Lung and eye involvement in X-linked hypohidrotic ectodermal dysplasia
نویسندگان
چکیده
Objective X-linked hypohidrotic ectodermal dysplasia (XLHED; ectodysplasin deficiency) has been classically described as affecting hair, sweat glands and dentition. What may be underappreciated is the effect ectodysplasin deficiency has on glands surrounding the airways and eyes and the resulting chronic health issues. In this study, we evaluated respiratory and ocular symptoms in XLHED patients.
منابع مشابه
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene
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...
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Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is estimated to affect at least one in 17000 people worldwide. We report a rare case of HED in a 14-year-old male child patient which extraorally manifested as alopecia, scanty eyebrow and eye lashes, frontal bossing, depressed nasal bridge, and full ...
متن کاملPossible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.
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متن کاملA novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia.
X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. It is caused by mutations in the EDA gene, which maps to the X chromosome and encodes a protein called ectodysplasin-A, a member of the tumor necrosis factor-related ligand family. Affected males typically exhibit all the typical features of HED, but heterozygous car...
متن کاملSweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.
X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assigning carrier status to at risk females in XHED families, and in obtaining an ac...
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عنوان ژورنال:
دوره 8 شماره
صفحات -
تاریخ انتشار 2012