CLINICAL PRESENTATION OF AN EXTENDED CONSANGUINEOUS FAMILY INHERITING WOOLLY HAIR HYPOTRICHOSIS
نویسندگان
چکیده
منابع مشابه
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Autosomal recessive hypotrichosis simplex with woolly hair is a rare dermatological disorder, characterized by sparse hair and tightly curled hair. We report on a new family affected with this disorder which has not previously been reported. In this family, 2 siblings were affected. We believe that the disorder is not rare, but is possibly misdiagnosed, and hence underreported.
متن کاملA novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair
Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. We report herein on five consanguineous families from Pakistan segregating hypotrichosis and woolly hair. Genetic investigation using polymorphic microsatellite markers revealed homozygosity for a region spanning the HYPT7 locus on chromosome 3 in affected individuals of all five families. Seq...
متن کاملWoolly 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...
متن کاملAutosomal 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 ...
متن کاملFamilial 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 ...
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ژورنال
عنوان ژورنال: Gomal Journal of Medical Sciences
سال: 2018
ISSN: 1997-2067,1819-7973
DOI: 10.46903/gjms/16.01.1895