Detection of a Novel Missense Mutations in Atrichia with Papular Lesions

BACKGROUND: Atrichia with papular lesions (APL) is a rare inherited disease characterized by early onset of total hair loss, followed by papular lesions over the extensor areas of the body. Recently, mutations in the human hairless (HR) gene have been implicated in its pathogenesis. The identification of mutations in the HR gene is important for differentiating between APL and alopecia universalis (AU). OBJECTIVE: We compared the HR genes of patients with presumed AU who showed minimal or no response to treatment with the HR genes of healthy controls. METHODS: The subjects were 11 patients with presumed AU who had not responded to treatments. Fifty healthy people were included as controls for molecular analysis. To screen for mutations, polymerase chain reaction was performed. RESULTS: DNA analysis identified a novel heterozygous G-to-A transition at nucleotide position 191 in exon 5. The mutation was not found in the controls, other AU patients, or any unaffected family members except for the patients' mother and maternal grandfather, who were heterozygous HR gene carriers. CONCLUSION: Our study identifies a novel missense mutation in exon 5 of the HR gene in a Korean APL patient previously diagnosed as AU.

A Clinical Study of Androgenetic Alopecia / 대한피부과학회지

BACKGROUND: Androgenetic alopecia (AGA) is one of the most common type of alopecia among all men and women after puberty. The number of patients with AGA appears to be gradually increasing. OBJECTIVES: The purpose of this study was to investigate the clinical status such as age, family history, and type of patients with AGA and to review recent Korean literature. METHODS: 1500 patients with AGA who had visited the Department of Dermatology, Busan Paik Hospital, Inje University School of Medicine during the last 7 years (from May 1997 through December 2003) were examined through the clinical records. RESULTS: 1) There were 1162 male and 338 female patients being most prevalent in the third decade in both sexes. 2) In males AGA, Norwood-Hamilton's type II was the most common. 3) In females AGA, Ludwig's type I was the most common. 4) There was a family history of baldness in 62.9% of relatives in male patients and 48.8% in female patients. 5) The largest number of patients with AGA first visited our department when they had had 1-5 year's history of AGA in both sexes. 6) In the management of male AGA, oral finasteride only or with topical medications was the most common (72.4%) treatment modality. 7) In the management of female AGA, topical minoxidil solution only or with other topical medications was the most common (78.7%) treatment modality. CONCLUSIONS: The proportion of young patients with mild types appears to be high among AGA patients. It might be largely due to psychological stress in social situations.