Pseudoleukonychia due to Waterproofer of Cement / 대한피부과학회지

No abstract available.

A family of Bart-Pumphrey syndrome.

Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. Two mutations in the extracellular domain of GBJ2 are resposible for this syndrome. To date, less than 10 case reports or clinical series about BPS have been published in the literature. Hearing loss and knuckle pads are the more commonly seen findings of this syndrome. Three generations and six family members with variable findings of knuckle pads, leukonychia, hearing loss and palmoplantar hyperkeratosis were presented in this report. We want to emphasize that dermatogists must be alert during the evaluation of these findings because some findings of this disorder may be vague or absent.

Transverse Leukonychia Associated with Hypothyroidism / 대한피부과학회지

Transverse leukonychia, also termed leukonychia striata, usually occurs in association with trauma, nutritional deficiencies, exposure to toxin, and various combinations of chemotherapy. It also has been reported to be associated with various systemic diseases, including acute infection, myocardial infarction, lymphoma, hepatic failure, renal failure, and systemic lupus erythematosus. A 50-year-old woman with several months' history of nail changes presented with multiple discrete transverse white bands involving the entire width of the nail plates of her fingers. According to the patient's medical history, she had experienced fatigue, constipation, and cold intolerance for 6 months, and antithyroid antibodies were detected before noticing these nail changes. The patient was diagnosed as having an autoimmune hypothyroidism. Repeated KOH microscopic examination did not demonstrate fungal infection. We diagnosed this case as transverse leukonychia associated with hypothyroidism. This case report underlines the possible association of transverse leukonychia with hypothyroidism.

In Silico Study of Human Gap Junction Beta-2 Protein by Homology Modeling

Asp66his, Asp54Lys, and Asp50Asn are mutations in connexin 26 that are observed in the clinic and give rise to autosomal dominant syndromes. They are the result of point mutations in the human gap junction beta-2 gene. In order to investigate the structural mechanism of Bart-Pumphrey Syndrome, Keratitis-Ichthyosis-Deafness Syndrome, and Vohwinkel Syndrome, homology modeling was carried out. Asp66 has direct contact with Asn62 by two hydrogen bonds in the wild-type protein, and in Asp66His, the biggest change observed is a tremendous energy increase caused by hydrogen bond breakage to Asn62. Shifts in the side chain and new hydrogen bond formation are observed for Lys54 compared to the wild-type protein (Asn54) and result in closer contact to Val84. Asp50Asn causes a significant decrease in bond energy, and residual charge reversal repels the ion and metabolites and, hence, inhibits their transportation. Such perturbations are likely to be a factor contributing to abnormal functioning of ion channels, resulting cell death and disease.

A Case of a Family with Knuckle Pads, Deafness and Palmoplantar Hyperkeratosis / 대한피부과학회지

The syndrome with knuckle pads, leukonychia, deafness and palmoplantar hyperkeratosis have been presented by several previous reports since the Bart and Pumphrey's report. This syndrome is that inheritance pattern is autosomal dominant trait. We report a case of a family with hereditary progressive palmoplantar hyperkeratosis, which is invariably associated with knuckle pads and a progressive mixed hearing loss. We think that these traits may not be inherited as an autosomal dominant trait because affected members of the family are all female but may be possibly autosomal dominant. The difference with other previous reports is that all members of the family don't have leukonychia. Therefore, we suggest that this is another variant case of this syndrome.

Nail Abnormalities in Alopecia Areata / 대한피부과학회지

BACKGROUND: Nail abnormalities may be associated with alopecia areata and nail abnormalities in alopecia areata are reported to range from 10%-66%. OBJECTIVES: This study investigates the clinical characteristics of nail abnormalities in alopecia areata, such as prevalence depending on sex, age and severities of hair loss. METHODS: Prospective analysis was undertaken by examining the finger nails of 424 alopecia areata patients and the nails of 465 non-alopecic patients were examined as controls. RESULTS: The number of the patients was 424(214 males, 210 females) and their mean age was 28.6 years (range 1-69). Nail abnormalities were noted in 98 (23.1%) out of 424 patients and in 24 (5.1%) out of 465 controls. According to age group, the prevalence of nail abnormalities was high at age under 9(31.7%) and at age of 10-19 (31.6%). The incidence according to severity of hair loss was 20.8% in below 50% of hair loss on scalp, 27.8% in 51%-100% of hair loss on scalp and 41.5% in 51%-100% of hair loss on the scalp and also involving body hair. The Frequent nail abnormalities were leukonychia punctata (8.5%) and pitting nail(8.0%). The other minor nail abnormalities were onychorrhexis, transverse ridging, trachyonychia, melanonychia, abnormality of lunula, onycholysis and koilonychia. CONCLUSIONS: The incidence of nail abnormalities in alopecia areata was significantly higher than in controls and the nail abnormalities were more common in children. The more severe was the degree of alopecia, the higher was the prevalence of nail abnormalities. Leukonychia punctata and pitting nail were frequently found in alopeica areata in Korea. The examination of nail in alopecia areata patients may be helpful in expectation of prognosis.