Sidwell Rachel U, Brueton Louise A, Grabczynska Sophie A, Francis Nick, Staughton Robert C D
Department of Dermatology (Hammersmith Hospitals Trust), Chelsea and Westminster Hospital, 369 Fulham Road, London SW10 9NH, UK.
J Am Acad Dermatol. 2004 Feb;50(2 Suppl):S53-6. doi: 10.1016/s0190-9622(03)02466-6.
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.
温彻斯特综合征是一种罕见的遗传性疾病，属于遗传性骨质溶解症，这类疾病的特征是受累骨骼的破坏和吸收，进而导致骨骼畸形和功能障碍。该综合征的特点是腕骨和跗骨溶解，并伴有全身性骨质疏松、进行性关节挛缩、身材矮小、周边角膜混浊以及面部特征粗糙，不过临床特征存在变异性。迄今为止，也有关于皮肤特征表型异质性的报道，表现为弥漫性增厚的皮革样皮肤、多毛症、呈环状或线状分布的色素沉着过度、多毛的皮革样皮肤斑块、广泛的痤疮、皮下结节以及牙龈肥大。我们描述了一名患有温彻斯特综合征的女性在二十多岁时出现的广泛、进行性、多层、对称性皮肤束带症。
