نتایج جستجو برای: hypohidrotic ectodermal dysplasia
تعداد نتایج: 30775 فیلتر نتایج به سال:
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...
Various forms of ectodermal dysplasia (ED) have been identified in animals. These animal models of ED may help in our understanding of the pathogenesis of ED and the development of novel therapeutic approaches. Mice, dogs, and cattle with mutations in the X-linked EDA gene have been reported and show clinical features that closely resemble X-linked hypohidrotic ectodermal dysplasia in humans. W...
Umbilical cord blood transplantation can cure pruritic eczematous eruption in a hypohidrotic ectodermal dysplasia with immunodeficiency patient Satoko Minakawa, MD, PhD, Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan; Daisuke Sawamura, MD, PhD, Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan...
Ectodermal dysplasia (ED) is a genetically heterogeneous condition resulting from clinical anomalies of structures derived from the ectoderm, such as the hair, nails, sweat glands, and teeth. This clinical report presents the case of a child diagnosed with hypohidrotic ED at 2 years of age; clinical and imaging evaluation was performed with 6-year follow-up, and we present details of the prosth...
We report a case of a six years age girl who presented to our out patients department with the history and findings suggestive of recurrent respiratory tract infections. She was also noticed to have: non homogeneous hyperpigmented patches on the face since three months of age, sparse hair on the scalp and eyebrows, conical peg like teeth and delayed dentition, prominent and low set ears, perpet...
Ectodermal dysplasia is a genetic disorder in which there are congenital birth abnormalities of 2 or more ectodermal structures. The treatment options for patient with ectodermal dysplasia varies depending on the age, degree of malformation of teeth, no of teeth present and the growth and development of the stomatognathic system. This case report discusses the prosthodontics rehabilitation of y...
Nuclear factor-κB essential modulator (NEMO), the regulatory subunit of the IκB kinase complex, is a critical component of the NF-κB pathway. Hypomorphic mutations in the X-linked human NEMO gene cause various forms of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). All known X-linked EDA-ID-causing mutations impair NEMO protein expression, folding, or both. We describe here 2 E...
OBJECTIVE Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial. METHOD In a cross-sectional study, 45 youth with HED (77% males, mean age 9.75 years) and 59 matched unaffected controls (70% males, mean age 9.7...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید