Acrogeria of the Gottron type in a mother and son.
We report a familial case of acrogeria in a mother and son, with characteristic cutaneous involvement and no clinical signs of vascular Ehlers-Danlos syndrome (former EDS type IV) in spite of some tendency to bruising. The biochemical and molecular studies did not disclose any abnormality of collagen type III, which favours the diagnosis of acrogeria. It appears that recognition of acrogeria as an entity is of clinical significance since these cases are not associated with systemic involvement, and specifically with rupture of vessels and internal organs, occasionnally occurring in EDS.
Blaszczyk
M
M
Department of Dermatology, Warsaw School of Medicine, Warsaw, Poland.
Depaepe
A
A
Nuytinck
L
L
Glinska-Ferenz
M
M
Jablonska
S
S
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D003094:Collagen / Q000235:genetics; D003483:Cutis Laxa / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000473:pathology*; D014898:Werner Syndrome / Q000235:genetics* / Q000473:pathology
D003094:Collagen