title: Cutis laxa with ultrastructural abnormalities of elastic fiber.
abstract: 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.
authors.affiliation: Department of Dermatology, Osaka University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kitano
authors.forename: K
authors.initials: K
authors.lastname: Nishida
authors.forename: N
authors.initials: N
authors.lastname: Okada
authors.forename: T
authors.initials: T
authors.lastname: Mimaki
authors.forename: H
authors.initials: H
authors.lastname: Yabuuchi
mesh_terms: 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