[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome].
BACKGROUND
Type I carbohydrate deficient glycoprotein (CDG) syndrome is an inborn hereditary error of metabolism with a broad clinical spectrum. It is characterized by partial N-glycan deficiency of glycoproteins. Skin features may be part of this syndrome in infancy.


METHODS
A male infant failed to thrive, presenting psychomotor retardation, liver disease and multiple biological abnormalities. Very suggestive prominent skin manifestations were noted including abnormal subcutaneous fat with lipoma-like pads on the lower back and buttocks, thickened orange-peel skin on the limbs, thinned proximal knuckles, inverted nipples. Deficient serum transferrin sialylation and phosphomannomutase deficiency were identified confirming type I CDG syndrome.


CONCLUSIONS
Although inconstantly present, skin manifestations of type I CDG syndrome are very suggestive and may be the inaugural signs of the disease.
Vabres
P
P
Service de Dermatologie, Hôpital Necker-Enfants Malades, Paris.
Sevin
C
C
Amoric
J C
JC
Odièvre
M H
MH
Saudubray
J M
JM
de Prost
Y
Y
D000213:Acyl Carrier Protein / Q000378:metabolism; D001706:Biopsy; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000378:metabolism; D003937:Diagnosis, Differential; D006031:Glycosylation; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D008297:Male; D010733:Phosphoglucomutase / Q000378:metabolism; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency; D012871:Skin Diseases / Q000175:diagnosis*
D000213:Acyl Carrier Protein; D017875:Phosphotransferases (Phosphomutases); D010733:Phosphoglucomutase; C052799:phosphomannomutase
Manifestations cutanées d'un déficit de la glycosylation des protéines, le CDG (carbohydrate deficient glycoprotein) syndrome de type I.