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- Title
Cutaneous signs in heritable disorders of the connective tissue.
- Authors
Inamadar, Arun C.; Palit, Aparna
- Abstract
The article discusses cutaneous signs in heritable disorders of the cutaneous disease. Heritable disorders of the connective tissue are caused by genetic mutations affecting individual components like collagen and elastin or enzymes regulating their metabolism. The important disorders in this group include Marfan syndrome, cutis laxa and pseudoxanthoma elasticum. All these disorders are associated with significant disability and life-threatening complications Patients with Marfan syndrome present with unusually tall habitus, long, thin extremities, arachnodactyly and sometimes, joint hypermobility. Pseudoxanthoma etasticum is a unique disorder with predominant cardiovascular and ophthalmologic involvement.
- Subjects
SKIN diseases; CONNECTIVE tissues; MUSCULOSKELETAL system; COLLAGEN; MARFAN syndrome; GENETIC mutation
- Publication
Indian Journal of Dermatology, Venereology & Leprology, 2004, Vol 70, Issue 4, p253
- ISSN
0378-6323
- Publication type
Article