METHYLMALONIC ACIDEMIA, COBALAMIN-C TYPE, PRESENTING WITH CUTANEOUS MANIFESTATIONS

Background: Erosive dermatitis resembling the skin lesions of acroderm atitis enteropathica has been described in a number of aminoacidopathi es and organic acidemias. In some, the dermatitis is a manifestation o f untreated disease, while in others, including methylmalonic acidemia , skin lesions have been ascribed to nutritional deficiency due to the rapeutic amino acid restrictions. Observations: We report 2 cases of m ethylmalonic acidemia presenting with cutaneous manifestations in the perinatal period before restrictive nutritional interventions. The cut aneous involvement consisted of cheilitis and diffuse erythema with er osions and desquamation. Methylmalonic acidemia, cobalamin C type, was subsequently diagnosed in both cases. Conclusions: An erosive, desqua mating dermatitis with histopathologic characteristics resembling acro dermatitis enteropathica may be a presenting sign in cobalamin C methy lmalonic acidemia, even in the absence of longstanding nutritional res trictions or deficiency.