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Methylmalonic Acidemia, Cobalamin C Type, Presenting With Cutaneous Manifestations

1997; American Medical Association; Volume: 133; Issue: 12 Linguagem: Inglês

10.1001/archderm.1997.03890480083012

1538-3652

Renée Howard,

Porphyrin Metabolism and Disorders

Background: Erosive dermatitis resembling the skin lesions of acrodermatitis enteropathica has been described in a number of aminoacidopathies and organic acidemias. In some, the dermatitis is a manifestation of untreated disease, while in others, including methylmalonic acidemia, skin lesions have been ascribed to nutritional deficiency due to therapeutic amino acid restrictions. Observations: We report 2 cases of methylmalonic acidemia presenting with cutaneous manifestations in the perinatal period before restrictive nutritional interventions. The cutaneous involvement consisted of cheilitis and diffuse erythema with erosions and desquamation. Methylmalonic acidemia, cobalamin C type, was subsequently diagnosed in both cases. Conclusions: An erosive, desquamating dermatitis with histopathologic characteristics resembling acrodermatitis enteropathica may be a presenting sign in cobalamin C methylmalonic acidemia, even in the absence of longstanding nutritional restrictions or deficiency. Arch Dermatol. 1997;133:1563-1566