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G Ital Dermatol Venereol ; 150(6): 741-4, 2015 Dec.
Article in English | MEDLINE | ID: mdl-25058035

ABSTRACT

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.


Subject(s)
Amino Acid Metabolism, Inborn Errors/complications , Blister/etiology , Cheilitis/etiology , Dermatitis, Perioral/etiology , Erythema/etiology , Acid-Base Equilibrium , Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/drug therapy , Child, Preschool , Consanguinity , Female , Humans , Infant , Lethargy/etiology , Male , Vitamin B 12/therapeutic use
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