title: Skin manifestation of methylmalonic acidemia: case report and review of the literature.
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.
authors: Pediatric Department, Shiraz University of Medical Sciences, Shiraz, Iran - Nasrinsa85@yahoo.com.
authors: H
authors: H
authors: Karamifar
authors: N
authors: N
authors: Shakibazad
authors: F
authors: F
authors: Saki
authors: N
authors: N
authors: Saki
authors: S
authors: S
authors: Kardeh
mesh_terms: D000136:Acid-Base Equilibrium; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D001768:Blister / Q000209:etiology*; D002613:Cheilitis / Q000209:etiology*; D002675:Child, Preschool; D003241:Consanguinity; D019557:Dermatitis, Perioral / Q000209:etiology*; D004890:Erythema / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D053609:Lethargy / Q000209:etiology; D008297:Male; D014805:Vitamin B 12 / Q000627:therapeutic use
chemical_list: D014805:Vitamin B 12