Cutaneous Manifestations of Methylmalonic and Propionic Acidemia: A Description Based on 38 Cases

In a study conducted over the last 10 years at the Hôpital Necker-Enfants Malades, 38 children with methylmalonic and propionic acidaemias were examined, and 13 of them exhibited cutaneous manifestations such as acute superficial scalded skin, superficial desquamation, bilateral and periorificial dermatitis, psoriasiform eruptions, and alopecia. These skin conditions appeared to be consistent, with scalded skin and desquamation occurring after metabolic decompensation, and chronic bilateral and periorificial dermatitis being more persistent. The affected children all had severe forms of the diseases with no residual enzyme activity and were on strict protein-restricted diets. The study suggests that these cutaneous manifestations could be part of a multideficiency syndrome or directly related to the enzyme deficiency, and proposes that methylmalonic and propionic acidaemias be considered aminoacidopathies with cutaneous manifestations.