Abstract | BACKGROUND: We describe a recently observed set of autosomal dominant GEMSS ( glaucoma, lens ectopia, microspherophakia, stiffness of the joints, and shortness) syndrome in a 47-year-old woman and her 23-year-old son. In addition, sclerosis of the skin, from which both patients suffered, is investigated in detail. OBSERVATIONS: The histologic examination of skin biopsy specimens obtained from the upper aspects of the backs of both patients revealed a markedly thickened dermis. Immunohistochemical examination of the dermal collagen bundles showed a collagen pattern similar to systemic sclerosis and normal control skin. In situ hybridization showed a markedly enhanced gene expression of transforming growth factor beta 1. CONCLUSION:
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Authors | M Kunz, W Paulus, S Sollberg, F Weilbach, W Voeske, G Ludwig, E B Bröcker, H Hamm |
Journal | Archives of dermatology
(Arch Dermatol)
Vol. 131
Issue 10
Pg. 1170-4
(Oct 1995)
ISSN: 0003-987X [Print] United States |
PMID | 7574834
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Abnormalities, Multiple
(metabolism)
- Adult
- Biopsy
- Body Height
- Bone and Bones
(abnormalities)
- Collagen
(biosynthesis)
- Female
- Glaucoma
- Humans
- Joint Diseases
- Lens, Crystalline
(abnormalities)
- Male
- Middle Aged
- Sclerosis
(metabolism)
- Skin
(pathology)
- Syndrome
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