title: Hypercalciuria in a child with acral peeling skin syndrome: a case report.
abstract: We present a case of 3-year-old Caucasian boy who developed monthly cyclic attacks of skin peeling of the palms and soles over 1.5 years. The skin peeling was associated with hypercalciuria. No mutation was present in TGM5 and CSTA genes, but the typical clinical picture and the biopsy from flaccid blisters on the feet confirmed the acral peeling skin syndrome (APSS). The possible associations of rare genetic disorders and metabolic conditions in the course of APSS need to be investigated.
authors.affiliation: Daiva Gorczyca, MD, 3rd Department and Clinic of Paediatrics, Immunology and Rheumatology of Developmental Age, Wroclaw Medical University , ul. Koszarowa 5, 51-149, Wroclaw, Poland; daiva.gorczyca@umed.wroc.pl.
authors.forename: Daiva
authors.initials: D
authors.lastname: Gorczyca
authors.forename: Jolanta
authors.initials: J
authors.lastname: Węgłowska
authors.forename: Anna
authors.initials: A
authors.lastname: Prescha
authors.forename: Zdzisław
authors.initials: Z
authors.lastname: Woźniak
authors.forename: Dominika
authors.initials: D
authors.lastname: Nesteruk
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wertheim-Tysarowska
authors.forename: Robert
authors.initials: R
authors.lastname: Śmigiel
mesh_terms: D002675:Child, Preschool; D006801:Humans; D053565:Hypercalciuria / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D008297:Male; D012871:Skin Diseases / Q000151:congenital* / Q000209:etiology / Q000473:pathology / Q000628:therapy