Type 2 segmental Darier disease

被引:0
作者
Happle, R
Itin, PH
Brun, AM
机构
[1] Univ Marburg, Dept Dermatol, D-35033 Marburg, Germany
[2] Univ Basel, Dept Dermatol, CH-4031 Basel, Switzerland
[3] Hosp Cent Ruiz & Paez, Dept Dermatol, Ciudad Bolivar, Venezuela
关键词
Darier disease; keratosis follicularis; autosomal dominant skin disorder; mosaicism; type 2 segmental manifestation; heterozygosity loss;
D O I
暂无
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
A 45-year-old man had bilateral disseminated involvement of Darier disease, and two of his sisters likewise had lesions suggesting this trait. Remarkably the propositus showed, in addition, a unilateral, systematized, segmental pattern of excessively pronounced Darier lesions. This unusual case can be taken as an example of type 2 segmental Darier disease. In contrast to the type 1 segmental manifestation that develops from a new mutation occurring in an otherwise healthy embryo, the type 2 segmental involvement would originate in a heterozygous embryo from postzygotic loss of the corresponding normal allele, resulting in a cell clone that is either homozygous or hemizygous for the mutation. This concept would explain why the segmental lesions were excessively pronounced and superimposed on the ordinary trait. Future studies may show whether the concept of type 2 segmental Darier disease can be confirmed at the molecular level.
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收藏
页码:449 / 451
页数:3
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