Clouston�s hidrotic ectodermal dysplasia
نویسندگان
چکیده
منابع مشابه
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.
Hidrotic ectodermal dysplasia (HED), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is characterized by hair defects, nail dystrophy and palmoplantar hyperkeratosis. Biophysical and biochemical studies conducted in HED suggested a molecular abnormality of keratins. We tested eight French-Canadian families segregating HED for link...
متن کاملHidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review.
We report two families with the Witkop "tooth and nail syndrome". This term is a misnomer, as the hair was mildly involved in the original case reports and in the families reported here.
متن کاملConnexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
Clouston syndrome or hidrotic ectodermal dysplasia (HED) is a rare dominant genodermatosis characterized by palmoplantar hyperkeratosis, generalized alopecia and nail defects. The disease is caused by mutations in the human GJB6 gene which encodes the gap junction protein connexin30 (Cx30). To gain insight into the molecular mechanisms underlying HED, we have analyzed the consequences of two of...
متن کاملCongenital Ectodermal Dysplasia
Two cases of phenotypically similar ectodermal dysplasia characterised by reduction of hair, diminished sweat pores, missing teeth and somewhat cracked and abnormal skin were studied to understand the genetic basis of this disorder with the help of pedigrees. The mode of inheritance in one case was suggested to be x-linked where as in the other case it was autosomal recessive. (JPMA 35 225, 1985).
متن کاملHypohidrotic ectodermal dysplasia.
X linked hypohidrotic ectodermal dysplasia was studied in the dentition of both affected males and carrier females. Hypodontia was more severe in males than females and there were differences in the pattern of tooth absence between the sexes. Abnormal crown form, with the maximum diameter of the teeth being apically displaced, was noted particulady in the anterior teeth. Taurodontism was common...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pan African Medical Journal
سال: 2018
ISSN: 1937-8688
DOI: 10.11604/pamj.2018.29.105.14935