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.

Topical photodynamic therapy for nevus sebaceous on the face.

Recently, topical photodynamic therapy (PDT) has been tried to treat sebaceous gland disorders. However, only one case of nevus sebaceous treated with PDT has been reported. Our aim was to investigate the outcomes of PDT on nevus sebaceus on the face. A total of 12 patients were treated with topical 20% ALA or methyl aminolevulinate (MAL) after CO(2) laser ablasion. The lesions were irradiated with light emitting diodes (LED) device. The regimen was delivered repeatedly at 1 to 4 week intervals to each patient. Clinical improvement was visually assessed at 1 month after treatment by the lesional responses; No response was defined as less than 25%, mild improvement as 25-50%, moderate improvement as 51-75% and marked improvement as more than 75% decrease of lesional volume. All 12 patients showed mild (3 patients, 25%), moderate (7 patients, 58%), and marked (2 patients, 17%) improvement of the lesions. However, 2 patients showed partial recurrences after completion of treatment. There was no significant side effect.These results suggest that topical PDT may be considered as an effective alternative treatment modality of nevus sebaceous on the face.

The cutaneous lesions of Kikuchi's disease: a comprehensive analysis of 16 cases based on the clinicopathologic, immunohistochemical, and immunofluorescence studies with an emphasis on the differential diagnosis.

Kikuchi's disease is a self-limited necrotizing lymphadenitis that is characterized by cervical lymphadenopathy and fever. Although it has been reported that some patients with Kikuchi's disease have cutaneous manifestations, the specific skin changes of patients with Kikuchi's disease have not been fully described. We report here on 16 patients of Kikuchi's disease with cutaneous manifestations. We reviewed the clinical histories of the patients who underwent lymph node and skin biopsies. Immunohistochemistry, immunofluorescence, and Epstein-Barr virus-encoded RNA (EBER) in situ hybridization were performed. The patients ranged in age from 7 to 39 years and included 4 males and 12 females. All the patients had histiocytic necrotizing lymphadenitis. The clinical impression was variable according to the various cutaneous manifestations. The skin biopsies showed vacuolar interface changes (12/16; 75.0%), necrotic keratinocytes (11/16; 68.8%), superficial (16/16; 100.0%) and deep (9/16; 56.3%) lymphohistiocytic infiltration, karyorrhexis (16/16; 100.0%), deposition of mucin (5/16; 31.3%), and panniculitis (9/15; 60.0%). Based on immunohistochemistry, the infiltrating cells were predominantly CD68 and CD163-positive histiocytes and CD3-positive T lymphocytes. Of the 16 patients, 13 (81.3%) had a slight predominance of CD8-positive lymphocytes. Direct immunofluorescence staining and EBER in situ hybridization were all negative. Although the clinical and histopathologic findings are very heterogenous, the presence of a lymphohistiocytic infiltration with nonneutrophilic karyorrhexis helps to make the diagnosis of Kikuchi's disease with skin involvement.

The histopathological characteristics of livedo reticularis.

BACKGROUND: Livedo reticularis (LR) is a skin disorder characterized by a reddish-blue mottling of the skin in a "fishnet" reticular pattern. The aim of this study was to investigate the major histopathological characteristics of LR and determine whether the histopathology of LR is more common in whitish areas or in the erythematous areas. METHODS: A clinical survey was carried out that included 16 patients with LR. The histopathological features were investigated with immunostains for factor VIII-related antigen, as well as routine hematoxylin-eosin. RESULTS: There were no significant differences in thrombi, arterial obliteration, or RBC aggregates between the central blanched area and the peripheral erythematous areas. The computer-assisted image analyses of factor VIII-related antigen-stained sections revealed no significant difference in the number of dermal blood vessels and telangiectasia between the areas studied. There were nine cases that showed one or more of the histopathological features of LR in either the central blanched areas or the peripheral erythematous areas. CONCLUSION: Our findings suggest that multiple punch biopsies should be performed in patients suspected of LR including both the peripheral erythematous and central whitish areas to increase the diagnostic yield.

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.