Results 61 to 70 of about 1,792 (188)

A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia

G3: Genes, Genomes, Genetics, 2019
In this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial congenital hypotrichosis,
Danae Vasiliadis, Marion Hewicker-Trautwein, Daniela Klotz, Michael Fehr, Stefka Ruseva, Jennifer Arndt, Julia Metzger, Ottmar Distl   +7 more
doaj   +1 more source

Rehabilitation of ectodermal dysplasia patient with a telescopic denture in the maxilla and mandibular implant assisted overdenture: A case report

Clinical Case Reports, 2021
Hypohidrotic ectodermal dysplasia is a heritable disease, characterized by hypodontia, hypotrichosis, and anhidrosis. This clinical report demonstrates prosthetic rehabilitation of a patient complaining of impaired mastication and the odd appearance of ...
Heba Alajami, Jamal Saker
doaj   +1 more source

Categories of Cutaneous Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.
ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley   +1 more source

Keratoconus in hypohidrotic ectodermal dysplasia

The Pan-American Journal of Ophthalmology, 2019
The hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease characterized by the absence or deficiency function of the ectodermal derivatives.
Carolina Peres Batalha, Marcelo Vicente Andrade Sobrinho, Gabriela Chaves Hoehr, Letícia Tavares Selegatto, Rafaela Bacco Amade   +4 more
doaj   +1 more source

Clinical Classification of Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.
Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
wiley   +1 more source

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis

Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley   +1 more source

Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report

Delhi Journal of Ophthalmology
Ectrodactyly–ectodermal dysplasia–clefting syndrome is a rare autosomal dominant disorder with variable expression and penetrance and involves both ectodermal and mesodermal tissues.
Rekha R. Khandelwal, Deepa Ajitkumar, Sushil Pande   +2 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 with fixed prosthesis of a 5-year-old child with Hypohidrotic Ectodermal Dysplasia and Oligodontia: a case report

Journal of Medical Case Reports, 2019
Background Ectodermal dysplasia is a rare genetic disorder that affects ectodermally derived structures, including teeth, nails, hair, and sweat glands.
Reema AlNuaimi, Mohammad Mansoor
doaj   +1 more source

Oligodontia Management in a Resource‐Limited Setting: Two Case Reports and Review of Literature

Case Reports in Dentistry, Volume 2025, Issue 1, 2025.
Introduction: Oligodontia represents the developmental absence of six or more teeth, posing significant challenges for masticatory function, speech, and psychosocial well‐being. While extensively documented in developed countries, limited reports exist from resource‐constrained settings in Africa.
A. B. Malami, B. E. Ogbozor, C. C. Okolo, A. O. Aborisade, U. B. Mahmud, A. A. Abulfathi, Y. I. Adeyemo, Hannah Wesley   +7 more
wiley   +1 more source