Results 51 to 60 of about 2,089 (158)
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 +4 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai +5 more
wiley +1 more source
Hypohidrotic Ectodermal Dysplasia: Dental Features and Carriers Detection [PDF]
, 2001 Ectodermal dysplasia is a heterogeneous condition characterized by affected ectodermal structures, among which the teeth and skin with its derivatives (hair, sweat glands) are the most frequent.
Glavina, D. +7 more
core +1 more source
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 +7 more
doaj +1 more source
Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis
Cell Proliferation, Volume 59, Issue 3, March 2026.Epithelial Kdf1 knockout disrupts molar cusp morphogenesis by promoting inner enamel epithelium proliferation and invagination via PI3K/AKT/mTOR signalling. ABSTRACT Keratinocyte differentiation factor 1 (Kdf1) reportedly plays a significant role in enamel formation.
Jiayu Wang +9 more
wiley +1 more source
Auto-percepção dos portadores de Amelogênese Imperfeita e Displasia [PDF]
, 2012 TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.A Amelogênese Imperfeita é um distúrbio hereditário caracterizado pela formação anormal de esmalte, o que gera dentes com alteração de cor, sensibilidade e
Klita, Ana Paula Haisi
core
Case Reports in Dentistry, Volume 2026, Issue 1, 2026.Ectodermal dysplasia (ED) is a heterogeneous group of inherited disorders affecting ectoderm‐derived structures, with dental anomalies representing a major clinical concern. This case report describes three siblings from a Tunisian family presenting marked intrafamilial phenotypic variability of ED.
Farah Chouchene +3 more
wiley +1 more source
Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma
, 2007 We report a 6-year-old girl with a subtle form of hypohidrotic ectodermal dysplasia and a phenotype consisting of curly hair, a round face, a stocky build, and obesity, which was associated with intrathoracic neuroblastoma.
Cuccia A +10 more
core +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 +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 +9 more
wiley +1 more source