An Alanine to Proline Mutation in the 1A Rod Domain of the Keratin 10 Chain in Epidermolytic Hyperkeratosis

We report a mutation in a case of epidermolytic hyperkeratosis that results in a proline for alanine substitution in the residue position 12 of the 1A subdomain of the keratin 10 chain (codon 158). The disease phenotype is consistent with the inappropriate substitution of a proline near the beginning of the rod domain, because it is likely to seriously disrupt the structural organization of coiled-coil molecules within keratin intermediate filaments. Mutations/substitutions in this position have not been reported in any keratin disease. Position 12 is an alanine in all intermediate filament chains, and lies in the outer b heptad position of the coiled-coil. In vitro peptide interference assembly assays revealed that substitutions that alter residue size or charge at this position primarily interfere with keratin filament elongation

Treatment-Seeking Behaviors and Related Epidemiological Features in Korean Acne Patients

Little is known about the treatment-seeking behaviors of acne patients, especially Asian acne patients. This study was performed to obtain detailed information about the treatment-seeking behaviors in Korean acne patients. Patients who visited the dermatology departments at 17 university hospitals completed a self-administered questionnaire. Most patients obtained information about acne from doctors or the Internet. The most important criteria for selecting a treatment method or choosing a particular clinic were effectiveness and accessibility. Patients used traditional medicine, visited beauty clinics, drank more water, and used over-the-counter topical agents more frequently than they sought doctors during the worsening period. The degree of satisfaction in treatment was found to depend on the total cost of treatment, number of places visited, site affected by acne, and emotional stress. Those who had experienced a side effect tended to have been treated for longer, to have paid more for treatment, and to have an associated skin disease. Treatments prescribed by dermatology clinics had the lowest aggravating rate, although improvement rates for family medicine clinics were also fairly high. This is the first study to investigate in detail the demographic features and characteristics of the treatment-seeking behaviors of acne patients in Asia

A Case of Hydroa Vacciniforme

Hydroa vacciniforme (HV) is a rare and chronic pediatric disorder that is characterized by photosensitivity and recurrent vesicles that heal with vacciniforme scarring. The pathogenesis of HV is unknown; no chromosome abnormality has been identified. HV patients have no abnormal laboratory results, so the diagnosis of HV is based on identifying the associated histological findings in a biopsy specimen and using repetitive ultraviolet phototesting to reproduce the characteristic vesicles on a patient's skin. Herein, we present a case of HV in a 7-year-old female who was diagnosed with HV according to histopathology and ultraviolet phototesting