CUTANEOUS MANIFESTATIONS OF TYPE-I (CARBOHYDRATE-DEFICIENT GLYCOPROTEIN)

Background. Type I carbohydrate deficient glycoprotein (CDG) syndrome is an inborn hereditary error of metabolism with a broad clinical spec trum. It is characterized by partial N-glycan deficiency of glycoprote ins. Skin features may be part of this syndrome in infancy. Case repor t. A male infant failed to thrive, presenting psychomotor retardation, liver disease and multiple biological abnormalities. Very suggestive prominent skin manifestations were noted including abnormal subcutaneo us fat with lipoma-like pads on the lower back and buttocks, thickened orange-peel skin on the limbs, thinned proximal knuckles, inverted ni pples. Deficient serum transferrin sialylation and phosphomannomutase deficiency were identified confirming type I CDG syndrome. Discussion. Although inconstantly present, skin manifestations of type I CDG synd rome are very suggestive and may be the inaugural signs of the disease .