Perisigmoid Abscess Leading to a Diagnosis of Ehlers-Danlos Syndrome Type IV
نویسندگان
چکیده
The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility. Ehlers-Danlos syndrome type IV places patients at risk for life-threatening, spontaneous, vascular or visceral rupture due to reduced or abnormal secretion of type III collagen. We present an adolescent male who was found to have a perisigmoid abscess with a fistula connecting to adjacent sigmoid colon secondary to undiagnosed EDS type IV. Conservative management with antibiotics and bowel rest was pursued to allow for elective resection for his acute complicated diverticulitis at a safer time.
منابع مشابه
Ehlers-Danlos syndrome: type VI A – kyphoscoliosis; a case report
Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous groupof inherited disorders with ten different types, all involving agenetic defect in collagen and connective-tissue synthesis andstructure that affecting the skin, joints, and blood vessels. EDStype VIA, a very rare kyphoscoliotic type, is autosomal recessiveand clinically characterized by soft extensible skin, laxity ofjoints and kyp...
متن کاملEhlers-Danlos Syndrome (TYPEI) with Mental Retardation -an Unusual Association (Reports on Two Brothers)
Ehlers Danlos syndrome (EDS) is an inherited connective tissue disease due to impaired collagen metabolism. Joint hypermobility and skin hyper extensibility are the major findings. Six types of EDS are recognized. Type I or Gravis type is characterized by skin hyperextensibility, joint hypermobility, skin splitting autosoml dominancy inheritance, preterm premature rupture of membrane (PPROM) an...
متن کاملMyocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation.
Ehlers-Danlos syndrome encompasses a group of inherited disorders of connective tissue, some of which are characterised by abnormalities of collagen metabolism. The chromosomal location, identified genes and biochemical defects, inheritance pattern, and clinical features for the various known subtypes are outlined. Prenatal diagnosis is possible for types IV, VI, VIIA1, and VIIA2. An unusual pr...
متن کاملAn Iranian family with cutis laxa and classic Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) is a heterogenous group of inherited disorders of connective tissue characterized by fragility of the skin and blood vessels, hyperextensibility of the skin and joint hypermobility. Cutis laxa is characteized clinically by lax, pendulous skin and histologically by loss of elastic tissue in the dermis. There are some reports of coexistence of cutis laxa with ot...
متن کاملEhlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene.
Ehlers-Danlos syndrome type IV (EDS IV) is caused by mutation within the COL3AI gene, resulting in the disorder of type III procollagen. The diagnosis is confirmed by demonstrating the synthesis of abnormal type III procollagen molecules from cultured dermal fibroblasts or by identifying the mutation in the COL3A1 gene. The authors report a case of EDS IV caused by a novel point mutation in the...
متن کامل