Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue
| Autor: | Alan J. Hakim, Anshoo Sahota |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Joint Instability
Joint hypermobility Pathology medicine.medical_specialty medicine.diagnostic_test business.industry Connective tissue Hereditary disorders Dermatology Disease medicine.disease Diagnosis Differential medicine.anatomical_structure Vascular collapse Osteoarthritis medicine Humans Genetic Testing Connective Tissue Diseases business Fibrillin Skin Genetic testing Skin elasticity |
| Zdroj: | Clinics in Dermatology. 24:521-533 |
| ISSN: | 0738-081X |
| DOI: | 10.1016/j.clindermatol.2006.07.013 |
| Popis: | The hereditary disorders of connective tissues (HDCTs) encompass a spectrum of conditions linked pathophysiologically by abnormalities of collagen, fibrillin, and matrix proteins. The clinical picture ranges from morbidity because of musculoskeletal, skin, ocular and visceral pathologies to mortality from acute vascular collapse. For many of the conditions, there is a considerable overlap in clinical features, although severity varies; appreciating the subtle differences in presentation is vital to the clinician in determining the diagnosis. Though conditions associated with severe vascular pathology are rare, other hereditary disorders of connective tissues such as the joint hypermobility syndrome and Stickler's disease are common and probably underrecognized. Abnormal skin elasticity and scaring, joint hypermobility, and chronic arthralgia are important clues that should trigger the clinician to search for underlying hereditary disorders of connective tissues. In this article, we discuss the spectrum of clinical findings, management, and genetic screening of the more common hereditary disorders of connective tissues, highlighting their diagnostic criteria and their differences. |
| Databáze: | OpenAIRE |
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