PMID: 9420542Jan 8, 1998Paper

Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations

Archives of Dermatology
R HowardS Packman

Abstract

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. 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. 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 long-standing nutritional restrictions or deficiency.

Citations

Jul 13, 2011·Journal of Inherited Metabolic Disease·Nuria Carrillo-Carrasco, Charles P Venditti
Feb 15, 2001·Clinics in Dermatology·V N Sehgal, S Jain
Nov 21, 2000·Pediatric Dermatology·G L DarmstadtV A Ziboh
Apr 25, 2002·Journal of Pediatric Hematology/oncology·Terry KindSteven A Kane
Dec 4, 2009·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·I Vitoria Miñana, J Dalmau Serra
Oct 14, 2008·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Christina GerthAlex V Levin
Aug 1, 2012·American Journal of Medical Genetics. Part a·Ellen CrushellWilliam Reardon
Nov 14, 2006·Journal of the American Academy of Dermatology·Daniel ZedekPamela Groben
May 23, 2006·Molecular Genetics and Metabolism·Chantal F MorelDavid S Rosenblatt

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