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CASE REPORTS
Giornale Italiano di Dermatologia e Venereologia 2015 December;150(6):741-4
Copyright © 2015 EDIZIONI MINERVA MEDICA
lingua: Inglese
Skin manifestation of methylmalonic acidemia: case report and review of the literature
Karamifar H. 1, Shakibazad N. 1, Saki F. 2, Saki N. 3, Kardeh S. 4 ✉
1 Pediatric Department, Shiraz University of Medical Sciences, Shiraz, Iran; 2 Endocrinology and Metabolism Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; 3 Molecular Dermatology Research Center, Dermatology Department, Shiraz University of Medical Sciences, Shiraz, Iran; 4 Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran
Skin manifestations, including scalded skin, desquamation, and chronic periorificial dermatitis, are rare clinical signs in patients with methylmalonic acidemia. This condition may be due to enzyme deficiency or multi-nutrient deficiency because of nutritional restriction. Bullous skin lesion is very rare in these patients and consequently, this type of skin lesion can be the presenting sign of methylmalonic acidemia.