Results 1 to 10 of about 1,293 (132)

X-Linked Anhidrotic Ectodermal Dysplasia in A 19-Year-Old Male: A Classic Phenotype. [PDF]

Clin Case Rep
ABSTRACT X‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene.
Chapagain L, Dahal A, Gupta P, Pudasaini P, Paudel U.   +4 more
europepmc   +2 more sources

Hypohidrotic ectodermal dysplasia

Indian Dermatology Online Journal, 2012
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, hypotrichosis and hypodontia.
Saurabh Agarwal, Shalini Gupta
exaly   +3 more sources

Pediatric Dental Management of a Patient With Infantile Osteopetrosis in Remission: A Clinical Case Report. [PDF]

Case Rep Dent
Background Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective osteoclast function. Its clinical presentation varies according to subtype, and oral manifestations are frequent, potentially serving as early indicators of the disease.
Cruz-Morera MA, Molina-Chaves K, Gomez-Fernandez A.   +2 more
europepmc   +2 more sources

Ectodermal Dysplasia – An Overview and Update [PDF]

Indian Dermatology Online Journal
Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands.
Anubha Dev, Kittu Malhi, Rahul Mahajan
doaj   +2 more sources

X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease [PDF]

Molecular Genetics and Metabolism Reports
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic congenital disorder characterized by allelic heterogeneity, affecting the ectodermal structures.
Yamato Hanawa, Wataru Murasaki, Tatsuya Ando, Yuji Baba, Hiroyuki Namba   +4 more
doaj   +2 more sources

Hypohidrotic Ectodermal Dysplasia (ED): A Case Series [PDF]

Journal of Clinical and Diagnostic Research, 2014
Ectodermal Dysplasia (ED) is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands.
Mallika Kishore, Sunil R. Panat, Ashish Aggarwal, Nupur Agarwal, Nitin Upadhyay, Kratika Ajai, Abhijeet Alok   +6 more
doaj   +1 more source

Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia

Clinical Case Reports, 2022
Rapp–Hodgkin syndrome (RHS) is a rare condition that is characterized by ectodermal dysplasia and palatal abnormalities. Palmoplantar keratoderma (PPK) is an unusual manifestation of hidrotic ED. Ulcerations on the palms are also not common in RHS.
Wissal Abdelli, Asmahen Souissi, Fatima Alaoui, Wiem Sassi, Ines Chelly, Slim Haouat, Mourad Mokni   +6 more
doaj   +1 more source

Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers [PDF]

Journal of Clinical and Diagnostic Research, 2014
Ectodermal dysplasia is a rare disorder. Christ-Siemens-Touraine syndrome (Hypohidrotic Ectodermal dysplasia (HED)) is a diffuse, non-progressive disease present at birth and involves at least two tissues of ectodermal origin.
RITA V VORA, GOPIKRISHNAN ANJANEYAN, ARVIND CHAUDHARI, ABHISHEK P PILANI   +3 more
doaj   +1 more source

Presentation of hypohidrotic ectodermal dysplasia in two siblings

Journal of Indian Academy of Oral Medicine and Radiology, 2015
Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder.
Uday Ginjupally, Balaji Babu Bangi, Lavanya Gadapa, Pooja Madki   +3 more
doaj   +1 more source

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report

Molecular Genetics and Metabolism Reports, 2021
Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.).
Baiba Alksere, Liene Kornejeva, Ieva Grinfelde, Aigars Dzalbs, Dace Enkure, Una Conka, Santa Andersone, Arita Blumberga, Liene Nikitina-Zake, Liga Kangare, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Juris Erenpreiss, Violeta Fodina   +14 more
doaj   +1 more source