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Other Genodermatoses

  • Ru-Zhi Zhang
  • Qiang Ju
  • Ying Sun
  • Li-Xin Zhai
  • Jian-Fang Sun
  • Shu-Qiong Huang
  • Xiu-Kun Sun
  • Jian-Kai Pan
  • Yuan Lu
  • Zhi-Yuan Yao
  • Ai-Qin Wang
  • Shu-Xiao Zhao
  • Wen-Yuan Zhu
  • Dong-Lai Ma
  • Wen-Jun Liao
  • Jun Li
  • Liang Zhao
  • Cheng TanEmail author
  • Jin Hu
  • Bin Xu
  • Song Li
  • Ji-Hong Gan
  • Tao Wang
  • Xiao-Hai Yuan
  • Hong-wei Wang
  • Liu-Qing Chen
  • Liang Gao
  • Mei Wu
  • Zhi-Fang Zhai
  • Yin Xiao
Chapter

Abstract

Besides genodermatoses with presentation of keratoderma, other hereditary cutaneous diseases and syndromes considered in this chapter are incontinentia pigmenti, epidermolysis bullosa simplex, recessive dystrophic epidermolysis bullosa (generalized, severe), dystrophic epidermolysis bullosa pruriginosa, pretibial epidermolysis bullosa, Hailey-Hailey disease, ichthyosis bullosa of Siemens, bullous congenital ichthyosiform erythroderma, collodion baby, Rothmund-Thomson syndrome, Rapp-Hodgkin syndrome, focal dermal hypoplasia, aplasia cutis congenital, dyskeratosis congenita, rudimentary polydactyly, keratosis follicularis spinulosa decalvans, pachydermoperiostosis, xeroderma pigmentosum, cutis tricolor parvimaculata, congenital thymic dysplasia, pachyonychia congenita, Papillon-Lefèvre syndrome, Olmsted syndrome, nail-patella syndrome, Keratitis-ichthyosis-deafness syndrome, Netherton syndrome, Bloom’s syndrome, tricho-rhino-phalangeal syndrome, proteus syndrome, stiff skin syndrome, Rombo syndrome, prune-belly syndrome, infantile digital fibromatosis, and juvenile hyaline fibromatosis.

References

  1. 1.
    Sybert VP. Incontinentia pigmenti nomenclature. Am J Hum Genet. 1994;55(1):209–11.PubMedPubMedCentralGoogle Scholar
  2. 2.
    Minic S, Trpinac D, Obradovic M. Incontinentia pigmenti diagnostic criteria update. Clin Genet. 2014;85(6):536–42.  https://doi.org/10.1111/cge.12223.CrossRefPubMedGoogle Scholar
  3. 3.
    Batson R, Keeling BH, Diaz LZ. Incontinentia pigmenti. J Pediatr. 2016;176:218–218.e1.  https://doi.org/10.1016/j.jpeds.2016.05.081.CrossRefPubMedGoogle Scholar
  4. 4.
    Rashidghamat E, Hsu CK, Nanda A, Liu L, Al-Ajmi H, McGrath JA. Incontinentia pigmenti in a father and daughter. Br J Dermatol. 2016;175(5):1059–60.  https://doi.org/10.1111/bjd.14615.CrossRefPubMedGoogle Scholar
  5. 5.
    McGrath JA, Ishida-Yamamoto A, Tidman MJ, Heagerty AH, Schofield OM, Eady RA. Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review. Br J Dermatol. 1992;126(5):421–30.CrossRefPubMedGoogle Scholar
  6. 6.
    Kim EN, Harris AG, Bingham LJ, Yan W, Su JC, Murrell DF. A review of 52 pedigrees with epidermolysis bullosa simplex identifying ten novel mutations in KRT5 and KRT14 in Australia. Acta Derm Venereol. 2017;97(9):1114–9.  https://doi.org/10.2340/00015555-2715.CrossRefPubMedGoogle Scholar
  7. 7.
    Siprashvili Z, Nguyen NT, Gorell ES, Loutit K, Khuu P, Furukawa LK, Lorenz HP, Leung TH, Keene DR, Rieger KE, Khavari P, Lane AT, Tang JY, Marinkovich MP. Safety and wound outcomes following genetically corrected autologous epidermal grafts in patients with recessive dystrophic epidermolysis bullosa. JAMA. 2016;316(17):1808–17.  https://doi.org/10.1001/jama.2016.15588.CrossRefPubMedGoogle Scholar
  8. 8.
    Hayashi M, Kawaguchi M, Hozumi Y, Nakano H, Sawamura D, Suzuki T. Dystrophic epidermolysis bullosa pruriginosa of elderly onset. J Dermatol. 2011;38(2):173–8.  https://doi.org/10.1111/j.1346-8138.2010.00953.x.CrossRefPubMedGoogle Scholar
  9. 9.
    Fortuna G, Di Lorenzo M, Cepeda-Valdes R, Garcia-Garcia C, Salas-Alanis JC. The largest family of the Americas with dominant dystrophic epidermolysis bullosa pruriginosa: a 18-year longitudinal genotype-phenotype study. J Dermatol Sci. 2013;71(3):217–21.  https://doi.org/10.1016/j.jdermsci.2013.04.025.CrossRefPubMedGoogle Scholar
  10. 10.
    Hattori M, Shimizu A, Oikawa D, Kamei K, Kaira K, Ishida-Yamamoto A, Nakano H, Sawamura D, Tokunaga F, Ishikawa O. ER stress in the pathogenesis of pretibial dystrophic epidermolysis bullosa. Br J Dermatol. 2017;177(4):e92–3.  https://doi.org/10.1111/bjd.15342.CrossRefPubMedGoogle Scholar
  11. 11.
    Soriano L, Farina C, Manzarbeitia F, Requena L. Pretibial epidermolysis bullosa. Int J Dermatol. 1999;38(7):536–8.CrossRefPubMedGoogle Scholar
  12. 12.
    Gassia V, Bazex J, Ortonne JP. Pretibial epidermolysis bullosa. J Am Acad Dermatol. 1991;24(4):663–4.CrossRefPubMedGoogle Scholar
  13. 13.
    Engin B, Kutlubay Z, Celik U, Serdaroglu S, Tuzun Y. Hailey-Hailey disease: a fold (intertriginous) dermatosis. Clin Dermatol. 2015;33(4):452–5.  https://doi.org/10.1016/j.clindermatol.2015.04.006.CrossRefPubMedGoogle Scholar
  14. 14.
    Chiaravalloti A, Payette M. Hailey-Hailey disease and review of management. J Drugs Dermatol. 2014;13(10):1254–7.PubMedGoogle Scholar
  15. 15.
    Nishizawa A, Toyomaki Y, Nakano A, Takeuchi S, Matsuzaki Y, Takeda H, Kaneko T, Mitsuhashi Y, Nakano H. A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens. Br J Dermatol. 2007;156(5):1042–4.  https://doi.org/10.1111/j.1365-2133.2007.07832.x.CrossRefPubMedGoogle Scholar
  16. 16.
    Thappa DM, Jeevankumar B. Ichthyosis bullosa of Siemens. Indian Pediatr. 2003;40(3):265–6.PubMedGoogle Scholar
  17. 17.
    Traupe H, Kolde G, Hamm H, Happle R. Ichthyosis bullosa of Siemens: a unique type of epidermolytic hyperkeratosis. J Am Acad Dermatol. 1986;14(6):1000–5.CrossRefPubMedGoogle Scholar
  18. 18.
    Bogenrieder T, Landthaler M, Stolz W. Bullous congenital ichthyosiform erythroderma: safe and effective topical treatment with calcipotriol ointment in a child. Acta Derm Venereol. 2003;83(1):52–4.CrossRefPubMedGoogle Scholar
  19. 19.
    Betlloch I, Lucas Costa A, Mataix J, Perez-Crespo M, Ballester I. Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. Pediatr Dermatol. 2009;26(4):489–91.  https://doi.org/10.1111/j.1525-1470.2009.00969.x.CrossRefPubMedGoogle Scholar
  20. 20.
    Foo SH, Terron-Kwiatkowski A, Baty D, Browne F. Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10. Clin Exp Dermatol. 2017;42(5):543–4.  https://doi.org/10.1111/ced.13097.CrossRefPubMedGoogle Scholar
  21. 21.
    Theiler M, Mann C, Weibel L. Self-healing collodion baby. J Pediatr. 2010;157(1):169–169.e1.  https://doi.org/10.1016/j.jpeds.2010.01.031.CrossRefPubMedGoogle Scholar
  22. 22.
    Nguyen MA, Gelman A, Norton SA. Practical events in the management of a collodion baby. JAMA Dermatol. 2015;151(9):1031–2.  https://doi.org/10.1001/jamadermatol.2015.0694.CrossRefPubMedGoogle Scholar
  23. 23.
    Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK. Late-onset Rothmund-Thomson syndrome. Int J Dermatol. 2007;46(5):492–3.  https://doi.org/10.1111/j.1365-4632.2007.03248.x.CrossRefPubMedGoogle Scholar
  24. 24.
    Stinco G, Governatori G, Mattighello P, Patrone P. Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. J Dermatol. 2008;35(3):154–61.  https://doi.org/10.1111/j.1346-8138.2008.00436.x.CrossRefPubMedGoogle Scholar
  25. 25.
    Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet J Rare Dis. 2010;5:2.  https://doi.org/10.1186/1750-1172-5-2.CrossRefPubMedPubMedCentralGoogle Scholar
  26. 26.
    Neilson DE, Brunger JW, Heeger S, Bamshad M, Robin NH. Mixed clefting type in Rapp-Hodgkin syndrome. Am J Med Genet. 2002;108(4):281–4.CrossRefPubMedGoogle Scholar
  27. 27.
    Walpole IR, Goldblatt J. Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome. Clin Genet. 1991;39(2):114–20.CrossRefPubMedGoogle Scholar
  28. 28.
    Knaudt B, Volz T, Krug M, Burgdorf W, Rocken M, Berneburg M. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-syndrome. Eur J Dermatol. 2012;22(5):605–13.  https://doi.org/10.1684/ejd.2012.1787.CrossRefPubMedGoogle Scholar
  29. 29.
    Mary L, Scheidecker S, Kohler M, Lombardi MP, Delezoide AL, Auberger E, Triau S, Colin E, Gerard M, Grzeschik KH, Dollfus H, Antal MC. Prenatal diagnosis of focal dermal hypoplasia: report of three fetuses and review of the literature. Am J Med Genet A. 2017;173(2):479–86.  https://doi.org/10.1002/ajmg.a.37974.CrossRefPubMedGoogle Scholar
  30. 30.
    Gisseman JD, Herce HH. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): a case series of 18 patients. Am J Med Genet C Semin Med Genet. 2016;172C(1):59–63.  https://doi.org/10.1002/ajmg.c.31480.CrossRefPubMedGoogle Scholar
  31. 31.
    Motil KJ, Fete M, Fete TJ. Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome). Am J Med Genet C Semin Med Genet. 2016;172C(1):29–33.  https://doi.org/10.1002/ajmg.c.31468.CrossRefPubMedGoogle Scholar
  32. 32.
    Wang L, Jin X, Zhao X, Liu D, Hu T, Li W, Jiang L, Dan H, Zeng X, Chen Q. Focal dermal hypoplasia: updates. Oral Dis. 2014;20(1):17–24.  https://doi.org/10.1111/odi.12083.CrossRefPubMedGoogle Scholar
  33. 33.
    Chiaverini C, Charlesworth A, Fernandez A, Barbarot S, Bessis D, Bodemer C, Bursztejn AC, Cobo AM, Del Rio M, D'Incan M, Labreze C, Langlet C, Mazereeuw J, Miquel J, Vabres P, Meneguzzi G, Lacour JP. Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study. Br J Dermatol. 2014;170(4):901–6.  https://doi.org/10.1111/bjd.12741.CrossRefPubMedGoogle Scholar
  34. 34.
    Browning JC. Aplasia cutis congenita: approach to evaluation and management. Dermatol Ther. 2013;26(6):439–44.  https://doi.org/10.1111/dth.12106.CrossRefPubMedGoogle Scholar
  35. 35.
    Uzuner C, Seeho SK, Smith CJ. Aplasia cutis congenita with foetus papyraceus: case report and review of the literature. J Obstet Gynaecol. 2017;37(6):811–2.  https://doi.org/10.1080/01443615.2017.1286305.CrossRefPubMedGoogle Scholar
  36. 36.
    Zhu WY, Wu JH. Congenital localized absence of skin associated with dystrophic epidermolysis bullosa. Pediatr Dermatol. 1991;8(2):176–7.CrossRefPubMedGoogle Scholar
  37. 37.
    Mialou V, Leblanc T, Peffault de Latour R, Dalle JH, Socie G. Dyskeratosis congenita: an update. Arch Pediatr. 2013;20(3):299–306.  https://doi.org/10.1016/j.arcped.2012.12.003.CrossRefPubMedGoogle Scholar
  38. 38.
    Roth A, Baerlocher GM. Dyskeratosis congenita. Br J Haematol. 2008;141(4):412.  https://doi.org/10.1111/j.1365-2141.2008.07052.x.CrossRefPubMedGoogle Scholar
  39. 39.
    Mori N, Makino T, Mizawa M, Kagoyama K, Kanegane H, Sakaguchi H, Miyazono T, Kojima S, Shimizu T. Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein. Eur J Dermatol. 2015;25(1):75–6.  https://doi.org/10.1684/ejd.2014.2454.CrossRefPubMedGoogle Scholar
  40. 40.
    Oguz ID, Gonul M, Kulcu Cakmak S, Gul U. Klippel-Trenaunay syndrome with rudimentary polydactyly. Int J Dermatol. 2015;54(4):465–7.  https://doi.org/10.1111/ijd.12032.CrossRefPubMedGoogle Scholar
  41. 41.
    Chung J, Nam IW, Ahn SK, Lee SH, Kim JG, Sung YO. Rudimentary polydactyly. J Dermatol. 1994;21(1):54–5.CrossRefPubMedGoogle Scholar
  42. 42.
    Janjua SA, Iftikhar N, Pastar Z, Hosler GA. Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis. Am J Clin Dermatol. 2008;9(2):137–40.CrossRefPubMedGoogle Scholar
  43. 43.
    Doche I, Hordinsky M, Wilcox GL, Valente NS, Romiti R. Substance P in keratosis follicularis spinulosa decalvans. JAAD Case Rep. 2015;1(6):327–8.  https://doi.org/10.1016/j.jdcr.2015.08.001.CrossRefPubMedPubMedCentralGoogle Scholar
  44. 44.
    Castori M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B. Pachydermoperiostosis: an update. Clin Genet. 2005;68(6):477–86.  https://doi.org/10.1111/j.1399-0004.2005.00533.x.CrossRefPubMedGoogle Scholar
  45. 45.
    Kudligi C, Bhagwat PV, Thirunavukkarasu A, Tophakhane RS. Incomplete pachydermoperiostosis. Indian J Dermatol Venereol Leprol. 2010;76(3):307.  https://doi.org/10.4103/0378-6323.62990.CrossRefPubMedGoogle Scholar
  46. 46.
    Abdool-Gafoor B. The many symptoms of pachydermoperiostosis. S Afr Med J. 2010;100(4):215.CrossRefPubMedGoogle Scholar
  47. 47.
    Webb S. Xeroderma pigmentosum. BMJ. 2008;336(7641):444–6.  https://doi.org/10.1136/bmj.39485.698356.AD.CrossRefPubMedPubMedCentralGoogle Scholar
  48. 48.
    Norgauer J, Idzko M, Panther E, Hellstern O, Herouy Y. Xeroderma pigmentosum. Eur J Dermatol. 2003;13(1):4–9.PubMedGoogle Scholar
  49. 49.
    Tofuku Y, Nobeyama Y, Kamide R, Moriwaki S, Nakagawa H. Xeroderma pigmentosum complementation group F: report of a case and review of Japanese patients. J Dermatol. 2015;42(9):897–9.  https://doi.org/10.1111/1346-8138.12942.CrossRefPubMedGoogle Scholar
  50. 50.
    Boente Mdel C, Bazan C, Montanari D. Cutis tricolor parvimaculata in two patients with ring chromosome 15 syndrome. Pediatr Dermatol. 2011;28(6):670–3.  https://doi.org/10.1111/j.1525-1470.2011.01470.x.CrossRefPubMedGoogle Scholar
  51. 51.
    Selim MA, Markert ML, Burchette JL, Herman CM, Turner JW. The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study. J Cutan Pathol. 2008;35(4):380–5.  https://doi.org/10.1111/j.1600-0560.2007.00816.x.CrossRefPubMedGoogle Scholar
  52. 52.
    Lo Schiavo A, Caccavale S, Alfano R, Romano F, Ruocco E. Pachyonychia congenita type 2: an unusual presentation. Am J Dermatopathol. 2013;35(5):619–20.  https://doi.org/10.1097/DAD.0b013e3182775f72.CrossRefPubMedGoogle Scholar
  53. 53.
    Cao YA, Hickerson RP, Seegmiller BL, Grapov D, Gross MM, Bessette MR, Phinney BS, Flores MA, Speaker TJ, Vermeulen A, Bravo AA, Bruckner AL, Milstone LM, Schwartz ME, Rice RH, Kaspar RL. Gene expression profiling in pachyonychia congenita skin. J Dermatol Sci. 2015;77(3):156–65.  https://doi.org/10.1016/j.jdermsci.2015.01.001.CrossRefPubMedPubMedCentralGoogle Scholar
  54. 54.
    Scholz IM, Helmbold P. Pachyonychia congenita type 2. J Dtsch Dermatol Ges. 2011;9(2):144–5.  https://doi.org/10.1111/j.1610-0387.2010.07537.x.PubMedGoogle Scholar
  55. 55.
    Kosem R, Debeljak M, Repic Lampret B, Kansky A, Battelino T, Trebusak Podkrajsek K. Cathepsin C gene 5′-untranslated region mutation in papillon-lefevre syndrome. Dermatology. 2012;225(3):193–203.  https://doi.org/10.1159/000342509.CrossRefPubMedGoogle Scholar
  56. 56.
    Bullon P, Morillo JM, Thakker N, Veeramachaneni R, Quiles JL, Ramirez-Tortosa MC, Jaramillo R, Battino M. Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lefevre syndrome families with identification of a new mutation. J Eur Acad Dermatol Venereol. 2014;28(8):1049–56.  https://doi.org/10.1111/jdv.12265.CrossRefPubMedGoogle Scholar
  57. 57.
    Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD, O’Toole EA, Schwartz ME, McLean WH, Smith FJ. Expanding the phenotypic spectrum of Olmsted syndrome. J Invest Dermatol. 2015;135(11):2879–83.  https://doi.org/10.1038/jid.2015.217.CrossRefPubMedPubMedCentralGoogle Scholar
  58. 58.
    Vincent A, Brimmer DJ, Whipple MO, Jones JF, Boneva R, Lahr BD, Maloney E, St Sauver JL, Reeves WC. Prevalence, incidence, and classification of chronic fatigue syndrome in Olmsted County, Minnesota, as estimated using the Rochester Epidemiology Project. Mayo Clin Proc. 2012;87(12):1145–52.  https://doi.org/10.1016/j.mayocp.2012.08.015.CrossRefPubMedPubMedCentralGoogle Scholar
  59. 59.
    Duchatelet S, Hovnanian A. Olmsted syndrome: clinical, molecular and therapeutic aspects. Orphanet J Rare Dis. 2015;10:33.  https://doi.org/10.1186/s13023-015-0246-5.CrossRefPubMedPubMedCentralGoogle Scholar
  60. 60.
    Lo Sicco K, Sadeghpour M, Ferris L. Nail-patella syndrome. J Drugs Dermatol. 2015;14(1):85–6.PubMedGoogle Scholar
  61. 61.
    Figueroa-Silva O, Vicente A, Agudo A, Baliu-Pique C, Gomez-Armayones S, Aldunce-Soto MJ, Inarejos Clemente EJ, Navallas Irujo M, Gutierrez de la Iglesia D, Gonzalez-Ensenat MA. Nail-patella syndrome: report of 11 pediatric cases. J Eur Acad Dermatol Venereol. 2016;30(9):1614–7.  https://doi.org/10.1111/jdv.13683.CrossRefPubMedGoogle Scholar
  62. 62.
    Kaku Y, Tanizaki H, Tanioka M, Sakabe J, Miyagawa-Hayashino A, Tokura Y, Miyachi Y, Kabashima K. Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome. Br J Dermatol. 2012;166(1):222–4.  https://doi.org/10.1111/j.1365-2133.2011.10521.x.CrossRefPubMedGoogle Scholar
  63. 63.
    Montgomery JR, White TW, Martin BL, Turner ML, Holland SM. A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. J Am Acad Dermatol. 2004;51(3):377–82.  https://doi.org/10.1016/j.jaad.2003.12.042.CrossRefPubMedGoogle Scholar
  64. 64.
    Liu J, Fang S, Ding Q, Wang Y, Ye T, Zhu H, Zhang X, Li B, Xu Y, Li Z. Mutations of connexin 26 (GJB2) gene in a Chinese keratitis-ichthyosis-deafness syndrome patient with squamous cell carcinoma. J Dermatol. 2016;43(1):104–6.  https://doi.org/10.1111/1346-8138.13145.CrossRefPubMedGoogle Scholar
  65. 65.
    Kogut M, Salz M, Hadaschik EN, Kohlhase J, Hartmann M. New mutation leading to the full variety of typical features of the Netherton syndrome. J Dtsch Dermatol Ges. 2015;13(7):691–3.  https://doi.org/10.1111/ddg.12453.CrossRefPubMedGoogle Scholar
  66. 66.
    Rakowska A, Kowalska-Oledzka E, Slowinska M, Rosinska D, Rudnicka L. Hair shaft videodermoscopy in netherton syndrome. Pediatr Dermatol. 2009;26(3):320–2.  https://doi.org/10.1111/j.1525-1470.2008.00778.x.CrossRefPubMedGoogle Scholar
  67. 67.
    Jian-Bing W, Cheng-Rang L, Yi-Ping M, Nan S, Hui L, Lin L. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. Cutis. 2016;97(2):E10–3.PubMedGoogle Scholar
  68. 68.
    Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J. Bloom syndrome. Int J Dermatol. 2014;53(7):798–802.  https://doi.org/10.1111/ijd.12408.CrossRefPubMedGoogle Scholar
  69. 69.
    Gentile M, Fiorente P, Buonadonna AL, Macina F, Cariola F. A novel mutation in exon 7 in a family with mild tricho-rhino-phalangeal syndrome type I. Clin Genet. 2003;63(2):166–7.CrossRefPubMedGoogle Scholar
  70. 70.
    Parizel PM, Dumon J, Vossen P, Rigaux A, De Schepper AM. The tricho-rhino-phalangeal syndrome revisited. Eur J Radiol. 1987;7(2):154–6.PubMedGoogle Scholar
  71. 71.
    Fujisawa T, Fukao T, Shimomura Y, Seishima M. A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1. J Dermatol. 2014;41(6):514–7.  https://doi.org/10.1111/1346-8138.12511.CrossRefPubMedGoogle Scholar
  72. 72.
    Cohen MM Jr. Proteus syndrome review: molecular, clinical, and pathologic features. Clin Genet. 2014;85(2):111–9.  https://doi.org/10.1111/cge.12266.CrossRefPubMedGoogle Scholar
  73. 73.
    Beachkofsky TM, Sapp JC, Biesecker LG, Darling TN. Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome. J Am Acad Dermatol. 2010;63(5):799–804.  https://doi.org/10.1016/j.jaad.2009.12.012.CrossRefPubMedPubMedCentralGoogle Scholar
  74. 74.
    Helm TN, Wirth PB, Helm KF. Congenital fascial dystrophy: the stiff skin syndrome. Cutis. 1997;60(3):153–4.PubMedGoogle Scholar
  75. 75.
    Geng S, Lei X, Toyohara JP, Zhan P, Wang J, Tan S. Stiff skin syndrome. J Eur Acad Dermatol Venereol. 2006;20(6):729–32.  https://doi.org/10.1111/j.1468-3083.2006.01619.x.CrossRefPubMedGoogle Scholar
  76. 76.
    van Steensel MA, Jaspers NG, Steijlen PM. A case of Rombo syndrome. Br J Dermatol. 2001;144(6):1215–8.CrossRefPubMedGoogle Scholar
  77. 77.
    Ashinoff R, Jacobson M, Belsito DV. Rombo syndrome: a second case report and review. J Am Acad Dermatol. 1993;28(6):1011–4.CrossRefPubMedGoogle Scholar
  78. 78.
    Bogart MM, Arnold HE, Greer KE. Prune-belly syndrome in two children and review of the literature. Pediatr Dermatol. 2006;23(4):342–5.  https://doi.org/10.1111/j.1525-1470.2006.00265.x.CrossRefPubMedGoogle Scholar
  79. 79.
    Heymann WR. Infantile digital fibromatosis. J Am Acad Dermatol. 2008;59(1):122–3.  https://doi.org/10.1016/j.jaad.2007.11.025.CrossRefPubMedGoogle Scholar
  80. 80.
    Braun SA, Helbig D. Infantile digital fibromatosis: a rare myofibrocytic tumor with characteristic histopathology. J Dtsch Dermatol Ges. 2014;12(12):1141–2.  https://doi.org/10.1111/ddg.12450.CrossRefPubMedGoogle Scholar
  81. 81.
    Zhu WY, Xia MY, Huang YF, Leonardi C, Penneys NS. Infantile digital fibromatosis: ultrastructural human papillomavirus and herpes simplex virus DNA observation. Pediatr Dermatol. 1991;8(2):137–9.CrossRefPubMedGoogle Scholar
  82. 82.
    Cam B, Kurkcu M, Ozturan S, Haytac C, Uguz A, Ogden G. Juvenile hyaline fibromatosis: a case report follow-up after 3 years and a review of the literature. Int J Dermatol. 2015;54(2):217–21.  https://doi.org/10.1111/ijd.12033.CrossRefPubMedGoogle Scholar
  83. 83.
    Nofal A, Sanad M, Assaf M, Nofal E, Nassar A, Almokadem S, Attwa E, Elmosalamy K. Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system. J Am Acad Dermatol. 2009;61(4):695–700.  https://doi.org/10.1016/j.jaad.2009.01.039.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. and People's Military Medical Press 2018

Authors and Affiliations

  • Ru-Zhi Zhang
    • 1
  • Qiang Ju
    • 2
  • Ying Sun
    • 3
  • Li-Xin Zhai
    • 4
  • Jian-Fang Sun
    • 5
  • Shu-Qiong Huang
    • 6
  • Xiu-Kun Sun
    • 3
  • Jian-Kai Pan
    • 7
  • Yuan Lu
    • 8
  • Zhi-Yuan Yao
    • 9
  • Ai-Qin Wang
    • 10
  • Shu-Xiao Zhao
    • 11
  • Wen-Yuan Zhu
    • 12
  • Dong-Lai Ma
    • 13
  • Wen-Jun Liao
    • 14
  • Jun Li
    • 13
  • Liang Zhao
    • 15
  • Cheng Tan
    • 16
    Email author
  • Jin Hu
    • 17
  • Bin Xu
    • 18
  • Song Li
    • 3
  • Ji-Hong Gan
    • 19
  • Tao Wang
    • 13
  • Xiao-Hai Yuan
    • 20
  • Hong-wei Wang
    • 13
  • Liu-Qing Chen
    • 21
  • Liang Gao
    • 22
  • Mei Wu
    • 23
  • Zhi-Fang Zhai
    • 24
  • Yin Xiao
    • 25
  1. 1.Department of DermatologyThe Third Affiliated Hospital of Suzhou UniversityChangzhouChina
  2. 2.Department of DermatologyThe First People’s Hospital of XuzhouXuzhouChina
  3. 3.Department of DermatologyPeking University First HospitalBeijingChina
  4. 4.Department of DermatologyNanyang General HospitalNanyangChina
  5. 5.Institute of DermatologyChinese Academy of Medical SciencesNanjingChina
  6. 6.Department of DermatologyThe People’s Hospital of LeshanLeshanChina
  7. 7.Department of DermatologyShantou Dermatology HospitalShantouChina
  8. 8.Department of DermatologyThe Sixth People’s Hospital of ShenzhenShenzhenChina
  9. 9.Department of DermatologyChina–Japan Friendship HospitalBeijingChina
  10. 10.Department of DermatologyCentral Hospital of Zibo CityShandongChina
  11. 11.Department of DermatologyThe Third Hospital of Hebei Medical UniversityShijiazhuangChina
  12. 12.Department of DermatologyThe First Affiliated Hospital of Nanjing Medical UniversityNanjingChina
  13. 13.Department of Dermatology, Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina
  14. 14.Department of Dermatology, Xijing HospitalThe Fourth Military Medical UniversityXi’anChina
  15. 15.Institute of Dermatology, Chinese Academy of Medical SciencePeking Union Medical CollegeNanjingChina
  16. 16.Department of DermatologyAffiliated Hospital of Nanjing University of Chinese MedicineNanjingChina
  17. 17.Department of Dermatology, Affiliated Hospital of ChildrenCapital Institute of PediatricsBeijingChina
  18. 18.Department of DermatologyThird Affiliated Hospital of Soochow UniversityChangzhouChina
  19. 19.Department of DermatologyThe Institute of Dermatology and Control of ZhaotongYunnanChina
  20. 20.Department of DermatologyShanghai Skin Disease & STD HospitalShanghaiChina
  21. 21.Department of DermatologyWuhan First HospitalWuhanChina
  22. 22.Department of DermatologyRizhao Hospital of DermatologyRizhaoChina
  23. 23.Department of DermatologyShandong Provincial Institute of Dermatology and VenereologyJinanChina
  24. 24.Department of Dermatology, Southwest HospitalThe Third Military Medical UniversityChongqingChina
  25. 25.Department of PathologyTianjin Changzheng HospitalTianjinChina

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