Literature DB >> 29765964

A Rare Syndrome Resembling Scleroderma: Huriez Syndrome.

Nil Su Çelik1, Şirin Yaşar1, Sema Aytekin1, Pembegül Güneş2.   

Abstract

Huriez syndrome, also referred to as "sclerotylosis," is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nails. The development of aggressive squamous cell carcinoma (SCC) arising in the scleroatrophic area is also a distinctive feature of the syndrome. Early diagnosis is important due to the early onset, mostly in the third to fourth decades of life, and aggressive progress of SCC, which occurs in around 15% of affected individuals. Our patient had palmoplantar keratoderma, scleroatrophy of the hands, and hypoplastic nails. Her mother and father had a second-degree blood relation. Two of her siblings had similar complaints and findings. She showed no sign of actinic keratosis or SCC, and was called for regular follow-ups. With this case, we want to emphasize that Huriez syndrome is a rare genodermatosis, mimicking scleroderma-like acrosclerosis, and early diagnosis is critical for recognizing and preventing the development of SCC.

Entities:  

Keywords:  Autosomal dominant inheritance; Keratoderma; Nail disorder; Scleroderma-like findings; Sclerosis; Squamous cell carcinoma

Year:  2017        PMID: 29765964      PMCID: PMC5939708          DOI: 10.1159/000479036

Source DB:  PubMed          Journal:  Skin Appendage Disord        ISSN: 2296-9160


  8 in total

1.  A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23.

Authors:  Y A Lee; H P Stevens; E Delaporte; U Wahn; A Reis
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

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Authors:  Khalid Al Aboud; Amor Khachemoune
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3.  A nonfamilial Japanese case of Huriez syndrome: p53 expression in squamous cell carcinoma.

Authors:  Eri Watanabe; Toshihiro Takai; Masamitsu Ichihashi; Masato Ueda
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5.  Huriez syndrome.

Authors:  Shanmuga C Sekar; C R Srinivas
Journal:  Indian J Dermatol Venereol Leprol       Date:  2008 Jul-Aug       Impact factor: 2.545

6.  An SRY-negative XX male with Huriez syndrome.

Authors:  P Vernole; A Terrinoni; B Didona; V De Laurenzi; P Rossi; G Melino; P Grimaldi
Journal:  Clin Genet       Date:  2000-01       Impact factor: 4.438

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8.  Trends of skin cancer in the Canton of Vaud, 1976-92.

Authors:  F Levi; S Franceschi; V C Te; L Randimbison; C La Vecchia
Journal:  Br J Cancer       Date:  1995-10       Impact factor: 7.640

  8 in total
  1 in total

Review 1.  Type I Interferon Induction in Cutaneous DNA Damage Syndromes.

Authors:  Benjamin Klein; Claudia Günther
Journal:  Front Immunol       Date:  2021-07-23       Impact factor: 7.561

  1 in total

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