Gene mapping study for constitutive skin color in an isolated Mongolian population

To elucidate the genes responsible for constitutive human skin color, we measured the extent of skin pigmentation in the buttock, representative of lifelong non-sun-exposed skin, and conducted a gene mapping study on skin color in an isolated Mongolian population composed of 344 individuals from 59 families who lived in Dashbalbar, Mongolia. The heritability of constitutive skin color was 0.82, indicating significant genetic association on this trait. Through the linkage analysis using 1,039 short tandem repeat (STR) microsatellite markers, we identified a novel genomic region regulating constitutive skin color on 11q24.2 with an logarithm of odds (LOD) score of 3.39. In addition, we also found other candidate regions on 17q23.2, 6q25.1, and 13q33.2 (LOD > or = 2). Family-based association tests on these regions with suggestive linkage peaks revealed ten and two significant single nucleotide polymorphisms (SNPs) on the linkage regions of chromosome 11 and 17, respectively. We were able to discover four possible candidate genes that would be implicated to regulate human skin color: ETS1, UBASH3B, ASAM, and CLTC.

Physiological Characteristics of Skin of Normal Mongolian Subjects Determined by Non-invasive Bioengineering Methods / 대한피부과학회지

BACKGROUND: Physiological parameters of the skin measured by non-invasive methods have been considerably developed. It is known that there are some differences in physiologic parameters between different races. OBJECTIVE: The purpose of this study is to understand the differences between the races. METHODS: A total of 757 Mongolian participated in this study. All subjects had no major history of skin diseases requiring medical treatment. Several instruments were used such as Sebumeter, Corneometer, Mexameter for measuring sebum excretion rate, values of capacitance, melanin index and erythema index respectively. These were measured on various areas of the skin such as cheek, forehead, palm, outer arm, inner arm, back and buttock. RESULTS: The sebum excretion rates showed higher in males than in females on the cheek and forehead in Mongolian. However, they showed higher in the females on the palm. There were good correlation between the skin sebum level and the capacitance in males and females. The melanin index and erythema index showed higher in males than in females at all sites. When we compared this with the data published in other countries, many data were similar to Korean rather than a western country's. However, the capacitance data were lower than those of Korean. CONCLUSION: Although, this study has some limit for direct comparison between each race, our results can be used as basic data for the comparison between Mongolian and other races in the future.

A Case of Posttraumatic Ectopic Nail / 대한피부과학회지

Ectopic nail is characterized by growth of nail-like tissue in a location other than the nail bed. It is an extremely rare disorder that can be either congenital or acquired from incidents such as trauma. An 8-year old female presented with a complaint of a nail-like lesion on the dorsal surface around the center of the right fifth toe. It had been present for 3 years, while the patient continuously clipped it upon growth. The fifth toe was initially injured by a chair that had fallen on that toe 4 years prior to her visit. There was no associated bony deformity or other physical changes in the nail. A clinical diagnosis of ectopic nail was made and it was surgically excised under local anesthesia. The histopathological examination revealed a normal nail unit and there was no recurrence during the 6 month follow-up period.

Clinical Effects of Oral Naproxen for the Treatment of Eosinophilic Pustular Folliculitis / 대한피부과학회지

BACKGROUND: Eosinophilic pustular folliculitis (EPF) is characterized by erythematous patches of follicular papules and pustules that mainly involve the face. Although various treatments have been attempted for EPF, including systemic and topical steroids, dapsone and indomethacin, there is no consensus on the first choice for treatment. OBJECTIVE: The purpose of this study was to evaluate the clinical efficacy and safety of naproxen treatment for EPF patients. METHODS: We retrospectively reviewed the clinical records of 16 biopsy-proven EPF patients who were treated with naproxen. Initial dose of oral naproxen was 500 mg to 1,000 mg. Therapeutic effects were evaluated by 3 grades: NR (no response), PR (partial remission, >50% improvement), CR (complete remission). RESULTS: Of the 16 EPF patients, 11 patients (69%) showed either complete remission (50%) or partial remission (19%). The median time to response for good responders (CR+PR) was 1.5 weeks. Two patients (13%) had mild gastrointestinal side effects, such as indigestion, but the symptoms disappeared soon after use of a gastrointestinal protectant. CONCLUSION: Oral naproxen may be an effective and safe treatment modality for EPF.

Five Cases of Cutaneous Polyarteritis Nodosa Treated with Dapsone / 대한피부과학회지

Cutaneous polyarteritis nodosa (PAN) is a benign form of vasculitis of small and medium-sized arteries with chronic benign course without systemic involvement. Corticosteroids are the mainstay of treatment for cutaneous PAN but aspirin and non steroidal anti-inflammatory drugs (NSAIDs) are also used for conservative treatment. We treated five patients with cutaneous PAN using oral dapsone. All patients initially showed good response to dapsone, but exacerbation occurred once the dose of dapsone was tapered or stopped. Patients had mild side effects of dapsone which were hemolytic anemia (4 cases) and abnormal liver function (2 cases). No patient has developed major organ system involvement during 1 to 13 years of follow-up. Instead of using oral Corticosteroid, oral dapsone may be an effective and relatively safe alternative therapy for chronic benign cutaneous PAN.

Three Cases of Porokeratosis of Mibelli Treated with 5% Imiquimod Cream / 대한피부과학회지

Porokeratosis is a disorder of epidermal keratinization that is histologically characterized by the presence of cornoid lamella. Many treatment modalities have been used, such as, surgical excision, cryosurgery, CO2 laser, oral etretinate, topical 5-fluorouracil and keratolytics. However, universal treatment guidelines have never been established. We tried 5% imiquimod cream on three patients who have porokeratosis of Mibelli which are intractable to other previous treatment modalities. Two of them showed a marked and moderate improvement, respectively. But the third patient exhibited only slight response. Herein we report our treatment experience and review the related literature.

A Case of Acneiform Eruption and Paronychia Occurring after Use of Erlotinib (Tarceva(R)) / 대한피부과학회지

Erlotinib (Tarceva(R)) is a new anti-cancer agent which acts by inhibiting epidermal growth factor receptor (EGFR) signal transduction. It is currently used in the treatment of advanced stage non-small cell lung cancer and pancreatic cancer. We report a case of acneiform eruption and paronychia induced by erlotinib in a 69-year-old man. The patient visited our clinic with multiple erythematous papules and pustules on the face, periungual erythema and pus discharge, xerosis, fissures on the sole. He had taken erlotinib for the treatment of recurred lung cancer for 4 weeks. The skin lesions were partially improved with oral pyridoxine, corticosteroid and topical antibiotics.