Cutis laxa presenting as recurrent ileus
نویسندگان
چکیده
Cutis laxa (CL) is a rare connective tissue disorder characterized by phenotypic appearance of loose and redundant skin. CL can be congenital or acquired. Congenital forms include autosomal dominant, autosomal recessive and X-linked recessive. Apart from cutaneous abnormalities, CL can present with visceral involvement. In this article, we report a case of CL presenting as recurrent ileus.
منابع مشابه
Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: A report of two unrelated patients and a literature review
Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow...
متن کاملPostoperative Intussusception in a Neonate with Congenital Cutis Laxa and Huge Hiatal Hernia
Congenital cutis laxa is a genetically heterogeneous condition presenting in the newborn with loose, redundant skin folds, decreased elasticity of the skin, and general connective tissue involvement. A 2-day-old full term neonate with congenital cutis laxa presented with respiratory distress. Investigations revealed huge hiatal hernia. Patient underwent loose Nissen's fundoplication. In postope...
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 کاملگزارش 1 مورد Cutis Laxa همراه با دررفتگی دو طرفه مفصل ران
ABSTRACT Cutis laxa is a congenital disorder transmitted as autosomal ressesive and dominate trait. This disorder has an acquired form that develops after febrile illness or skin inflammatory fisease. A 5 month old girl with generalized loose skin and these facial features including a hooked nose with everted nosetrils, long filtrom, high arch palate, wide fontanels, hypertelorism, e...
متن کاملA Newborn with Arterial Tortuosity Syndrome: The Importance of Timely Diagnostic Work-Up in Patients Presenting with Cutis Laxa
Arterial tortuosity syndrome (ATS) is a rare, autosomal recessively inherited connective tissue disorder characterized by severe and widespread arterial tortuosity of the aorta and of middle-sized arteries with an increased risk of aneurysm, dissection, and stenosis involving either the aorta or the pulmonary arteries or both. In this article, we report the clinical findings and molecular chara...
متن کامل