Cutis laxa with ultrastructural abnormalities of elastic fiber.
A case of a congenital, autosomal recessive form of generalized cutis laxa is reported. The patient was a 27-month-old boy with generalized flaccid skin and short stature. Radiologic examination revealed that the age of the bones of the wrist was compatible with a chronologic age of only 1 year. Elastic fibers were diminished throughout the dermis, and results of electron microscopic study showed globular and unstained elastin and relatively large amounts of the microfibrillar components of elastic fibers.
Kitano
Y
Y
Department of Dermatology, Osaka University School of Medicine, Japan.
Nishida
K
K
Okada
N
N
Mimaki
T
T
Yabuuchi
H
H
D001706:Biopsy; D001846:Bone Development; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D003483:Cutis Laxa / Q000151:congenital / Q000473:pathology*; D004547:Elastic Tissue / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008854:Microscopy, Electron