Results 61 to 70 of about 1,200 (161)

Nasal Myiasis in a Female with Christ–Siemens–Touraine Syndrome: A Case Report

Journal of Nepal Medical Association
Ectodermal dysplasia is a rare disease that belongs to a diverse group of inherited monogenic disorders involving defects in one or more ectodermally or mesodermally derived tissues.
Leison Maharjan, Anju Shah, Dhirendra Yadav, Namita Shrestha   +3 more
doaj   +1 more source

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases

Pediatric Pulmonology, Volume 60, Issue 4, April 2025.
ABSTRACT Introduction Childhood interstitial and diffuse lung diseases (chILD) comprise a diverse group of rare disorders. Identifying the underlying cause is crucial for treatment, prognosis, and estimating recurrence risk. The objective of this study was to assess the utilization of genetic testing for subjects enrolled in the United States National ...
Laura A. Voss, Rebekah J. Nevel, Jennifer A. Wambach, Lawrence M. Nogee, Robin R. Deterding, Alicia M. Casey, Michael G. O'Connor, Daniel I. Craven, Jane B. Taylor, Gail H. Deutsch, Jade B. Tam‐Williams, Lea C. Steffes, Steven K. Brennan, Maria T. Santiago, Sara C. Sadreameli, Andrea F. Heras, Michael R. Powers, Antonia P. Popova, Manvi Bansal, Aaron Hamvas, William A. Gower, Fernando Urrego, Lisa R. Young, for The ChILD Registry Collaborative   +23 more
wiley   +1 more source

Prosthetic Rehabilitation of a Three-year-old Child with Ectodermal Dysplasia: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Ectodermal Dysplasia (ED) is a rare congenital syndrome that exhibits defects in two or more ectodermal tissues. Dental manifestations include delayed eruption of permanent dentition, complete absence of teeth or absence of a few teeth, and peg-shaped ...
Yashshwini Shroff, Brahmananda Dutta, S Bhuvaneshwari, Varsha Sharma   +3 more
doaj   +1 more source

Molecular aspects of hypohidrotic ectodermal dysplasia [PDF]

American Journal of Medical Genetics Part A, 2009
AbstractHypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway,
openaire   +2 more sources

Ectodermal dysplasia

Journal of Indian Academy of Oral Medicine and Radiology, 2009
Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an
Sonia Saggoo, Anita Munde, Manjula Hebbale, Manjiri Joshi   +3 more
doaj   +1 more source

Ectodermal dysplasia in identical twins

Journal of Pharmacy and Bioallied Sciences, 2013
Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands.
Gurkar Haraswarupa Puttaraju, Paranjyothi Magadi Visveswariah   +1 more
doaj   +1 more source

Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype

Indian Journal of Dermatology, 2019
Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic.
Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia Mahay, Pratibha Bhai, Renu Saxena, Ishwar C Verma   +5 more
doaj   +1 more source

Despite the hair failing, nails thrive…

Indian Journal of Paediatric Dermatology, 2017
Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth.
Samipa Samir Mukherjee, B S Chandrashekar   +1 more
doaj   +1 more source

A Rare Case of Hypohidrotic Ectodermal Dysplasia

Journal of Clinical and Biomedical Sciences
A wide range of hereditary diseases affecting two or more ectodermally derived tissues together are referred to as ectodermal dysplasias (EDs). The most frequently impacted ectodermal derivatives are the teeth, nails, sweat glands, and hair.
Hariharasubramanian M, Rajashekar T S, Suresh Kumar K, Hanumanthayya K   +3 more
doaj   +1 more source

[Hypohidrotic ectodermal dysplasia].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1988
The authors report a case of Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). Diagnosed at the age of 2 months.
M, Strano, V, Franchini, A, Santini, L, Giannone, M, Terni, M E, Martinucci, C, Calandi   +6 more
openaire   +1 more source