[Cutis laxa syndrome. Clinical, histologic and ultrastructural study of a new variant].
Cutis laxa (generalized elastolysis) is a rare systemic disorder of connective tissue, whose elastic fibers appear fragmented and disorganized. The present study reports an undescribed form of cutis laxa in an infant male with loose and inelastic skin, osteoporosis, pulmonary emphysema and dislocation of the hip. The clinical features and the inheritance patterns of the various forms of cutis laxa are also discussed.
G
G
Pitzalis
M
M
Bonamico
P
P
Mariani
G
G
Palmieri
A
A
Ceccamea
A
A
Signoretti
D003483:Cutis Laxa / Q000150:complications* / Q000473:pathology; D006618:Hip Dislocation, Congenital / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D010024:Osteoporosis / Q000150:complications*; D011656:Pulmonary Emphysema / Q000150:complications*; D013577:Syndrome
Sindrome della cutis laxa. Studio clinico, istologico ed ultrastrutturale di una nuova variante.