DNA repair endonuclease. Cell 86:811–822

    PubMed  CAS  Google Scholar 

  • Sillen A., Anton-Lamprecht I., Braun-Quentin C. et al. (1998) Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. Hum Mutat 12:377–384

    PubMed  CAS  Google Scholar 

  • Silva A.J., Frankland P.W., Marowitz Z. et al. (1997) A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Nat Genet 15:281–284

    PubMed  CAS  Google Scholar 

  • Siminovitch K.A., Greer W.L., Novogrodsky A., Axelsson B., Somani A.K., Peacocke M. (1995) A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms. J Invest Med 43:159–169

    CAS  Google Scholar 

  • Smahl A., Hyden-Granskog C., Peterlin B. et al. (1994) The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Mol Genet 3:273–278

    Google Scholar 

  • Smith F.J.D., Corden L.D., Rugg E.L. et al. (1997) Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol 108:220–223

    PubMed  CAS  Google Scholar 

  • Soskoine W.A., Stabholz A., Van Dyke T.E., Hart T.C., Meyle J. (1996) Partial expression of the Papillon-Lefevre syndrome in 2 unrelated families. J Clin Periodontol 23:764–769

    Google Scholar 

  • Spritz R.A. (1994a) Molecular basis of human piebaldism. J Invest Dermatol 103:137S–140S

    PubMed  CAS  Google Scholar 

  • Spritz R.A. (1994b) Molecular genetics of oculocutaneous albinism. Hum Mol Genet 3:1469–1475

    PubMed  CAS  Google Scholar 

  • Spritz R.A., Holmes S.A., Itin P., Küster W. (1993) Novel mutations of the KIT (mast/stern cell growth factor receptor) gene in human piebaldism. J Invest Dermatol 101:22–25

    PubMed  CAS  Google Scholar 

  • Spritz R.A., Fukai K., Holmes S.A., Luande J. (1995) Frequent intragenic deletion of the P gene in Tansanian patients with type 11 oculocutaneous albinism (OCA2). Am J Hum Genet 56:1320–1323

    PubMed  CAS  Google Scholar 

  • Stßhler J., Worret W.I. (1987) Hidrotische ektodermale Dysplasie (M. Clouston). Aktuelle Dermatol 13:107–109

    Google Scholar 

  • Starfield M., Hennies H.C., Jung M. et al. (1997) Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakersAm J Hum Genet 61:370–378

    CAS  Google Scholar 

  • Stefanini M., Fawcett H., Botta E., Nardo T., Lehmann A.R. (1996) Genetic analysis of twenty-two patients with Cockayne syndrome. Hum Genet 97:418–423

    PubMed  CAS  Google Scholar 

  • Stevens H.P., Kelsell D.P., Bryant S.P. et al. (1996a) Linkage of an american pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol 132:640–651

    PubMed  CAS  Google Scholar 

  • Stevens H.P., Kelsell D.P., Leigh I.M., Osterle L.S., Macderrnot K.D., Rustin M.H.A. (1996b) Punctate palmoplantar keratoderma and malignancy in a four-generation family. Br J Dermatol 134:720–726

    PubMed  CAS  Google Scholar 

  • Su W.P.D., Chun S.I., Hammond D.E., Gordon H. (1990) Pachyonychia congenita: a clinical study of 12 cases and review of the literature. Pediatr Dermatol 7:33–38

    PubMed  CAS  Google Scholar 

  • Sugimoto Y., Aksentijevich I., Murray G.J., Brady R.O., Pastan I., Gottesman M.M. (1995) Retroviral coexpression of a multidrug resistance gene (MDR1) and human a-galactosidase A for gene therapy of Fabry disease. Hum Gene Ther 6:905–915

    PubMed  CAS  Google Scholar 

  • Swift M., Morrell D., Massey R.B., Chase C.L. (1991) Incidence of cancer in 161 families affected by ataxia-teleangiectasia. N Engl J Med 325:1831–1836

    PubMed  CAS  Google Scholar 

  • Swift M., Heim R.A., Lench N.J. (1993) Genetic aspects of ataxia teleangiectasia. Adv Neurol 61:115–125

    PubMed  CAS  Google Scholar 

  • Sybert V.P., Dale B.A., Holbrook K.A. (1985) Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol 84:191–194

    PubMed  CAS  Google Scholar 

  • Syder A.J., Yu Q.C., Paller A.S., Giudice G., Pearson R., Fuchs E. (1994) Genetic mutations in the K1 and K1O genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. J Clin Invest 93:1533–1542

    PubMed  CAS  Google Scholar 

  • Tallab T.M. (1996) Richner-Hanhart syndrome: importance of early diagnosis and early intervention. J Am Acad Dermatol 35: 857–859

    PubMed  CAS  Google Scholar 

  • Thomsett L.R. (1996) Naturally occurring genetic skin diseases in animals. In: Harper J. (ed) Inherited skin disorders. The genodermatoses. Butterworth, Oxford, pp 22–36

    Google Scholar 

  • Todd D.J. (1994) Erythropoetische Protoporphyrie. Z Hautkrankh 69:846–859

    Google Scholar 

  • Traupe H. (1989) The ichthyoses. A guide to clinical diagnosis, genetic counseling, and therapy. Springer, Berlin Heidelberg New York

    Google Scholar 

  • Traupe H., Happle R. (1983) Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism. Eur J Pediatr 140:19–21

    PubMed  CAS  Google Scholar 

  • Tümer Z., Horn N. (1997) Menkes disease: recent advances and new aspects. J Med Genet 34:265–274

    PubMed  Google Scholar 

  • Unden A.B., Stßhle-Bßckdahl M., Holmberg E., Larsson, C., Toftgard R. (1997) Fine mapping of the locus for nevoid basal cell carcinoma syndrome on chromosome 9q. Acta Derm Venereol (Stockh) 77:4–9

    CAS  Google Scholar 

  • Vabres P., Lacombe D., Rabinowitz L.G. et al. (1995) The gene for Basex-Dupre-Christol syndrome maps to chromosome Xq. J Invest Dermatol 105:87–91

    PubMed  CAS  Google Scholar 

  • Van Balkom I.D.C., Hennekam R.C.M. (1994) Dermal eccrine cylindromatosis. J Med Genet 31:321–324

    PubMed  Google Scholar 

  • Vehring K.H., Kurlemann G., Traupe H. et al. (1993) Incontinentia pigmenti bei einem mßnnlichen Sßugling. Hautarzt 44:726–730

    PubMed  CAS  Google Scholar 

  • Vermeulen W., Scott R.J., Rodgers S. et al. (1994) Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet 54:191–200

    PubMed  CAS  Google Scholar 

  • Viljoen D. (1994) Congenital contractural arachnodactyly (Beals syndrome). J Med Genet 31:640–643

    PubMed  CAS  Google Scholar 

  • Vincent P., Plauchu H., Faunré S., Weissenbach J., Godet J. (1995) A third locus for hereditary haemorrhagic teleangiectasia maps to chromosome 12q. Hum Mol Genet 4:945–949

    PubMed  CAS  Google Scholar 

  • Ward K.A., Moss C., Sanders D.S.A. (1995) Human piebaldism: relationship between phenotype and site of kit gene mutation. Br J Dermatol 132:929–935

    PubMed  CAS  Google Scholar 

  • Watters D., Khanna K.K., Beamish H. et al. (1997) Cellular localisation of the ataxia-teleangiectasia (ATM) gene product and discrimination between mutated and normal forms. Oncogene 14:1911–1921

    PubMed  CAS  Google Scholar 

  • Webb D.W., Clarke A., Fryer A., Osborne J.P. (1996) Die Hautsymptome der tuberösen Sklerose: eine Populations-Studie. Z Hautkrankh 71:569–573

    Google Scholar 

  • Weinstein L.S., Shenker A., Gejman P.V., Merino M.J., Friedman E.. Spiegel A.M. (1991) Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688–1695

    PubMed  CAS  Google Scholar 

  • Wildfeuer T., Albrecht G. (1996) Nagel-Patella-Syndrom. Hautarzt 47:860–862

    PubMed  CAS  Google Scholar 

  • Williams M.L., Elias P.M. (1985) Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 121:477–488

    PubMed  CAS  Google Scholar 

  • Winter H., Clark. R.D., Tarras-Wahlberg C., Rogers M.A., Schweizer J. (1999) Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type 11 hair keratin hHb6. J Invest Dermatol 113:263–266

    PubMed  CAS  Google Scholar 

  • Wright J., Teraoka S., Onengut S. et al. (1996) High frequency of distinct ATM gene mutations in ataxia-teleangiectasia. Am J Hum Genet 59:839–846

    PubMed  CAS  Google Scholar 

  • Würzner R., Werfel T. (1997) Das Komplementsystem. Hautarzt 48:588–596

    PubMed  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2000 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Küster, W. (2000). Erbliche Hauterkrankungen. In: Ganten, D., Ruckpaul, K. (eds) Monogen bedingte Erbkrankheiten 2. Handbuch der Molekularen Medizin, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-57044-5_7

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-57044-5_7

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-62996-9

  • Online ISBN: 978-3-642-57044-5

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics