نتایج جستجو برای: cutis laxa
تعداد نتایج: 2419 فیلتر نتایج به سال:
Cutis laxa is a rare inherited or acquired disorder of elastic tissue characterized by inelastic and loose skin. Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. The authors present the case of a female patient with clinical manifestations suggestive of the hereditary form of the disease, with consanguineous parents (second-degree cousins) and a ...
Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A,...
IMPORTANCE Acquired cutis laxa is a rare cutaneous manifestation of hematologic malignancy. We report a case of γ heavy chain deposition disease (HCDD) associated with acquired cutis laxa, renal involvement, and hypocomplementemia and propose a mechanism of elastic fiber degradation in the skin of this patient with HCDD. OBSERVATIONS To determine the localization of immunoglobulin heavy chain...
BACKGROUND Cutis laxa is a rare dermatosis that can be inherited or acquired. The acquired form is rare and has been associated with various conditions, including multiple myeloma, monoclonal gammopathy of undetermined significance, and heavy chain deposition disease. OBSERVATIONS We describe a 48-year-old man who developed generalized cutis laxa over a 4-year duration. There were no precedin...
Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individ...
Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects. We have explored elastin metabolism in a case of adult onset cutis laxa localized to the upper body of a woman. For this purpose, we obtained skin biopsies from affected and unaffected skin areas of the patient and analyzed these with m...
Cutis laxa (CL) is a heterogeneous group of disorders characterized by loose, redundant, inelastic or prematurely wrinkled skin (Berk et al., 2012; Uitto et al., 2013). Several inherited forms of CL have been identified (Urban and Davis, 2013), with 9 causative genes known to date (ALDH18A1, ATP6V0A2, ATP7A, EFEMP2/FBLN4, ELN, FBLN5, LTBP4, PYCR1, RIN2). A shared feature of all types of inherit...
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