نتایج جستجو برای: monilia laxa

تعداد نتایج: 831  

Journal: :Annals of dermatology 2010
Se Young Na Mira Choi Min Ji Kim Jong Hee Lee Soyun Cho

Elastosis perforans serpiginosa (EPS) is a rare reactive perforating dermatosis that is characterized by the transepidermal elimination of abnormal elastic fibers. Penicillamine, which is one of the clear triggers for EPS, is a heavy metal chelator that is primarily used for disorders such as cystinuria and Wilson's disease. It may cause alterations in the dermal elastic tissue such as pseudo-p...

Journal: :Bitki koruma bulteni 2023

The use of vermicompost in agriculture has become increasingly common, especially organic agriculture. In this research, the suppression efficiency horse and cattle extracts against some aerial fungal plant pathogens (Monilinia laxa, Cytospora leucostoma, Botryosphaeria obtusa, Phomopsis viticola, Alternaria mali, Botrytis cinerea) that damage fruit trees are common production areas, was studie...

Journal: :Proceedings of the Royal Society of Medicine 1948

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...

2017
Rakesh Kumar Sheetal Sharda Vimlesh Soni Kaniyappan Nambiyar

Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogen...

2014
Mohajerzadeh Leily Sadeghian Naser Mirshemirani Aliraza Khaleghnejad Tabari Ahmad Rouzrokh Mohsen Jafari Nahid

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...

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...

2018
Juliette Piard James Lespinasse Marketa Vlckova Martin A Mensah Sorin Iurian Martina Simandlova Marcela Malikova Oliver Bartsch Massimiliano Rossi Marion Lenoir Frédérique Nugues Stefan Mundlos Uwe Kornak Philip Stanier Sérgio B Sousa Lionel Van Maldergem

The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a v...

2015
Mohammadbagher Rahmati Maryam Yazdanparast Keramatallah Jahanshahi Mohadese Zakeri

Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe wrinkly skin syndrome and leads to more severe diseases related to growth and developmen...

Journal: :The Turkish journal of pediatrics 2003
Beyhan Tüysüz Müjde Arapoğlu Barbaros Ilikkan Cuyan Demirkesen Yildiz Perk

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type II autosomal recessive disease. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the sib...

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