Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa.

BACKGROUND: Patients with recessive dystrophic epidermolysis bullosa (RDEB) exhibit blisters and erosions since birth, causing pain, pruritus and various complications. RDEB affects quality of life (QoL) in physical, emotional and social aspects. Furthermore, interminable dressing changes and supportive therapies impose a significant economic burden on the patient's family. OBJECTIVE: We assessed the QoL and economic burden in patients with RDEB. METHODS: Sixteen patients with RDEB were surveyed to assess the QoL and economic burden. Patients answered questionnaires consisting of a visual analogue scale (VAS) on pain and pruritus, Skindex-29, Quality of Life in EB questionnaire (QOLEB), and the economic burden due to EB. RESULTS: Thirteen patients with RDEB completed the questionnaire. Female patients presented higher VAS, QOLEB and total Skindex-29 scores than male patients. Patients with RDEB showed severe levels of pruritus, which was more intolerable than pain. Mean VAS score on pain in RDEB was higher than in oral lichen planus and post-herpetic neuralgia. VAS score on pruritus was similar to those in chronic urticaria, atopic dermatitis, and prurigo nodularis. Compared with other dermatologic conditions, patients with RDEB were profoundly affected in all three scales of skindex-29. Mean "medical cost" in a month was $257.54 (USD) (±169.39) and mean "dressing cost" was $358.41 (USD) (±312.55), which was negatively related to patient age. CONCLUSION: RDEB had a profound impact on QoL and economic burden. Compared with other dermatologic diseases, RDEB showed severe symptoms and QoL was seriously impaired. Most patients sustained economic burdens, especially on preparing dressing materials. Younger patients experienced more economic burdens.

A Multicenter Collaborative Study by the Korean Society of Vitiligo about Patients' Occupations and the Provoking Factors of Vitiligo.

BACKGROUND: It was previously thought that persons with genetic predispositions to vitiligo develop the condition after exposure to various precipitating environmental factors. However, in many cases, the aggravating factors of vitiligo have not been clearly identified. OBJECTIVE: To identify the aggravating factors of vitiligo in the working environment and daily life. METHODS: A total of 489 vitiligo patients were recruited from 10 institutions in South Korea; patients were provided with a questionnaire about environmental factors and behavior patterns in the workplace and in daily life, and their association with vitiligo. RESULTS: Ninety-five of the 470 enrolled patients (20.2%) answered that environmental risk factors in daily life and in the workplace affected the development of vitiligo. The most frequently attributed causes were trauma and burn (13.6%), followed by sunlight (12.8%), stress (12.8%), cleaning products/disinfectant/chemicals (4.9%), and hair dye (2.1%). CONCLUSION: Vitiligo of the hand and foot was associated with frequent exposure to aggravating materials and overexposure to sunlight, along with frequent trauma of these areas, all of which could be considered important risk factors of vitiligo. The development of vitiligo could potentially be controlled through the early detection of aggravating factors.

Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa.

Junctional epidermolysis bullosa (JEB) is a heritable blistering skin disease characterized by separation within the lamina lucida. It is caused by mutations in the LAMA3, LAMB3 and LAMC2 genes encoding the α3-, ß3- and γ2-chains, respectively, of laminin-332. JEB Herlitz type (JEB-H) is a lethal blistering disease with severe cutaneous and extracutaneous involvements caused by null mutations in the gene encoding laminin-332. Here, we report a proband with JEB-H who is a compound heterozygote for two novel mutations in LAMC2; a missense mutation (c.79G>A) and an insertion mutation (382insT) leading to a premature termination codon.

Comparison of microneedle fractional radiofrequency therapy with intradermal botulinum toxin a injection for periorbital rejuvenation.

BACKGROUND: For periorbital rejuvenation, injection of botulinum toxin A (BoNT/A) is known to improve both static as well as dynamic wrinkles. A microneedle fractional radiofrequency (MFR) device was recently developed and is a novel and promising tool. OBJECTIVE: This study compares the effects of these two treatment modalities on periorbital static wrinkles and lines. METHODS: Twelve healthy women aged 20-59 years with periorbital wrinkles participated in this study. Each patient received one session of intradermal injection of BoNT/A on the left periorbital area and three sessions of MFR on the right. Clinical improvement, skin elasticity and subjective satisfaction were evaluated at every visit (baseline, 3, 6 and 18 weeks). RESULTS: BoNT/A injection showed superior effects at 3 and 6 weeks. However, the MFR device showed better improvement at 18 weeks. In skin biopsies, the expression of procollagen 3 and elastin was increased on the MFR side compared to the untreated skin and the BoNT/A injection side. The patient satisfaction surveys at 3 weeks showed better satisfaction on the BoNT/A treatment side compared to the MFR treatment side. At 18 weeks, there were no significant differences in patient satisfaction between the two sides. CONCLUSION: BoNT/A injection rapidly improved periorbital wrinkles, but the effect decreased up to week 18. Compared to BoNT/A injection, MFR therapy showed gradual and long-term improvement in periorbital rejuvenation.

Two-point scoring method for the evaluation of pattern hair loss by phototrichogram using a headband and a tapeline.

BACKGROUND: A phototrichogram scalp measurement method using a headband and a tapeline was introduced as a non-invasive and economical measuring technique. OBJECTIVE: To evaluate the reliability and reproducibility of the two-point scoring method by phototrichogram using a headband and a tapeline. METHODS: The scalp hair of seven volunteers were measured in triplicate at the 'P' and 'V' points by three dermatologists. To calculate the degree of disease progression, we used a two-point ('P' point and 'V' point) scoring method. Statistical analyses for the evaluation of inter- and intra-investigator reliability and variability were performed. RESULTS: Overall intraclass correlation coefficients (ICCs) of intra-investigator reliability demonstrated ICCs with excellent agreement for all parameters, including the number and thickness of hair at the 'P' and 'V' points, as well as calculated degree of disease progression. ICCs of inter-investigator reliability demonstrated ICCs with excellent agreement in all parameters, except mean hair thickness at the 'P' point. Overall intra-investigator variability demonstrated coefficients of variation (CVs) ranging from 2.6% to 9.8%, whereas inter-investigator variability demonstrated CVs ranging from 2.9% to 6.3%. CONCLUSION: We suggest that a two-point scoring using our method is a non-invasive and economical measurement technique with high reliability and reproducibility.

Fractionated microneedle radiofrequency for the treatment of periorbital wrinkles.

Non-ablative bipolar and monopolar radiofrequency devices have been shown to be effective for the treatment of facial wrinkles. Recently, novel fractionated microneedle radiofrequency (FMRF) devices have been introduced. The aim of this study was to evaluate the clinical effectiveness and safety of FMRF for the treatment of periorbital wrinkles. Eleven women, aged 34-59 years, with periorbital wrinkles underwent three sessions of FMRF at 3-week intervals with a follow-up period of 3 months after treatment. Clinical improvement was evaluated using the Fitzpatrick Wrinkle Classification System (FWCS) and subjective satisfaction on a visual analog scale (VAS). The FWCS scores demonstrated significant improvement in periorbital wrinkles after treatment (P < 0.001). A satisfaction VAS score of more than 5, indicating high satisfaction, was obtained from 10 of 11 patients (91%) 3 months after treatment, and the mean satisfaction VAS score (n = 11) was 6.7. Patients undergoing treatment reported minimal pain, and neither long-lasting side-effects nor significant downtime was noted. This clinical study suggests that FMRF is a safe and tolerable method for successful treatment of periorbital wrinkles.