Results 31 to 40 of about 737 (185)

Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis‐Ichthyosis‐Deafness) Syndrome

open access: yesCase Reports in Orthopedics, Volume 2020, Issue 1, 2020., 2020
Purpose. Progressive deformity of the lower limbs can be encountered in a long list of syndromic associations. The baseline tool in the management of such disorders is to approach to a definite diagnosis. Methods. We describe a 4‐year‐old girl who presented with the clinical phenotype and genotype of congenital erythrokeratoderma, keratosis, and ...
Oleg Kozhevnikov   +6 more
wiley   +1 more source

Recreating the missing smile: A case report on ectodermal dysplasia

open access: yesSRM Journal of Research in Dental Sciences, 2012
Ectodermal dysplasia syndrome is a group of hereditary disorders affecting the structures developing from the ectoderm. More than 150 different types have been described with the most common being the hypohidrotic and the hidrotic types.
R Shakila   +3 more
doaj   +1 more source

Hypohidrotic ectodermal dysplasia and finger clubbing – An unknown association

open access: yesAsian Journal of Medical Sciences, 2014
The ectodermal dysplasias are heterogenous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as hair, tooth, nail and sweat gland.
Amit Sarkar
doaj   +1 more source

Harnessing the Therapeutic Potential of Antibodies Targeting Connexin Hemichannels [PDF]

open access: yes, 2021
Connexin hemichannels have been implicated in pathology-promoting conditions, including inflammation, numerous widespread human diseases, including cancer and diabetes, and several rare diseases linked to pathological point ...
Buratto, Damiano   +3 more
core   +1 more source

Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins [PDF]

open access: yes, 2012
Autosomal recessive hereditary ectodermal dysplasia (HED) has not been described in sub‑Saharan Africa. It is acknowledged to be rarer than the occasionally reported x‑linked and autosomal dominant variants. We report a pair of Nigerian female twins with
Ajike, SO   +3 more
core   +2 more sources

Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association

open access: yesIndian Dermatology Online Journal, 2016
Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED.
Sunil K Kothiwala   +2 more
doaj   +1 more source

Living in the sub-sahara with anhidrotic ectodermal dysplasia: Report of two cases

open access: yesMedical Journal of Dr. D.Y. Patil Vidyapeeth, 2018
Ectodermal dysplasia occurs worldwide. It is a hereditary disorder, and there are predominately two forms as follows: X-linked anhidrotic form and an autosomal dominant hidrotic form.
Ibrahim Aliyu
doaj   +1 more source

Anhidrotic ectodermal dysplasia: a case report in a Nigerian child and literature review [PDF]

open access: yes, 2012
This report of Hereditary anhidrotic ectodermal dysplasia (HAED), a genetic disorder characterized by abnormalities of structures of ectodermal origin, was informed by its rarity, and its import for survival in a tropical environment.
Abdulkarim, AA   +4 more
core   +2 more sources

Dental management of hypohidrotic ectodermal dysplasia: A report of two cases

open access: yesContemporary Clinical Dentistry, 2015
Ectodermal dysplasia (ED) represents a group of inherited conditions characterized by anomalies in two or more structures of ectodermal origin, which can be presented as problems related to hair, nail, teeth, sweat glands, and sebaceous glands.
Meenu Mittal   +3 more
doaj   +1 more source

A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates

open access: yesJournal of Family Medicine and Primary Care, 2018
Ectodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. The two most common forms of the disease are hypohidrotic/anhidrotic ED and hidrotic
Girish Gulab Meshram   +2 more
doaj   +1 more source

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