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Literature DB >> 32258056

Unusual Clinical Presentation of Autosomal Recessive Woolly Hair.

Osama Alsharif¹, Azhar Abbas Ahmed¹, Azhar Mohammed Alali¹, Adnan Ahmed Kaki¹.

Abstract

Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a rare nonsyndromic hair abnormality characterized by sparse, short, and curly hair. we report a case of a 5-year-old girl from consanguineous parents, who presented with ARWH/H since birth. Dermoscopic findings showed thin sparse hair. Genetic testing showed homozygous mutation in the LPAR6 gene.

Entities: Disease Gene Species

Keywords: Autosomal recessive hypotrichosis; Hair disorder; Hair dysplasia

Year: 2020 PMID： 32258056 PMCID： PMC7109382 DOI： 10.1159/000505134

Source DB: PubMed Journal: Skin Appendage Disord ISSN： 2296-9160

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References

9 in total

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9 in total

Unusual Clinical Presentation of Autosomal Recessive Woolly Hair.

1. [ON A FAMILY WITH THE RECESSIVE TRAIT OF WOOLLY HAIR, HYPOTRICHOSIS AND OTHER ANOMALIES].

2. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.

3. Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis.

4. Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan.

5. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.

6. Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.

7. Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.

8. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family.

9. A case of autosomal recessive woolly hair/hypotrichosis with alternation in severity: deterioration and improvement with age.