Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations

Renée Howard, Ilona J. Frieden, Diane Crawford, Timothy McCalmont, Moise L. Levy, David S. Rosenblatt, Lawrence Sweetman, Stephen I. Goodman, Carol Ohnstad, Kimberly Hart, Marguerite Berrios, Seymour Packman

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


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 long-standing nutritional restrictions or deficiency.

Original languageEnglish (US)
Pages (from-to)1563-1566
Number of pages4
JournalArchives of Dermatology
Issue number12
StatePublished - Dec 1997
Externally publishedYes

ASJC Scopus subject areas

  • Dermatology


Dive into the research topics of 'Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations'. Together they form a unique fingerprint.

Cite this