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Hypercalciuria in a Child with Acral Peeling Skin Syndrome: A Case Report
Daiva Gorczyca
; 3rd Department and Clinic of Paediatrics, Immunology and Rheumatology of Developmental Age, Wroclaw Medical University
Jolanta Węgłowska
; Department of Dermatology, Regional Specialist Hospital, Wroclaw
Anna Prescha
; Department of Food Science and Dietetics, Wroclaw Medical University
Zdzisław Woźniak
; Department of Pathomorphology, Wroclaw Medical University
Dominika Nesteruk
; Department of Medical Genetics, Institute of Mother and Child, Warsaw
Katarzyna Wertheim-Tysarowska
; Department of Medical Genetics, Institute of Mother and Child, Warsaw
Robert Śmigiel
; Department of Social Pediatrics, Wroclaw Medical University
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.
Keywords
acral peeling skin syndrome; children; hypercalciuria
Hrčak ID:
138772
URI
Publication date:
8.5.2015.
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