Twisted tressess: a rare case series of familial woolly hair

Familial woolly hair disease.

J Balaji and P Amutha Rajeshwari, Institute of Child Health and Research Centre, Government Rajaji Hospital and Madurai Medical College, Madurai. Tamil Nadu, India. [email protected] FIG.1 A child with Hypomelanosis of Ito showing multiple whorled like hypopigmented lesions present over abdomen, chest and back. FIG.2 Fundus showing pale disc, tortous vessels around the disc, radial patchy ...

A case of woolly hair naevus.

Woolly hair

Keywords Disease name Included diseases Definition and diagnosis criteria Differential diagnosis Frequency Clinical description Management and treatment Etiology Diagnostic methods Genetic counseling Unresolved questions References Abstract Woolly hair is a rare congenital abnormality of structure of scalp hair. It is marked by extreme kinkiness of hair in Caucasians. Woolly hair is either alre...

Familial Hypodontia: A Case Series.

The phenomenon of congenitally missing teeth has been described with different names: hypodontia, oligodontia, anodontia, congenitally missing teeth and dental agenesis. The present paper reports familial hypodontia, involving two siblings from a single family. Case I reported the absence of 18, 12, 22 and 31 teeth whereas case II reported the absence of 31 and 41. On the evaluation of the two ...

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

Pure hair and nail ectodermal dysplasia (PHNED) comprises a heterogeneous group of rare heritable disorders characterized by brittle hair, hypotrichosis, onychodystrophy and micronychia. Autosomal recessive (AR) PHNED has previously been associated with mutations in either KRT85 or HOXC13 on chromosome 12p11.1-q14.3. We investigated a consanguineous Pakistani family with AR PHNED linked to the ...