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CURRENT ISSUEGIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA

A Journal on Dermatology and Sexually Transmitted Diseases

Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,014

Frequency: Bi-Monthly

ISSN 0392-0488

Online ISSN 1827-1820

 

Giornale Italiano di Dermatologia e Venereologia 2015 December;150(6):741-4

    CASE REPORTS

Skin manifestation of methylmalonic acidemia: case report and review of the literature

Karamifar H. 1, Shakibazad N. 1, Saki F. 2, Saki N. 3, Kardeh S. 4

1 Pediatric Department, Shiraz University of Medical Sciences, Shiraz, Iran;
2 Endocrinology and Metabolism Research Center, Shiraz University of Medical Sciences, Shiraz, Iran;
3 Molecular Dermatology Research Center, Dermatology Department, Shiraz University of Medical Sciences, Shiraz, Iran;
4 Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran

Skin manifestations, including scalded skin, desquamation, and chronic periorificial dermatitis, are rare clinical signs in patients with methylmalonic acidemia. This condition may be due to enzyme deficiency or multi-nutrient deficiency because of nutritional restriction. Bullous skin lesion is very rare in these patients and consequently, this type of skin lesion can be the presenting sign of methylmalonic acidemia.

language: English


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