Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy
Here, we report on a 10-month-old boy with a history of skin peeling limited to the hands and feet since 2 months of age. His mother noticed worsening of the condition with heat and humidity but not by mechanical trauma. The baby was born from a normal pregnancy and delivery and has non-consanguineous parents. The family history was negative. Clinical examination showed erythematous erosions with desquamation at the periphery on both palms and soles as well as a flaccid blister on the finger of the right hand (fig. , fig. ). The mycological examination of the palms and soles was negative. The baby's mother refused a skin biopsy from the edge of a fresh blister for histological examination. DNA mutation analysis was performed in the 10-month-old boy as well as in his mother and father. From the extracted DNA of the index case, the entire coding region and the flanking intronic regions of the TGM5 gene (Genbank NM_201631.3, NC_000015.9) were analyzed using the PCR followed by DNA sequencing as described []. In the parents, only the coding exons 1 and 3, and the flanking intronic regions were analysed. In the index patient, we detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3. The father is a heterozygous carrier of the mutation c.2T>C, p.M1T and the mother is a heterozygous carrier of the mutation c.337G>T, p.G113C (fig. ). No other mutations were disclosed in the analyzed regions.\nThe baby's parents have been advised to communicate with a human geneticist or a genetic counselor. They were informed about preventive measurements: avoid heat and humidity by using shoes made from breathing textile materials and leather as well as to use topical emollient application.