A case of mosaicism in ectodermal dysplasia – skin fragility syndrome

Summary

Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene encoding pakophilin-1 (PKP1), which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case of a 2-year-old girl with unilateral superficial erosions, plantar keratoderma and nail dystrophy, all showing a Blaschko-linear arrangement. Mutation analysis of the PKP1 gene revealed a novel heterozygous mutation in exon 3 (c.638delT) in a heterozygous state in the patient's normal skin and blood, and in the father's blood, and in a homozygous state in patient's affected skin. Loss of heterozygosity for the PKP1 wild-type allele that occurred at an early developmental stage, probably due to mitotic recombination, led to a segmental manifestation of ED-SFS.

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