Results 51 to 60 of about 1,200 (161)

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

Case Reports in Dentistry, Volume 2026, Issue 1, 2026.
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.
Maria Amalia Cruz-Morera, Katherine Molina-Chaves, Adrian Gomez-Fernandez, Hannah Wesley   +3 more
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

Use of Janus Kinase Inhibitors in the Treatment of Genodermatoses: A Systematic Review

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Introduction Genodermatoses are rare inherited skin disorders with limited treatment options. Emerging evidence suggests Janus kinase (JAK) inhibitors may offer therapeutic benefits by modulating underlying immune and inflammatory pathways. This study aims to systematically review the efficacy and safety of JAK inhibitors in treating genodermatoses ...
Pin-Chun Chen, Chih-Chiang Chen, Sheng-Hsiang Ma, Tai-Li Chen, Suraiya Saleem   +4 more
wiley   +1 more source

The Roles of EDA2R in Ageing and Disease

Aging Cell, Volume 24, Issue 12, December 2025.
Elevated expression of the ectodysplasin A2 receptor (EDA2R) has been linked to ageing and disease. We appraise the roles of EDA2R in these processes, exploring mechanisms of action, biomarker potential and therapeutic relevance of EDA2R in multiple contexts. ABSTRACT Ageing is a complex biological process driven, in part, by inflammaging.
Gemma Farrington, Lauren Tonge, Tracy Branagan, Sud Sudirman, Chao Fang, Louis Luk, Serkan Kir, Marco Bolis, Ildus I. Ahmetov, Kehinde Ross   +9 more
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

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

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

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

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

Contemporary Clinical Dentistry, 2015
The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked ...
Manisha Goyal, Gaurav Pradhan, Sunita Gupta, Seema Kapoor   +3 more
doaj   +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