Hamm H, Traupe H, Bröcker E B, Schubert H, Kolde G
Department of Dermatology, University of Würzburg, Germany.
Br J Dermatol. 1996 Mar;134(3):512-8.
We report a 24-year-old woman, her 6-year-old son and her 17-month-old daughter, who all suffer from a rare congenital genodermatosis first delineated by Huriez et al. in the 1960s. The clinical features of this autosomal dominant condition include scleroatrophy of the hands and feet, nail hypoplasia, mild palmoplantar keratoderma and hypohidrosis. Histological changes are non-specific, but immunohistological and ultrastructural examination in our index patient revealed an almost complete absence of epidermal Langerhans cells in the affected skin. This new finding may be linked to the cancer proneness of the scleroatrophic skin. In this family, the grandmother had died at the age of 37 years from metastatic squamous cell carcinoma which had arisen on the thenar eminence.
我们报告了一名24岁女性、她6岁的儿子和17个月大的女儿，他们都患有一种罕见的先天性遗传性皮肤病，该病最早由于里耶等人在20世纪60年代描述。这种常染色体显性疾病的临床特征包括手足硬化萎缩、指甲发育不全、轻度掌跖角化病和少汗症。组织学变化不具有特异性，但我们的索引患者的免疫组织学和超微结构检查显示，受累皮肤中几乎完全没有表皮朗格汉斯细胞。这一新发现可能与硬化萎缩性皮肤的癌症易感性有关。在这个家族中，祖母37岁时死于转移性鳞状细胞癌，该癌症发生在大鱼际隆起处。
