This Article  • Full text  • PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on ISI (12)  • Contact me when this article is cited  Related Content  • Related article  • Similar articles in this journal  Topic Collections  • Dermatologic Disorders  • Hair Disorders  • Genetics  • Genetic Disorders  • Alert me on articles by topic  Social Bookmarking   What's this?

A Clinical and Molecular Study

Valérie Chapalain, MD; Hermelita Winter, PhD; Lutz Langbein, PhD; Jean-Michel Le Roy, MD; Christine Labrèze, MD; Milos Nikolic, MD; Jürgen Schweizer, PhD; Alain Taïeb, MD

Arch Dermatol. 2002;138:501-506.

Objectives  To report the clinical features of the loose anagen hair syndrome and to test the hypothesis that the typical gap between the hair and the inner root sheath may result from hereditary defects in the inner root sheath or the apposed companion layer.

Design  Case series.

Setting  A pediatric dermatology unit (referral center).

Patients  A consecutive sample of 17 children (13 girls). For 9 of them and their first-degree relatives, molecular analyses were performed in the K6HF gene with 50 appropriate controls.

Intervention  Minoxidil therapy (5% lotion) in 11 patients for 1 to 12 months.

Main Outcome Measures  Clinical and follow-up features and determination of mutations in the K6HF gene.

Results  Most patients had easily pluckable hair with no sign of scalp inflammation or scarring. Ten patients seldom cut their hair, and 4 had unmanageable hair. One patient had hypodontia. Two patients had an additional clinical phenotype of diffuse partial woolly hair. The family history was positive for loose anagen hair syndrome in 5 patients. Marked improvement was noted after treatment with 5% minoxidil lotion in 7 of the 11 patients treated. Polymerase chain reaction analysis of the gene segments encoding the -helical 1A and 2B subdomains of K6hf, the type II cytokeratin exclusively expressed in the companion layer, was performed in 9 families. In 3 of these 9 families, a heterozygous glutamic acid and lysine mutation, E337K, was identified in the L2 linker region of K6HF.

Conclusions  Diffuse partial woolly hair can be associated with loose anagen hair syndrome. A keratin mutation, E337K in K6HF, was possibly causative in 3 of the 9 families studied. Another keratin, and possibly the type I partner of K6hf, could be responsible for loose anagen hair syndrome in other patients, or the gene involved may be a minor gene.

From Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, Bordeaux, France (Drs Chapalain, Le Roy, Labrèze, and Taïeb); the German Cancer Research Center, Heidelberg, Germany (Drs Winter, Langbein, and Schweizer); and the Department of Dermatology, University Hospital, Belgrade, Yugoslavia (Dr Nikolic). Dr Taïeb is now with the Service de Dermatologie, Hôpital St André, Bordeaux, France.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?

RELATED ARTICLE

Loose Anagen Hair Syndrome and Loose Anagen Hair
Antonella Tosti and Bianca Maria Piraccini
Arch Dermatol. 2002;138(4):521-522.
EXTRACT | FULL TEXT  

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Intermediate Filament Proteins and Their Associated Diseases
Omary et al.
NEJM 2004;351:2087-2100.
FULL TEXT  

A Small Deletion Hotspot in the Type II Keratin Gene mK6irs1/Krt2-6g on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
Kikkawa et al.
Genetics 2003;165:721-733.
ABSTRACT | FULL TEXT  

Loose Anagen Hair Syndrome and Loose Anagen Hair
Tosti and Piraccini
Arch Dermatol 2002;138:521-522.
FULL TEXT