نتایج جستجو برای: hypohidrotic ectodermal dysplasia

تعداد نتایج: 30775  

2009
Gurusamy Kayalvizhi R Neeraja

Ectodermal dysplasia exhibits a classic triad of hypohidrosis, hypotrichosis, and hypodontia. Self- mutilation could be due to organic or functional causes. The occurrence of selfmutilation with functional cause represents a diagnostic challenge to practitioners. In most of the instances dentists are the first to recognize patient with ectodermal dysplasia as they report primarily with a compla...

Journal: :Medicina oral, patologia oral y cirugia bucal 2008
Adolfo Pipa Vallejo Elena López Arranz Monje Manuel González García Miguel Martínez Fernández Fernando Blanco Moreno Alvarez Buylla

Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse, fine and weak; anomalies in the skin and nails), hypohidrosis (due to the paucity of sweat glands which in turn gives rise to sweat disorders) and...

Journal: :Cureus 2023

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by mutation in either the ectodysplasin (EDA), A receptor (EDAR), EDAR associated via death domain (EDARADD), or Wnt family member 10A (WNT10A) genes that result impaired development of ectodermal-derived structures. The literature defines two types dysplasia, which are hypohidrotic and hidrotic. X‐linked (XLHED), also kn...

Journal: :American Journal of Medical Genetics Part A 2009

2011
K. K. Shashibhushan Revathy Viswanathan Sathyajith Naik Subba Reddy

Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/ or permanent dentition. A case report illustrating the prosthetic rehabilitati...

Journal: :American journal of medical genetics 1993
R L Ladda J Zonana J C Ramer M J Mascari P K Rogan

Brothers were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq...

Journal: :Indian Journal of Paediatric Dermatology 2014

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