Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26

Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing loss with or without skin manifestations. A 3-yr-old Korean female and her mother presented to our clinic with diffuse hyperkeratosis of the palms and soles (May 3, 2007). Skin biopsies from the soles of both patients demonstrated histopathological evidence of palmoplantar keratoderma. The patient and a number of her maternal family members also had congenital hearing loss. The combination of congenital hearing loss and palmoplantar keratoderma, inherited as an autosomal dominant trait, led us to test for a mutation in the GJB2 gene in both patients. The results showed the R75W mutation of the GJB2 gene in both. In conclusion, the simultaneous occurrence of a GJB2 mutation in a mother and daughter suggests that R75W mutation cause autosomal dominant hearing loss presenting with palmoplantar keratoderma. To the best of our knowledge, this is the first report of a GJB2 mutation associated with syndromic autosomal dominant hearing loss and palmoplantar keratoderma in a Korean family.

Psychosocial Aspects of Acne Vulgaris: A Community-based Study with Korean Adolescents

BACKGROUND: Acne vulgaris is a distressing condition that affects the majority of adolescents, but the impact of acne vulgaris on the psychological aspects in this age group is poorly understood. OBJECTIVE: The purpose of this study was to determine the prevalence of acne, and the level of emotional, social, and functional impairments among Korean adolescents with acne. METHODS: Five hundred four middle school students (13~16 years) participated. The severity of acne was graded by visual examination using the Korean Acne Grading System. Self-reported questionnaires, including subjective acne severity rating, the Self Image Questionnaire, the Rosenberg Self-Esteem Questionnaire, the Index of Peer Relations, and the Beck Depression Inventory were used to assess psychologic status. RESULTS: There was a prevalence of acne in 78.9% of the study samples, with 10.2% of students having moderate-to-severe acne. Acne was more prevalent and severe in boys than girls. Participants with severe acne and girls had higher levels of emotional and social impairments. The longer the acne persisted, the more stress the students felt. The degree of stress and extent of self-image impairment were related to subjective severity more than objective grading. CONCLUSION: Acne is a common disorder among Korean adolescents and appears to have a considerable impact on mental health. Dermatologists should be aware of the importance of basic psychosomatic treatment in conjunction with early medical, educational intervention in the management of acne.

Psychosocial Aspects of Acne Vulgaris: A Community-based Study with Korean Adolescents

BACKGROUND: Acne vulgaris is a distressing condition that affects the majority of adolescents, but the impact of acne vulgaris on the psychological aspects in this age group is poorly understood. OBJECTIVE: The purpose of this study was to determine the prevalence of acne, and the level of emotional, social, and functional impairments among Korean adolescents with acne. METHODS: Five hundred four middle school students (13~16 years) participated. The severity of acne was graded by visual examination using the Korean Acne Grading System. Self-reported questionnaires, including subjective acne severity rating, the Self Image Questionnaire, the Rosenberg Self-Esteem Questionnaire, the Index of Peer Relations, and the Beck Depression Inventory were used to assess psychologic status. RESULTS: There was a prevalence of acne in 78.9% of the study samples, with 10.2% of students having moderate-to-severe acne. Acne was more prevalent and severe in boys than girls. Participants with severe acne and girls had higher levels of emotional and social impairments. The longer the acne persisted, the more stress the students felt. The degree of stress and extent of self-image impairment were related to subjective severity more than objective grading. CONCLUSION: Acne is a common disorder among Korean adolescents and appears to have a considerable impact on mental health. Dermatologists should be aware of the importance of basic psychosomatic treatment in conjunction with early medical, educational intervention in the management of acne.

A Case of Vitiligo in a Hepatitis C Patient after Pegylated Interferon Treatment / 대한피부과학회지

The use of pegylated interferon (PEG-IFN) and ribavirin is considered standard therapy for patients with chronic hepatitis C. The treatment has been linked with a number of dermatologic manifestations such as alopecia, skin rash, pruritus, injection site inflammation and occasionally, with vitiligo. We report a case of vitiligo that occurred during treatment with PEG-IFN and ribavirin in a hepatitis C patient. The autoimmune adverse effects of IFN therapy should be considered in the treatment of vitiligo in such patients.

Expression of Macrophage Migration Inhibitory Factor in Behcet's Disease / 대한피부과학회지

BACKGROUND: Macrophage migration inhibitory factor (MIF) is a unique protein, participating in inflammation, immune response, and cell growth. Previous reports showed that MIF-polymorphisms are associated with an increased risk for various inflammatory diseases. OBJECTIVE: This study was designed to investigate the effect of MIF polymorphisms on Behcet's disease (BD). METHODS: A total of 362 patients with BD and 290 healthy controls were genotyped. We also performed RT-PCR analysis, ELISA, and immunohistochemical stain for MIF. RESULTS: We could not find statistically significant differences in the genotype frequencies of the MIF-794[CATT]5-8 repeat polymorphism or MIF-173 G>C polymorphism between BD patients and controls. Immunohistochemical analysis showed that MIF protein was diffusely distributed throughout epidermis and subcutaneous fat tissue from the skin lesions of patients with BD and erythema nodosum. CONCLUSION: Contrary to earlier reports, serum MIF levels were decreased in patients with BD, and the prescence of polymorphisms in the MIF promoter region was not associated with disease susceptibility. Nevertheless, MIF may play a role in cutaneous inflammation in BD.

A Case of Multiple Basaloid Follicular Harmatoma / 대한피부과학회지

Basaloid follicular hamartoma (BFH) is a benign adnexal tumor with a wide spectrum of clinical appearance and is characterized histologically by the presence of branching cords and thin strands of undifferentiated anasomosing, basaloid proliferations that are embedded in a fibrous stroma. We report the case of a 4-year-old boy with multiple BFH. To our knowledge, this is the first case report of multiple BFH in the Korean literature.

A Case of Reticulate Acropigmentation of Dohi Presented on the Trunk / 대한피부과학회지

Reticulate acropigmentation of Dohi is a rare dyschromic disorder that has an autosomal dominant pattern of inheritance. It presents generally during infancy or early childhood as symmetrical pinpoint to pea-sized hyperpigmented and hypopigmented macules on the back of the hands and feet. The eruption slowly extends proximally and may rarely affect the sides of the neck and upper portion of the trunk. We report a case of reticulate acropigmentation of Dohi on the trunk of a patient with a family history of the disorder in four generations. To our knowledge, this is the first report in the Korean literature that describes skin lesions on the trunk in a patient with reticulate acropigmentation of Dohi.