the acral peeling skin syndrome ( apss ) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at stratum granulosum and stratum corneum level . as the body of literature is growing , it becomes apparent that the condition is determined by mutations in the tgm5 gene encoding transglutaminase 5 or in the csta gene encoding cystatin a . moreover , it was reported that in children , apss manifests clinically with blisters and erosions on the palms and soles and is not limited to the dorsal aspect of the hands and feet . it was suggested that the clinical presentation of apss might be confusing and strongly resemble epidermolysis bullosa simplex ( ebs ) making the differential diagnosis difficult . 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 . 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 . 1 , fig . 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.m1 t 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.m1 t and the mother is a heterozygous carrier of the mutation c.337g > t , p.g113c ( fig . the 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 . pss , which was first described in 1921 , is a rare autosomal recessive genodermatosis characterized by shedding of the cornified layer of the skin . originally , it was described as peeling of the skin limited to the dorsa of the hands and provoked by mechanical trauma and humidity . ultrastructural and light microscopic studies in both forms of the disorder show the same level of blistering in the epidermis at the stratum granulosum and stratum corneum junction . the molecular basis of apss was elucidated in 2005 by cassidy et al .   who localized the genetic defect on chromosome 15 ( at 15q15.2 ) . tgm5 is expressed in the epidermal granular cells where it cross - links a variety of structural proteins in the terminal differentiation of the epidermis to form the cornified cell envelope . recently , pavlovic et al .   reported a new apss pedigree in which they failed to disclose tgm5 gene mutations . originally , cystatin a was associated with another rare genodermatosis , exfoliative ichthyosis , and therefore the clinical overlap / distinction between these two entities remains to be established . ebs is clinically very similar to apss showing blisters and erosions on the palms and soles . although the blisters are also localized intraepidermally , they are located in the basal layer and usually occur after mechanical traumas . in most cases , mutations in the genes for keratin 5 and 14 are found . in conclusion , we present a case of genetically confirmed apss , which clinically resembles ebs . both mutations , c.337g > t , p.g113c and c.2t > c , p.m1 t have been published before in the literature in patients with apss [ 3 , 9 ] . we consider that apss is not so rare and that often apss cases are diagnosed as ebs cases , especially when no dna mutation analysis is performed . particularly in little babies , it is important not to underestimate the diagnosis of apss because of the different outcome of the two diseases . in older children and in the adult apss patients ,
the acral peeling skin syndrome ( apss ) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [ kiritsi et al . : 
 j invest dermatol 2010;130:17411746 ] . 
 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 . 
 clinical examination revealed erythematous erosions with peripheral desquamation and flaccid blisters . 
 dna mutation analysis detected two heterozygous tgm5 mutations : c.2t > c , p.m1 t in exon 1 and c.337g > t , p.g113c in exon 3 in keeping with the diagnosis of apss . 
 the clinical presentation of apss alone might be confusing and strongly resemble epidermolysis bullosa simplex making the differential diagnosis difficult .