Palombo R, Giannella E, Didona B, Annicchiarico-Petruzzelli M, Melino G, Terrinoni A
IDI-IRCCS, Biochemistry Laboratory, c/o Department of Experimental Medicine and Surgery, University of Rome "Tor Vergata", Rome, Italy.
1st Dermatological Division, IDI-IRCCS, Rome, Italy.
J Eur Acad Dermatol Venereol. 2016 May;30(5):847-51. doi: 10.1111/jdv.13153. Epub 2015 Apr 22.
Epidermolytic ichthyosis (BCIE, OMIM 113800), is an autosomal dominant disorder of the skin caused by mutations in keratin genes KRT1 and KRT10. We present two sporadic patients showing a mild diffuse ichthyosis with palmoplantar keratoderma. Interestingly, one of them shows a significant hyperkeratosis of palms and soles similar to those present in the Meleda disease (OMIM 248300).
In this paper we would clarify the genetic difference between the two patients, giving rise to the different phenotype.
Clinical evaluation, followed by histological and molecular analysis has been established for these patients.
We demonstrated the presence of a genetic cutaneous mosaicism. Both patients carry the KRT1 pI479T substitution, but in the palmoplantar areas of one of them, only the mutated allele is expressed (hemizygous). This leads to highlight a new type of cutaneous mosaic, the palmoplantar mosaicism.
表皮松解性鱼鳞病（BCIE，OMIM 113800）是一种常染色体显性遗传性皮肤病，由角蛋白基因KRT1和KRT10突变引起。我们报告了两名散发患者，表现为轻度弥漫性鱼鳞病伴掌跖角化病。有趣的是，其中一名患者的手掌和脚底出现明显的角化过度，类似于梅勒达病（OMIM 248300）。
本文旨在阐明两名患者产生不同表型的基因差异。
对这些患者进行了临床评估，随后进行了组织学和分子分析。
我们证实了存在遗传性皮肤嵌合体。两名患者均携带KRT1 pI479T替代突变，但在其中一名患者的掌跖部位，仅表达突变等位基因（半合子）。这凸显了一种新型的皮肤嵌合体，即掌跖嵌合体。
