Woo-Young Sim

Analysis of the Monocyte Chemoattractant Protein 1 -2518 Promoter Polymorphism in Korean Patients with Alopecia Areata

Monocyte chemoattractant protein-1 (MCP-1) levels are increased in scalp lesions of patients with alopecia areata (AA), suggesting a role in the development of AA. Recently, a biallelic A/G polymorphism in the MCP-1 promoter at position -2518 has been found, influencing the level of MCP-1 expression in response to an inflammatory stimulus. We investigated whether the presence of these polymorphisms were associated with AA in Korean population. 145 Korean patients with AA, 246 healthy subjects without clinical evidence of AA were screened for genotype with a PCR-based assay. In the AA patients the frequency of the A and G alleles was 40.3 and 59.7%, respectively and the distribution of the A/A, A/G and G/G genotypes was 19.3, 42.1 and 38.6%, respectively. Amongst the controls the frequency of the A and G alleles was 39.8 and 60.2%, and the distribution of the A/A, A/G, G/G genotypes in the same group was 17.5, 44.7 and 37.8%, respectively. There was no significant difference in the allele frequencies and genotype distributions between the patients and the controls (p=0.889, p=0.848, respectively). Our data indicates that no association exists between the -2518A/G polymorphism of the MCP-1 gene and susceptibility to alopecia areata.

Analysis of familial factors using the basic and specific (BASP) classification in Korean patients with androgenetic alopecia

BACKGROUND The mechanisms and inheritance of androgenetic alopecia (AGA) have yet to be elucidated. Several clinical studies suggest that a predisposition to AGA is affected by a variety of paternal and/or maternal hereditary factors. No previous study has addressed the association of AGA with family history based on the pattern of hair loss. OBJECTIVES The purpose of this study was to investigate paternal and/or maternal genetic influences in each type of hair loss pattern using the basic and specific (BASP) classification and to explore whether the morphology of AGA tends to be inherited in family members. METHODS Between October 2007 and September 2008, 1220 Korean participants, 998 male and 222 female, were classified according to the BASP classification at 13 university dermatologic centers. Information was collected using a standard questionnaire and BASP classification sheet. RESULTS Parental influences on anterior hairline shape in men were predominantly from the paternal side, whereas these effects were less notable in women. In the absence of a family history, statistical analysis showed a higher frequency for early-onset AGA than late-onset AGA (Pearson χ(2)P < .05). Basic types of hair loss had a higher degree of inheritance from the paternal side of the family, regardless of specific type. LIMITATIONS The evaluation of hair loss pattern and family history was done by the patients. CONCLUSIONS Familial factors affecting the morphology of AGA differ between male and female individuals, and for each type of BASP classification.

Investigations of the efficacy of diphenylcyclopropenone immunotherapy for the treatment of warts.

Diphenylcyclopropenone (DPCP) immunotherapy has been used to treat warts, particularly in patients, such as children, who cannot endure treatment‐related pain and in patients with large numbers of warts. However, the efficacy of DPCP immunotherapy remains subject to much controversy. Specifically, cure rates and treatment durations have varied across reports, primarily because of the lack of large‐scale studies.

Multiple trichofolliculomas on unusual sites: a case report and review of the literature.

Trichofolliculoma is a rare appendageal tumor arising from the hair follicle. According to Kligman and Pinkus, it shows intermediate differentiation between a hair follicle nevus, which is simple hyperplasia of the hair follicle, and a trichoepithelioma, which usually lacks a mature hair follicle. It presents in adults as a papule or nodule, mostly on the face but occasionally on the scalp or neck. Rarely, the external auditory meatus, intranasal area, genital area, lip, and vulva are affected. Until now, trichofolliculoma occurring on the upper extremities had not been reported. Nearly all cases of trichofolliculoma have been reported as a single lesion, although two cases by Nomura and Hata and Cohen and Davis were reported as multiple lesions. Histologically, the characteristic feature of trichofolliculoma is one or more central keratinous cysts with radiating vellus hair follicles. In addition, it can be subdivided into three states, which are early, fully developed, and late stage. In this report, we describe a case of multiple trichofolliculomas that showed late stages of development on unprecedented sites.

Association between interleukin 18 polymorphisms and alopecia areata in Koreans.

Interleukin 18 (interferon gamma-inducing factor) (IL18) is an important proinflammatory cytokine that belongs to the IL1 family. This study investigated whether IL18 single-nucleotide polymorphisms (SNPs) are associated with the susceptibility to alopecia areata (AA) in a Korean population. Two hundred thirty-three AA patients and 243 healthy control subjects were recruited. One promoter SNP (rs187238, -137G/C) and exonic SNP (rs549908, Ser35Ser) in IL18 were genotyped using direct sequencing. SNPStats, SPSS 18.0, and Haploview version 4.2 programs were used to evaluate genetic data. Multiple logistic regression models were used to determine odds ratios, 95% confidence intervals, and P values. Tested 2 SNPs (rs187238 and rs549908) were associated with the development of AA (rs187238, P=0.002 in a codominant model 1, P=0.0048 in a dominant model, P=0.02 in a log-additive model, P=0.023 in allele distribution; rs549908, P=0.003 in a codominant model 1, P=0.0052 in a dominant model, P=0.016 in a log-additive model, P=0.015 in allele distribution). Our data suggest that the IL18 may be a risk factor for AA susceptibility.

Association between TLR1 polymorphisms and alopecia areata

Abstract Toll-like receptors (TLRs) may contribute to the process of autoimmune attacks on hair follicles. To investigate whether the TLR1 gene polymorphisms are associated with the development and clinical features of alopecia areata (AA), a case-control comparison of two single nucleotide polymorphisms (SNPs) (rs4833095, Asn248Ser and rs5743557, −414C > T) of TLR1 were studied in 239 AA patients and 248 controls. Using multiple logistic regression model, odds ratios, 95% confidence intervals and corresponding p values were estimated. Clinical features were analyzed based on the age of onset, family history, type of AA, nail involvement and body hair involvement. The missense SNP rs4833095 was significantly associated with the development of AA (codominant2, p = 0.002; recessive, p = 0.001; log-additive, p = 0.0071; and allele frequency, p = 0.0066). The promoter SNP rs5743557 was weakly associated with the development of AA (codominant2, p = 0.019; recessive, p = 0.032; log-additive, p = 0.020; and allele frequency, p = 0.03). In the clinical features, rs4833095 was only weakly associated with age of onset between 15 and 50 years (codominant2, p = 0.043 and recessive, p = 0.022). The results suggest that rs4833095 of TLR1 may be associated with the susceptibility for AA in the Korean population.

Osteoma Cutis as the Presenting Feature of Albright Hereditary Osteodystrophy Associated with Pseudopseudohypoparathyroidism

Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features as a short stature, round face, obesity, brachydactyly and osteoma cutis. Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder thats characterized by resistance to parathyroid hormone, and PHP is present in most AHO patients. An AHO phenotype without hormonal resistance is called pseudopseudohypoparathyroidism (PPHP). Osteoma cutis is less common in patients with PPHP than in patients with PHP. We present here a case of osteoma cutis as the cardinal manifestation of AHO associated with PPHP. Osteoma cutis is an important sign of AHO and its significance should not be overlooked, even if the patient has normal values on the serum biochemical tests.

Generalized Leukaemia Cutis from a Small Cell Variant of T-cell Prolymphocytic Leukaemia Presenting with Exfoliative Dermatitis

T-cell prolymphocytic leukaemia (T-PLL) is a rare, aggressive neoplasm of mature T lymphocytes. The small cell variant occurs in approximately 20% of T-PLL patients. The skin findings of leukaemia consist of leukaemia-specific skin lesions, which are infiltrated by leukaemia cells, and non-specific lesions. The former type of lesion signifies leukaemia cutis. Leukaemia cutis presents clinically as tumours, nodules, or patches on the scalp, face and trunk. We report here an 82-year-old Korean male patient who presented with erythema, erosion, vesicles, and scales on his entire body with no clear underlying cause. He had been treated with oral retinoids, steroids, and phototherapy for the diagnoses of drug eruption, pityriasis rubra pilaris, and exfoliative dermatitis at other hospitals. We suspected a hidden malignancy and diagnosed small cell variant T-PLL through blood and bone marrow examination. A skin biopsy specimen showed dense infiltration of small lymphocytes in the dermis. Most of the atypical lymphocytes stained positively with CD markers such as CD2, CD3, CD4, CD5, CD7 and CD8, thereby confirming the presence of leukaemia cells. To our knowledge, this is the first case of generalized leukaemia cutis from small cell variant of T-PLL presenting with exfoliative dermatitis over the whole body.

The efficacy and safety of liquid-type botulinum toxin type A for the management of moderate to severe glabellar frown lines.

Background: Botulinum toxin type A has been widely used to correct unwanted hyperfunctional facial lines. Most forms of botulinum toxin type A currently used require reconstitution, which is very inconvenient for users. The authors compared the efficacy and safety of a newly developed liquid-type botulinum toxin type A (MT10109L) and onabotulinumtoxinA (Botox) for moderate to severe glabellar lines. Methods: A double-blind, randomized, active drug–controlled, phase III study with 168 enrolled subjects was performed. The primary efficacy endpoint was the improvement rate at maximum frown at week 4 by the investigators’ live assessment. The secondary efficacy endpoint included the improvement rate at maximum frown at week 16 and at rest at weeks 4 and 16 by live assessment, and the improvement rate at maximum frown and at rest based on photographic assessment at week 4. Self-assessment and self-satisfaction with glabellar line improvement were also evaluated. Results: The improvement rate at maximum frown by live assessment was not significantly different between the MT10109L and Botox groups. In addition, the improvement rate of glabellar lines at rest based on the investigators’ live assessment and photographic assessment was similar in both treatment groups. However, the improvement rate at maximum frown by live assessment at week 16 was significantly higher in the MT10109L group compared with the Botox group. There were no severe adverse events. Conclusions: The efficacy and safety of MT10109L were comparable to those of Botox for the management of glabellar frown lines. MT10109L provides greater convenience because it does not require dilution and has long-lasting effects. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, II.

Association between IL16 gene polymorphisms and susceptibility to alopecia areata in the Korean population

Alopecia areata (AA) is a chronic disease that presents as non‐scarring hair loss. It is thought to be an organ‐specific autoimmune disease characterized by T cell infiltrates and cytokine production around anagen‐stage hair follicles. Interleukin‐16 (IL‐16) is a T cell‐specific chemoattractant known to be associated with autoimmune disease.