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一种伴有全身表现的X连锁网状色素沉着障碍:第二个家系报告

An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family.

作者信息

Adès L C, Rogers M, Sillence D O

机构信息

Dermatology Department, Children's Hospital, Camperdown, New South Wales, Australia.

出版信息

Pediatr Dermatol. 1993 Dec;10(4):344-51. doi: 10.1111/j.1525-1470.1993.tb00396.x.

DOI:10.1111/j.1525-1470.1993.tb00396.x
PMID:8302737
Abstract

Another family manifesting an X-linked, reticulate, pigmentary dermatosis, previously familial cutaneous amyloidosis, has been observed. The disorder is characterized in males in this family by onset in the first year of recurrent episodes of respiratory illness including pneumonia, a progressive reticulate pigmentation of the skin, hypohidrosis, and photophobia. The absence of amyloid deposits in the skin in both the mother and sons confirms that less emphasis should be given to the word "amyloidosis" in naming the disorder.

摘要

观察到另一个表现为X连锁、网状、色素沉着性皮肤病(以前称为家族性皮肤淀粉样变性)的家系。在这个家系中,该疾病在男性中的特征为在第一年发病,反复出现包括肺炎在内的呼吸道疾病、皮肤进行性网状色素沉着、少汗和畏光。母亲和儿子的皮肤中均无淀粉样蛋白沉积,这证实了在命名该疾病时应减少对“淀粉样变性”一词的强调。

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