Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
نویسندگان
چکیده
منابع مشابه
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar...
متن کاملCutis laxa: case report.
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 ...
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Congenital leukemia is a rare disease with particular biological and clinical characteristics, which differs from those of older children. Its prognosis is generally poor. Its clinical manifestation may vary (hyperleukocytosis, thrombocytopenia, organomegaly) and some patients can develop cutaneous infiltration by leukemic cells (leukemia cutis). We describe a dysmorphic patient with thrombocyt...
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cutis laxa is an acquired or inherited condition characterized by redundant, sagging and inelastic skin. the inherited form is heterogeneous condition with autosomal dominant, autosomal recessive and x-linked inheritance. autosomal dominant cutis laxa is divided into three types, type i, ii and iii and the responsible genes are eln, fbln5 and aldh18a1 respectively. an x-linked form of cutis l...
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Characteristics suggestive of connective tissue dysfunction have been described in Sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. A variety of cutis laxa syndromes have also been described, some of them exhibiting mental retardation, but no reports have drawn an association with overgrowth or abnormal facies characteristic of Sotos syndrome. We report...
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ژورنال
عنوان ژورنال: American Journal of Ophthalmology Case Reports
سال: 2019
ISSN: 2451-9936
DOI: 10.1016/j.ajoc.2019.100477