限制性皮肤病：三例报告
Restrictive dermopathy: a report of three cases.
作者信息
Mok Q, Curley R, Tolmie J L, Marsden R A, Patton M A, Davies E G
机构信息
Department of Child Health, St. George's Hospital Medical School, London.
出版信息
J Med Genet. 1990 May;27(5):315-9. doi: 10.1136/jmg.27.5.315.
Abstract
We report three infants with a rare syndrome of restrictive dermopathy, in which rigidity of the skin at birth is associated with characteristic facial anomalies, generalised arthrogryposis, bony abnormalities, and lung hypoplasia. The skin has a distinctive pathology with compaction of the dermal collagen and fibrosis of the subcutaneous tissue. The inheritance is likely to be autosomal recessive and the condition appears to be fatal in the early neonatal period.
摘要
我们报告了三名患有罕见的限制性皮肤病综合征的婴儿，其出生时皮肤僵硬伴有特征性面部异常、全身性关节挛缩、骨骼异常和肺发育不全。皮肤具有独特的病理学表现，真皮胶原蛋白致密化和皮下组织纤维化。其遗传方式可能为常染色体隐性遗传，该病症在新生儿早期似乎是致命的。
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本文引用的文献
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Autosomal-recessive aplasia cutis congenita--report of two affected sibs.常染色体隐性遗传性先天性皮肤发育不全——两例患病同胞的报告。
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Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds.先天性挛缩、水肿、角化过度和宫内生长迟缓：哈特派和门诺派家族中的一种致命综合征。
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Restrictive dermopathy and report of another case.限制性皮肤病及另一病例报告。
Am J Med Genet. 1986 Aug;24(4):625-9. doi: 10.1002/ajmg.1320240407.
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Restrictive dermopathy.
Am J Med Genet. 1987 May;27(1):239-40. doi: 10.1002/ajmg.1320270131.
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Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy).三名患有致命性遗传疾病（限制性皮肤病）的新生儿出现表皮形态发生停滞。
J Invest Dermatol. 1987 Mar;88(3):330-9. doi: 10.1111/1523-1747.ep12466219.
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Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia.限制性皮肤病：一种新发现的常染色体隐性遗传性皮肤发育异常。
Am J Med Genet. 1986 Aug;24(4):631-48. doi: 10.1002/ajmg.1320240408.
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