Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant genodermatosis characterized by progressive non-scarring hair loss. Mutation of the U2HR gene, located in chromosome 8p21, is generally responsible for MUHH development. Until now, 17 mutations of U2HR have been identified from various ethnic backgrounds, but U2HR mutations have been identified mostly in Chinese families and only one Japanese patient with MUHH among Asian populations. Here, we report the first Korean case of MUHH with a novel heterozygous missense mutation (c.80C>T) in U2HR that has not been documented to date. Genetic analysis further revealed that this mutation is responsible for the hair morphology phenotype presented in this case. This finding contributes to expansion of the mutant spectrum of U2HR, supporting the possibility of racial differences in terms of genetic mutations of MUHH.

Treatment of angiofibromas in tuberous sclerosis complex: the effect of topical rapamycin and concomitant laser therapy.

Facial angiofibromas are the most troublesome cutaneous manifestations of the tuberous sclerosis complex and are difficult to treat. Lasers are most commonly used to treat these skin lesions, but results are disappointing with frequent recurrences. Recently, treatment of facial angiofibromas with topical rapamycin has been reported to yield promising results. We observed the need of laser ablation in addition to topical rapamycin to get best results for the treatment of angiofibromas in 4 cases. The result showed that topical rapamycin ointment was enough when the papules were yet small in size, i.e. less than a few millimeters, but additional laser ablation was needed for large papules approximately larger than 4 mm. Considering the natural course of facial angiofibromas, we believe that topical rapamycin can be best used in childhood patients. In adults, topical rapamycin was useful for treating the still present small papules and for preventing recurrences after laser treatment.

Clinical and histopathological characteristics of extra-facial basal cell carcinoma: analysis of 35 patients at the Chonbuk National University Hospital in Korea.

Basal cell carcinoma (BCC) primarily develops in the head and neck region, with 74-83 per cent of BCC occurring in this region. Unfortunately, most published studies on BCC were conducted in Caucasian populations, and analytic data on extra-facial BCC in Asian and Korean patients, in particular, are not readily available. Here, we report on a retrospective analysis of extra-facial BCC in Korean patients. Thirty-five patients (16 men, 19 women) diagnosed with extra-facial BCC at Chonbuk National University Hospital between January 1981 and December 2008 were evaluated. Their average age was 62.3 years and most of the patients (11 of 35, 31%) were in their fifties. The relative tumour density (RTD) was the highest in the genitalia (0.769), followed by the axilla (0.481). Other regions such as the trunk, buttocks and upper and lower extremities exhibited a much lower RTD (average: 0.1). Histopathological examinations showed that 16 tumours were nodular (46%), eight were superficial (23%) and seven were mixed (20%). Additionally, potential predisposing factors were identified in seven cases. In five patients the use of Asian medicine, including acupuncture and herbal medication, was ascertained. To the best of our knowledge, the present study is the first to analyse the clinical and histopathological characteristics of extra-facial BCC in Korean patients. Our results indicate that the incidence of extra-facial BCC is higher in the axilla and genitalia than at other locations, although these sites are frequently overlooked during routine skin examinations.

Circumscribed alopecia areata incognita.

The characteristic lesion of alopecia areata is a smooth bald patch on the scalp. When there is no bald surface it is called alopecia areata incognita. To date, all cases of alopecia areata reported as so-called 'incognito' have shown a diffuse involvement of the scalp as in acute telogen effluvium. Recently, we have observed two patients who showed localised hair thinning of the scalp without bald spots. Histopathologically, the lesions were typical of alopecia areata with peribulbar lymphocytic infiltrates. The response to corticosteroid treatment and its clinical course were also compatible with alopecia areata.

Basal Cell Carcinoma on the Pubic Area: Report of a Case and Review of 19 Korean Cases of BCC from Non-sun-exposed Areas.

Basal cell carcinoma (BCC) is one of the most commonly diagnosed malignant skin tumors and develops characteristically on sun-exposed areas, such as the head and neck. Ultraviolet light exposure is an important etiologic factor in BCCs, and BCCs arising from non-sun- exposed areas are, therefore, very rare. In particular, the axilla, nipple, the genital and perianal areas are not likely to be exposed to ultraviolet light; thus, if BCC develops in these areas, other predisposing factors should be considered. Herein, we report a case of BCC arising on the pubic area in a 70-year-old man. We also performed a survey of the literature and discussed the 19 cases of BCC from non-sun-exposed areas reported to date in Korea.