نتایج جستجو برای: cutis laxa
تعداد نتایج: 2419 فیلتر نتایج به سال:
A 69-year-old man presented with loose, pendulous skin affecting his earlobe that had been treated 2 years earlier with a wedge excision for squamous cell carcinoma in situ. Histological examination of this tissue revealed no residual carcinoma but demonstrated fragmented elastic fibers indicating postoperative acquired cutis laxa. The affected tissue was excised with an incision extending down...
Cranioectodermal dysplasia (CED) is a very rare autosomal recessive disorder characterized by a recognizable craniofacial profile in addition to ectodermal manifestations involving the skin, hair, and teeth. Four genes are known to be mutated in this disorder, all involved in the ciliary intraflagellar transport confirming that CED is a ciliopathy. In a multiplex consanguineous family with typi...
Recent studies have revealed an important role for LTBP-4 in elastogenesis. Its mutational inactivation in humans causes autosomal recessive cutis laxa type 1C (ARCL1C), which is a severe disorder caused by defects of the elastic fiber network. Although the human gene involved in ARCL1C has been discovered based on similar elastic fiber abnormalities exhibited by mice lacking the short Ltbp-4 i...
Acquired cutis laxa (ACL) is a rare connective tissue disorder characterized by pendulous and coarsely wrinkled skin. There have been few cases of its association to monoclonal immunoglobulin deposition disease (MIDD), which constitutes the light chain (LCDD), heavy chain (HCDD), and light and heavy chain (LHCDD) deposition disease. MIDD predominantly involves the kidney. Skin is the next commo...
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