| Literature DB >> 1907230 |
A Damkier1, F Brandrup, H Starklint.
Abstract
Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients, and both had been operated on for abdominal hernia and genital prolapse. There were no cardiopulmonary symptoms. Histopathological investigation showed a reduction in the amount of elastic tissue in the dermis, but normally localized and ultrastructurally normal components. The family history revealed clinically similar cases in at least five generations, consistent with autosomal dominant inheritance.Entities:
Mesh:
Year: 1991 PMID: 1907230 DOI: 10.1111/j.1399-0004.1991.tb03038.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438