Skin manifestation of methylmalonic acidemia: case report and review of the literature.

H Karamifar, N Shakibazad, F Saki, N Saki, S Kardeh

Journal: Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia 2016;150(6):741-4

PMID: 25058035

Full Text on Minerva Medica View on PubMed

Abstract

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.

Address: Pediatric Department, Shiraz University of Medical Sciences, Shiraz, Iran - [email protected].

Link outs

Free resources

Medical:

Subscription / membership required

Full Text Sources:

http://www.minervamedica.it/index2.t?show=R23Y2015...

MeSH Terms: Acid-Base Equilibrium, Amino Acid Metabolism, Inborn Errors, Blister, Cheilitis, Child, Preschool, Consanguinity, Dermatitis, Perioral, Erythema, Female, Humans, Infant, Lethargy, Male, Vitamin B 12