Literature DB >> 14726867

Progressive multilayered banded skin in Winchester syndrome.

Rachel U Sidwell1, Louise A Brueton, Sophie A Grabczynska, Nick Francis, Robert C D Staughton.   

Abstract

Winchester syndrome is a rare genetic disorder, one of the inherited osteolysis disorders which are a group of diseases characterized by destruction and resorption of affected bones with consequent skeletal deformities and functional impairment. The syndrome is characterized by dissolution of carpal and tarsal bones with generalized osteoporosis, progressive joint contractures, short stature, peripheral corneal opacities, and coarse facial features, though there is variability within the clinical features. Phenotypic heterogeneity of cutaneous features are also reported to date of diffusely thickened leathery skin, hypertrichosis, patches of hyperpigmented, hypertrichotic leathery skin in annular or linear distribution, widespread acne, subcutaneous nodules, and gingival hypertrophy. We describe widespread progressive multilayered symmetrical restrictive banding of the skin developing in a woman with Winchester syndrome during her mid-twenties.

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Year:  2004        PMID: 14726867     DOI: 10.1016/s0190-9622(03)02466-6

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  3 in total

1.  Winchester syndrome: the progression of radiological findings over a 23-year period.

Authors:  Radovan Vanatka; Cécile Rouzier; Jean Claude Lambert; Carole Leroux; Alain Coussement
Journal:  Skeletal Radiol       Date:  2010-09-24       Impact factor: 2.199

2.  The diagnosis and management of patients with idiopathic osteolysis.

Authors:  Ali Al Kaissi; Sabine Scholl-Buergi; Rainer Biedermann; Kathrin Maurer; Jochen G Hofstaetter; Klaus Klaushofer; Franz Grill
Journal:  Pediatr Rheumatol Online J       Date:  2011-10-13       Impact factor: 3.054

3.  Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

Authors:  Ivo J H M de Vos; Evelyn Yaqiong Tao; Sheena Li Ming Ong; Julian L Goggi; Thomas Scerri; Gabrielle R Wilson; Chernis Guai Mun Low; Arnette Shi Wei Wong; Dominic Grussu; Alexander P A Stegmann; Michel van Geel; Renske Janssen; David J Amor; Melanie Bahlo; Norris R Dunn; Thomas J Carney; Paul J Lockhart; Barry J Coull; Maurice A M van Steensel
Journal:  Hum Mol Genet       Date:  2018-08-15       Impact factor: 6.150

  3 in total

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