Verloes A, Mulliez N, Gonzales M, Laloux F, Hermanns-Lê T, Piérard G E, Koulischer L
Centre for Human Genetics, Liège University, Belgium.
Am J Med Genet. 1992 Jun 1;43(3):539-47. doi: 10.1002/ajmg.1320430308.
Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consanguineous parents. Clinical findings include a tight, thin, translucent, taut skin, which tears spontaneously in flexion creases, arthrogryposis multiplex congenita (including the temporomandibular joint), enlarged fontanelles, typical face and dysplasia of clavicles and long bones. Histologic abnormalities include hyperplastic, abnormally keratinized epidermis, reduced tonofilaments, thin, compact dermis with hypoplasia of the elastic fibres, and abnormal subcutaneous fat. Fifteen previous cases are reviewed.
限制性皮病是一种罕见的致死性常染色体隐性综合征。我们报告了3例来自近亲父母的无血缘关系的受累死产婴儿。临床发现包括皮肤紧绷、菲薄、半透明、绷紧，在屈侧皱襞处可自发撕裂，先天性多发性关节挛缩（包括颞下颌关节）、囟门增大、典型面容以及锁骨和长骨发育异常。组织学异常包括表皮增生、角化异常、张力细丝减少、真皮薄而致密且弹性纤维发育不全以及皮下脂肪异常。对之前的15例病例进行了回顾。
