Skin manifestation of methylmalonic acidemia: case report and review of the literature
Karamifar, H.; Shakibazad, N.; Saki, F.; Saki, N.; Kardeh, S.
Giornale Italiano di Dermatologia e Venereologia Organo Ufficiale Societa Italiana di Dermatologia e Sifilografia 150(6): 741-744
2015
ISSN/ISBN: 0392-0488 PMID: 25058035 Document Number: 685408
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.