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肢端角化性弹性组织变性

Acrokeratoelastoidosis.

作者信息

Highet A S, Rook A, Anderson J R

出版信息

Br J Dermatol. 1982 Mar;106(3):337-44. doi: 10.1111/j.1365-2133.1982.tb01733.x.

DOI:10.1111/j.1365-2133.1982.tb01733.x
PMID:6175330
Abstract

A case of acrokeratoelastoidosis (AKE) is reported. A review of the literature has established that at least three clinicopathological entities have been reported under this term. Two of the entities show a combination of hyperkeratosis with fragmentation of dermal elastic tissue, which justifies the designation AKE. The first, for which the term familial AKE is perhaps appropriate, though many cases have been sporadic, begins in childhood or early adult life, and there is no evidence that trauma or light exposure are factors in its production. The second is a more variable clinical syndrome occurring in middle or late adult life, and both physical trauma and light exposure appear to be concerned in its induction. The third syndrome to be reported under the designation AKE shows no abnormality of elastic tissue and appears to be a separate entity.

摘要

报告了1例肢端角化性弹性组织病(AKE)。文献回顾表明,该术语下至少报道了三种临床病理实体。其中两种实体表现为角化过度与真皮弹性组织破碎并存,这为肢端角化性弹性组织病这一命名提供了依据。第一种,或许“家族性AKE”这一术语较为合适,尽管许多病例为散发性,发病于儿童期或成年早期,且没有证据表明创伤或光照是其发病因素。第二种是一种在成年中期或晚期出现的临床综合征,表现更为多样,物理创伤和光照似乎都与其诱发有关。在肢端角化性弹性组织病这一命名下报道的第三种综合征未显示弹性组织异常,似乎是一个独立的实体。

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Acrokeratoelastoidosis.肢端角化性弹性组织变性
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A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.CCDC91 基因中的一个突变会导致常染色体显性遗传性肢端角化弹性纤维瘤病。
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J Med Case Rep. 2014 May 8;8:143. doi: 10.1186/1752-1947-8-143.
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Pseudo-ainhum, angiodysplasia and focal acral hyperkeratosis.假性断肢症、血管发育异常和局限性肢端角化过度症。
J R Soc Med. 1985;78 Suppl 11(Suppl 11):13-5.