Association study between nonsense polymorphism (rs2039381, Gln71Stop) of interferon-ε and susceptibility to vitiligo in Korean population.

Interferons (IFNs) are related to autoimmune responses. IFN-epsilon (IFNE) is included in IFN family, and may modulate immunological functions. Inflammation modulating functions of IFNE may be related with the pathophysiology of vitiligo. To investigate the association of nonsense polymorphism (rs2039381, Gln71Stop) of interferon-ε (IFNE) and susceptibility to vitiligo, we conducted a case-control association study in 265 non-segmental vitiligo (NSV) patients and 320 healthy controls. The nonsense single nucleotide polymorphism (SNP) (rs2039381, Gln71Stop) of IFNE was genotyped by direct sequencing. Multiple logistic regression models (log-additive, dominant, and recessive models) were applied to determine odds ratios (OR), 95% confidence interval (CI), and p values. The rs2039381 (Gln71Stop) of IFNE did not show significant differences between NSV patient group and control group. However, we found that in childhood onset NSV groups, the IFNE nonsense polymorphism (rs2039381, Gln71Stop) showed a significant association. There was significantly different distribution of nonsense polymorphism of rs2039381 (Gln71Stop) of IFNE between NSV patients (childhood <18 years) and control subjects. This study suggests that rs2039381 (Gln71Stop) polymorphism of IFNE may be related to onset time of vitiligo in NSV patients.

Association between IL17A/IL17RA Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population.

BACKGROUND: Alopecia areata is marked by autoimmune assault on the hair follicle resulting in hair loss. T helper 17 cell subset has important roles in protecting the host against extracellular pathogens, however, also promotes inflammatory pathology in autoimmune disease, and it expresses both interleukin (IL)-17A and IL-17F, which can signal via the IL-17 receptor A. OBJECTIVE: To investigate the significance of IL17A and IL17RA gene polymorphisms in the susceptibility to alopecia areata. METHODS: We conducted case-control association study of 238 alopecia areata patients and 270 matched healthy controls. Allele frequency of total 2 single nucleotide polymorphims in the IL17A gene and 4 single nucleotide polymorphims in the IL17RA gene were studied. The statistical analyses were performed according to onset age, the presence of familyhistory, clinical subtypes, and presence of nail involvement or body hair involvement. RESULTS: One single nucleotide polymorphim (rs879577) of IL17RA gene showed significant difference between alopecia areata patients group and controls group (p= 0.0288). One single nucleotide polymorphim (rs4819554) of IL17RA gene showed significant difference between the early onset and late onset alopecia areata (p=0.0421). CONCLUSION: IL17RA gene polymorphism might contribute to the increased susceptibility to alopecia areata in Korean population, and IL17RA gene polymorphism may be associated with onset age.

Eccrine porocarcinoma presenting with unusual clinical manifestations: a case report and review of the literature.

Eccrine porocarcinoma is a rare neoplasm that originates from the intraepidermal ductal portion of the eccrine sweat gland, and it usually occurs on the pre-existing lesion of benign eccine poroma. Its occurrence is more common in females and elderly persons. We present a case of a 44-year-old man who suffered from eccrine porocarcinoma, which developed on the right scrotum and pelvic area with metastases to the lung, adrenal gland, esophagus, ureter, and distant lymph nodes. Here we report on a unique case of eccrine porocarcinoma that developed primarily on the scrotum, which is an uncommon site, and showed rapid metastasis to the internal organs.

Subungual exostosis treated with an in situ thin split-thickness toenail bed graft.

Subungual exostosis is a slow-growing, benign outgrowth of normal bone or calcified cartilaginous remains of the distal phalanx. Complete surgical excision of lesions, including the cartilaginous cap, is a unique curative method. An 18-year-old male presented with a protruding papule on the right great toenail. Diagnosis of subungual exostosis had been established and complete excision was performed. In addition, an in situ thin split-thickness toenail bed graft was used to cover the defect. At 6 months after excision, the patient had no complaint of recurrence or pain. We report on a unique trial case of subungual exostosis treated with thin split-thickness nail bed grafts taken from the adjacent normal nail bed of the affected toe.

Treatment effects of intradermal botulinum toxin type A injection on alopecia areata.

BACKGROUND: There are several different treatment options for alopecia areata (AA); Botulinum toxin type A (BTXA) can induce changes in neurotransmitter levels, directly or via neuroimmunologic mechanisms. Therefore it is thought that BTXA may influence cytokines that are responsible for hair growth arrest that characterizes AA. OBJECTIVES: To prospectively examine the safety and efficacy of BTXA injections for the treatment of patients with AA of the scalp. METHODS AND MATERIALS: Seven patients with AA received 10 U of BTXA intradermal injections on each site three times. Subjects were classified according to the extent of scalp hair loss into Severity of Alopecia Tool subclasses. RESULTS: Two patients had one patch of AA; the remaining patients had total or universal type AA. One patient dropped out of the study after experiencing spontaneous recovery from her AA. One patient reported aggravation of her AA after BTXA injections. The remaining patients' AA did not change after BTXA injections. CONCLUSION: Our results suggest that BTXA injection cannot be used as an alternative treatment for recalcitrant AA. Nevertheless, future studies concerning the treatment efficacy of BTXA for mild to moderate AA are warranted.

Clinical study of repigmentation patterns with either narrow-band ultraviolet B (NBUVB) or 308 nm excimer laser treatment in Korean vitiligo patients.

BACKGROUND: Various repigmentation patterns such as perifollicular, marginal, diffuse, and mixed configuration can occur in vitiligo. The aim of this study was to clinically assess the types of repigmentation patterns obtained with narrow-band ultraviolet B (NBUVB) phototherapy or targeted phototherapy using a 308 nm excimer laser and to reveal whether the repigmentation patterns have any relationship to the location of lesions, patient's age, duration of lesions, or speed of improvement. METHODS: This study enrolled 51 patients who had effective responses as compared with baseline when treated with NBUVB alone and 52 patients who had effective responses as compared with baseline when treated with excimer laser alone. We evaluated the repigmentation patterns when the responses to treatments appeared. RESULTS: The most frequent repigmentation pattern was the perifollicular type in both groups treated with NBUVB (42.2%) or excimer laser (51.3%), followed by marginal, diffuse, and combined, in that order. There was no significant difference in the repigmentation pattern according to the location of lesions, patient's age, or duration of lesions. The marginal pattern was predominant in both NBUVB and excimer laser-treated groups when excellent responses (more than 75% repigmentation achieved at 12 weeks) appeared. CONCLUSIONS: The repigmentation patterns according to location, age, duration of lesions, and speed of response showed similarities in both the NBUVB and excimer laser-treated groups.

The effects of placental extract on fibroblast proliferation.

Human placental extract is used in the treatment of skin wrinkles and wounds. To date, no studies have evaluated the effects of placental extract on dermal fibroblast proliferation. To investigate the effects of placental extract versus ascorbic acid on fibroblast proliferation and transforming growth factor (TGF)-beta1 expression, cultured human fibroblasts were treated with placental extract (0, 0.08, 0.16, 0.32, and 0.64%) or L-ascorbic acid-2-phosphate magnesium (0, 0.01, 0.1, 1.0, and 10 mM). Fibroblast proliferation was determined by MTT assay, and TGF-beta1 protein expression was analyzed by ELISA. The proliferation of fibroblasts increased significantly after treatment with placental extract at concentrations of 0.32 and 0.64% and with L-ascorbic acid-2-phosphate magnesium at concentrations of 1.0 and 10 mM. Placental extract demonstrated no significant effects on TGF-beta1 expression; however, TGF-beta1 expression significantly increased after treatment with ascorbic acid at concentrations of 1.0 and 10 mM. Placental extract and ascorbic acid had similar effects on fibroblast proliferation; however, placental extract did not significantly increase TGF-beta1 protein expression.

The Effect of Gromwell (Lithospermum erythrorhizon) Extract on the Stratum Corneum Hydration and Ceramides Content in Atopic Dermatitis Patients.

BACKGROUND: A disruption of the balance between the water content of the stratum corneum (SC) and skin surface lipids may lead to the clinical manifestation of dryness of skin in patients with atopic dermatitis (AD). OBJECTIVE: To determine whether supplementation of gromwell (Lithospermum erythrorhizon), one of herbs used in East Asia in remedies for various abnormal skin conditions, may improve the SC level of hydration and ceramides, major lipid in SC in patients with AD. METHODS: A total of 28 subjects with AD were randomly assigned into two groups: either gromwell group received dextrose contained capsules with 1.5 g of gromwell extracts or placebo group received only dextrose contained capsules for 10 weeks. RESULTS: In contrast to no alteration of SC hydration and ceramides in placebo group, the SC hydration in gromwell group was significantly increased in parallel with an increase of SC ceramides. Furthermore, % increase of SC hydration in gromwell group bore a positive correlation with the clinical severity, which suggests that the increase of SC hydration in gromwell group was more effective as AD was more severe. CONCLUSION: Supplementation of gromwell improves SC hydration in parallel with an increase of ceramides in part.

A study on altered expression of serine palmitoyltransferase and ceramidase in psoriatic skin lesion.

Ceramides are the main lipid component maintaining the lamellae structure of stratum corneum, as well as lipid second messengers for the regulation of cellular proliferation and/or apoptosis. In our previous study, psoriatic skin lesions showed marked decreased levels of ceramides and signaling molecules, specially protein kinase C-alpha (PKC-alpha) and c-jun N-terminal kinase (JNK) in proportion to the psoriasis area and severity index (PASI) scores, which suggested that the depletion of ceramide is responsible for epidermal hyperproliferation of psoriasis via downregulation of proapoptotic signal cascade such as PKC-alpha and JNK. In this study, we investigated the protein expression of serine palmitoyltransferase (SPT) and ceramidase, two major ceramide metabolizing enzymes, in both psoriatic epidermis and non-lesional epidermis. The expression of SPT, the ceramide generating enzyme in the de novo synthesis in psoriatic epidermis, was significantly less than that of the non-lesional epidermis, which was inversely correlated with PASI score. However, the expression of ceramidase, the degradative enzyme of ceramides, showed no significant difference between the lesional epidermis and the non-lesional epidermis of psoriatic patients. This might suggest that decreased expression of SPT protein is one of the important causative factors for decreased ceramide levels in psoriasis.

Majocchi's granuloma of the scrotum.

Majocchi's granuloma is a well known but uncommon folliculitic and perifolliculitic dermatophyte infection of the dermal and subcutaneous tissue by fungal organism, usually limited to the superficial dermis. We report a rare case of superficial perifollicular form of Majocchi's granuloma, caused by Trichophyton rubrum on the scrotal skin of a healthy man. Histological examination of the biopsied nodule revealed perifolliculitis with fungal elements and the periodic acid schiff staining was positive to fungal elements. His lesion cleared completely with the use of a topical antifungal agent.