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Methylmalonic Acidemia, Cobalamin C Type, Presenting With Cutaneous Manifestations
Renée Howard, MD;
Ilona J. Frieden, MD;
Diane Crawford, MS;
Timothy McCalmont, MD;
Moise L. Levy, MD;
David S. Rosenblatt, MD;
Lawrence Sweetman, PhD;
Stephen I. Goodman, MD;
Carol Ohnstad, RD;
Kimberly Hart, MS;
Marguerite Berrios, MD;
Seymour Packman, MD
Arch Dermatol. 1997;133(12):1563-1566.
Abstract
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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
Author Affiliations
From the Departments of Dermatology (Drs Howard and Frieden), Pediatrics (Drs Frieden, Berrios, and Packman and Mss Crawford, Ohnstad, and Hart), and Pathology (Dr McCalmont), University of California, San Francisco; Texas Children's Hospital, Houston (Dr Levy); the Departments of Medicine and Human Genetics, McGill University, Montreal, Quebec (Dr Rosenblatt); Children's Hospital of Los Angeles, Los Angeles, Calif (Dr Sweetman); University of Colorado School of Medicine, Denver (Dr Goodman).
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