نتایج جستجو برای: cutis laxa

تعداد نتایج: 2419  

2017
Ariana Kariminejad Fariba Afroozan Bita Bozorgmehr Alireza Ghanadan Susan Akbaroghli Hamid Reza Khorram Khorshid Faezeh Mojahedi Aria Setoodeh Abigail Loh Yu Xuan Tan Nathalie Escande-Beillard Fransiska Malfait Bruno Reversade Thatjana Gardeitchik Eva Morava

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...

A SARIHI, H POUR-JAFARI,

Congenital cutis laxa is an exceptional condition. No large scale pedigree has been reported from Iran. We report a family with 106 members with two members affected with cutis laxa. Our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. Their ...

Journal: :medical journal of islamic republic of iran 0
h pour-jafari from the departments o.f*genetics sciences. hamadan. i.r. iran. a sarihi

congenital cutis laxa is an exceptional condition. no large scale pedigree has been reported from iran. we report a family with 106 members with two members affected with cutis laxa. our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. their famil...

Mahmoud Farhoudi Nasser Tayyebi Meybodi Vahid Mashayekhi Guyunlou Yalda Nahidi, Zari Javidi

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...

Journal: :Human molecular genetics 2002
Bart Loeys Lionel Van Maldergem Geert Mortier Paul Coucke Sabine Gerniers Jean-Marie Naeyaert Anne De Paepe

Hereditary cutis laxa comprises a heterogeneous group of connective tissue disorders characterized by loose skin and variable systemic involvement. Autosomal dominant and recessive as well as X-linked forms have been described. Some dominant forms are caused by mutations in the elastine gene (ELN). The X-linked form is now classified in the group of copper transport diseases. The genetic defect...

Journal: :Journal of medical genetics 2006
Z Szabo M W Crepeau A L Mitchell M J Stephan R A Puntel K Yin Loke R C Kirk Z Urban

BACKGROUND Cutis laxa is an acquired or inherited condition characterized by redundant, pendulous and inelastic skin. Autosomal dominant cutis laxa has been described as a benign disease with minor systemic involvement. OBJECTIVE To report a family with autosomal dominant cutis laxa and a young girl with sporadic cutis laxa, both with variable expression of an aortic aneurysmal phenotype rang...

Journal: :genetics in the 3rd millennium 0
ariana karimineja eva morava thatjana gardeitchik bruno reversade siavash ghaderi-soh tim van damme

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...

2013
Mehdi Alehossein Masoud Pourgholami Kamyar Kamrani Mohammad Soltani Afshin Yazdi Payman Salamati

Cutis laxa (CL) is a rare congenital and acquired disorder characterized by loose and redundant skin with reduced elasticity. Three types of congenital cutis laxa have been recognized. Other findings are pulmonary emphysema, bronchiectasia, hernia and diverticulosis. We describe a female neonate involved by cutis laxa syndrome and a positive family history. We focus on the radiologic findings o...

Journal: :archives of anesthesiology and critical care 0
anahid maleki tehran university of medical sciences alireza ebrahim soltani tehran university of medical sciences mehrdad goudarzi tehran university of medical sciences amir abbas yaghooti tehran university of medical sciences abbas ostad alipour tehran university of medical sciences ebrahim espahbodi tehran university of medical sciences

cutis laxa is rare and hetrogenous group of disorders related to abnormalities in elastic tissue. it may be autosomal recessive, autosomal dominant, x linked or acquired. acquired cutis laxa has developed after a febrile illness, inflammatory skin disease such a lupus eryhymatosis or erythema multiform, amyloidosis, hypersensitivity reaction to penicillin and in infants born from women who were...

Journal: :iranian journal of radiology 0
mehdi alehossein advanced diagnostic and interventional radiology research center, tehran university of medical sciences, tehran, iran masoud pourgholami department of radiology, tehran university of medical sciences, tehran, iran kamyar kamrani department of pediatrics, tehran university of medical sciences, tehran, iran mohammad soltani department of radiology, tehran university of medical sciences, tehran, iran afshin yazdi department of radiology, tehran university of medical sciences, tehran, iran payman salamati advanced diagnostic and interventional radiology research center, tehran university of medical sciences, tehran, iran; advanced diagnostic and interventional radiology research center (adir), medical imaging center, imam khomeini hospital, tehran, iran. tel: +98-2166581579, fax: +98-2166581580

cutis laxa (cl) is a rare congenital and acquired disorder characterized by loose and redundant skin with reduced elasticity. three types of congenital cutis laxa have been recognized. other findings are pulmonary emphysema, bronchiectasia, hernia and diverticulosis. we describe a female neonate involved by cutis laxa syndrome and a positive family history. we focus on the radiologic findings o...

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