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

language: English

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


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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.

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