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J Eur Acad Dermatol Venereol. 2016 May;30(5):847-51. doi: 10.1111/jdv.13153. Epub 2015 Apr 22.

Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease.

Author information

1
IDI-IRCCS, Biochemistry Laboratory, c/o Department of Experimental Medicine and Surgery, University of Rome "Tor Vergata", Rome, Italy.
2
1st Dermatological Division, IDI-IRCCS, Rome, Italy.
3
Toxicology Unit, Medical Research Council, Leicester University, Leicester, UK.

Abstract

BACKGROUND:

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).

OBJECTIVE:

In this paper we would clarify the genetic difference between the two patients, giving rise to the different phenotype.

METHODS:

Clinical evaluation, followed by histological and molecular analysis has been established for these patients.

RESULTS:

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.

PMID:
25904304
DOI:
10.1111/jdv.13153
[Indexed for MEDLINE]

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