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ABSTRACT Background Aims Patients/Methods Results Conclusions Periorbital hyperpigmentation is a prevalent skin condition that represents a large quantity of cases seen in cosmetic dermatology. Patients tend to be left with pigmentation after Q‐switched ruby laser treatment, especially the perioribital area.The study is conducted to compare the effect of PRP injection combined with laser therapy versus laser alone for periorbital hyperpigmentation treatment.In this single‐center, case–control study, 30 patients with periorbital hyperpigmentation were allocated to receive PRP injection injection after Q‐switched ruby laser or Q‐switched ruby laser only, followed by a 12‐week and 24‐week follow‐up visit. Visual analogue scale, Sadick tear trough rating scale, and patients' self‐evaluation were used to evaluate the therapeutic effect.The combined group achieved a better improvement in long‐term effect and had effect on facial rejuvenation. Patient satisfaction was higher in the combined group. Erythema and mild pain were the most common adverse reactions of both groups.Combining with PRP injection can improve the therapeutic effect of Q‐switched ruby laser in treating periorbital hyperpigmentation and lessen the risk of post‐inflammatory hyperpigmentation, indicating a new option for POH treatment. [ABSTRACT FROM AUTHOR]

Focused ultrasound (FUS) is emerging as one of the most promising, non-invasive treatment techniques. The advancement of transducer technology has paved the way for dermatological applications. A comprehensive review is presented for healthcare practitioners and researchers, summarizing the effect of various operational parameters on the injury zone produced by ultrasound beams for various dermatological applications, which include skin tightening, fat reduction, hyperpigmentation and cancer treatment. In this article, we aim to highlight the efficient operational parameters of FUS to enhance pain relief during surgery and its affordability for skin treatment. Finally, a prospective future technique for efficient FUS is discussed. [ABSTRACT FROM AUTHOR]

Abstract Skin of color (SOC) is characterized by increased tendency for tanning and decreased likelihood of sunburns due to the attenuation of sunlight by epidermal melanin. Although this contributes to the decreased incidence of skin cancer among SOC populations, individuals with SOC remain susceptible to various health consequences associated with sun exposure, including non-melanoma skin cancer, photoaging, pigmentary disorders, and photodermatoses — many of which not only present differently, but also disproportionately affect SOC. Prior epidemiological studies have found lower prevalence of sun protection behaviors among individuals with SOC, particularly in sunscreen use, signifying an unmet area for improvement in the prevention of sun-induced dermatologic conditions in these populations. The objective of this narrative review was to summarize the biology and health consequences of sun exposure in SOC, as well as cognitive and behavioral factors that affect the practice of photoprotection behaviors in SOC populations. We also review prior interventions that have been used to enhance photoprotection knowledge and behaviors among individuals with SOC, either in racially and ethnically diverse communities or within specific SOC populations.

Skin of color (SOC) is characterized by increased tendency for tanning and decreased likelihood of sunburns due to the attenuation of sunlight by epidermal melanin. Although this contributes to the decreased incidence of skin cancer among SOC populations, individuals with SOC remain susceptible to various health consequences associated with sun exposure, including non-melanoma skin cancer, photoaging, pigmentary disorders, and photodermatoses — many of which not only present differently, but also disproportionately affect SOC. Prior epidemiological studies have found lower prevalence of sun protection behaviors among individuals with SOC, particularly in sunscreen use, signifying an unmet area for improvement in the prevention of sun-induced dermatologic conditions in these populations. The objective of this narrative review was to summarize the biology and health consequences of sun exposure in SOC, as well as cognitive and behavioral factors that affect the practice of photoprotection behaviors in SOC populations. We also review prior interventions that have been used to enhance photoprotection knowledge and behaviors among individuals with SOC, either in racially and ethnically diverse communities or within specific SOC populations. [ABSTRACT FROM AUTHOR]

Idiopathic eruptive macular pigmentation (IEMP) is a rare disorder of pigmentation presenting with asymptomatic hyperpigmentation mainly in children and adolescents over face, neck, trunk, and extremities. Epidermal basal-cell pigmentation is observed on histopathology. It usually resolves spontaneously over months to years. Lichen planus pigmentosus and erythema dyschromicum perstans should be differentiated from IEMP. We report four cases of IEMP fulfilling the criteria proposed by Sanz de Galdeano et al. in 1996. [ABSTRACT FROM AUTHOR]

Idiopathic eruptive macular pigmentation (IEMP) is a rare disorder of pigmentation presenting with asymptomatic hyperpigmentation mainly in children and adolescents over face, neck, trunk, and extremities. Epidermal basal-cell pigmentation is observed on histopathology. It usually resolves spontaneously over months to years. Lichen planus pigmentosus and erythema dyschromicum perstans should be differentiated from IEMP. We report four cases of IEMP fulfilling the criteria proposed by Sanz de Galdeano et al. in 1996.

Introduction: Melasma may occur in thyroid diseases, and its manifestations may be the first presenting sign or even precede the diagnosis by many years. Melasma is difficult to treat. An initial screening of thyroid dysfunction will help in better management of both thyroid disorders and melasma. Aim: To detect the proportion of thyroid dysfunction in patients with melasma and describe the clinical profile of such patients. Materials and Methods: This was a cross-sectional, observational study carried out in the Department of Dermatology, Venereology and Leprosy, of a tertiary care teaching hospital of Karnataka, India from September 2020 to February 2022. Patient above or equal to 18 years of age with newly diagnosed melasma alone and no history of thyroid dysfunction were included in the study. A detailed history, using a preformed questionnaire, was taken. Wood’s lamp examination, to know the depth of pigmentation, along with thyroid dysfunction test, and antiThyroid Peroxidase (TPO) antibody was evaluated. Descriptive statistics data were analysed using a Statistical Package for the Social Sciences (SPSS) software version 20.0. Results: There were 100 patients with a mean age of 35.9 years, with a predominance of female (86%) and the majority (48%) of population were housewives. The distribution of lesion was either dermal (55%) or epidermal (44%). There were 65 patients with positive antiTPO; with men (85.7%) being significantly more than women (61.6%). The distribution of pigmentations was higher for the dermal pattern (55%), among females (46) and males (9), while only one mixed pattern was seen in males. Conclusion: Male melasma patients had higher positivity of antiTPO positivity than females, with significant antiTPO positivity. These patients showed more dermal pigmentations on Wood’s lamp examination.

A 6‐year‐old female with a history of Aicardi–Goutières syndrome (AGS) presented to dermatology clinic with hypopigmented and hyperpigmented macules and patches consistent with dyschromatosis symmetrica hereditaria (DSH). Previous genetic workup demonstrated a de novo, heterozygous mutation in the adenosine deaminase acting on RNA 1 (ADAR) gene. While the co‐occurrence of AGS and DSH has previously been described in mutations of the ADAR gene, our case highlights the potential association between these disorders that may aid in earlier future diagnosis of AGS. [ABSTRACT FROM AUTHOR]

Dowling-Degos Disease is a rare, pigmentary disorder with variable presentations. The most common among them are hyperpigmented macules and reticulate pigmentary anomaly of flexures. Many other phenotypic variations of Dowling-Degos disease have been reported in literature. We present here a case of Dowling-Degos disease with comedo-like lesions and pits without typical flexural hyperpigmented macules.

Background: A recent report suggested potential of high‐intensity focused ultrasound in improving UVB‐induced hyperpigmentation in patients with Fitzpatrick skin type IV, but reports regarding its efficacy in other hyperpigmented conditions including melasma are lacking. Objectives: To investigate efficacy and safety of high‐intensity focused ultrasound for the treatment of melasma in Asians. Methods: Each side of the face of 25 melasma patients was randomized to receive 3‐monthly sessions of high‐intensity focused ultrasound treatment or serve as control. Lightness index, Melasma Area and Severity Index of malar area (MASIm) by blinded dermatologists, self‐evaluated improvement and satisfaction scales by patients, and side effects were assessed every 4 weeks for 20 weeks. Results: Twenty‐one patients with Fitzpatrick skin type III and IV completed the study. There was a greater reduction of relative lightness index and MASIm after treatment in high‐intensity focused ultrasound‐treated side. However, there were no statistically significant differences between both sides. More than 50% improvement on treatment side was rated in 11 patients (52.4%). Side effects were minimal. None had worsening of melasma. Conclusions: High‐intensity focused ultrasound may be an adjuvant for treatment of melasma. Further studies with larger sample size and proper parameter settings are recommended to determine its efficacy. [ABSTRACT FROM AUTHOR]

Recent progress in the field of laser and aesthetic medicine is discussed in this review to provide actual evidence for clinical practices. To date, several advances have been reported in this field. Among them, the most outstanding advancements include the application of short interval, multiple-session 1064-nm Q-switched laser for the treatment of caf佴-au-lait macules; treatment of facial hypopigmented scars by the laser hole technique; perioral microgroove correction with Erbium-YAG laser resurfacing; and so on. Laser treatment and other technologies are worth repeating and confirming by peers. [ABSTRACT FROM AUTHOR]

Dowling-Degos Disease is a rare, pigmentary disorder with variable presentations. The most common among them are hyperpigmented macules and reticulate pigmentary anomaly of flexures. Many other phenotypic variations of Dowling-Degos disease have been reported in literature. We present here a case of Dowling-Degos disease with comedo-like lesions and pits without typical flexural hyperpigmented macules. [ABSTRACT FROM AUTHOR]

Background and Objective: Little is known about the anti-pigmentation effects of whitening agents on solar lentigines. Epidermal growth factor (EGF) has been used as a booster for wound healing in the skin, and it has been suggested to have anti-pigmentation effects. This study aimed to evaluate the effect and safety of EGF-containing ointment for treating solar lentigines with a Q-switched (QS) 532 nm neodymium-doped yttrium aluminum garnet (Nd:YAG) laser (Bluecore company, Seoul, Republic of Korea). Materials and Methods: Subjects who underwent QS 532 nm Nd:YAG laser treatment of solar lentigines were randomly assigned to treatment with an EGF ointment or petrolatum. After the laser procedure, the subjects were administered the test ointment twice a day for 4 weeks. The physician’s assessment of the degree of pigment clearance and patient’s satisfaction were assessed after 4 and 8 weeks. Additionally, the melanin index (MI), erythema index (EI), transepidermal water loss (TEWL), and post-inflammatory hyperpigmentation (PIH) were evaluated. This trial was registered with ClinicalTrials.gov (NCT04704245). Results: The blinded physician’s assessment using 5-grade percentage improvement scale and patient’s satisfaction were significantly higher in the study group than in the control group at the 4th and 8th weeks. The MI was significantly higher in the control group than in the study group at the 4th and 8th weeks. The EI and TEWL did not differ significantly between the two groups at either time point. The incidence of PIH was higher in the control group (37.5%) than in the EGF group (7.14%) at the 8th week. Conclusions: The application of EGF-containing ointment on facial solar lentigines with a QS 532 nm Nd:YAG laser showed efficient and safe therapeutic effects, with less PIH. Thus, EGF-containing ointment could be suggested as the promising adjuvant treatment strategy with a QS laser for solar lentigines.

Purpose: To evaluate the association between age-related macular degeneration (ARMD) and sensory neural hearing impairment (SHI). Methods: In this case-control study, hearing status of 46 consecutive patients with ARMD were compared with 46 age-matched cases without clinical ARMD as a control group. In all patients, retinal involvements were confirmed by clinical examination, fluorescein angiography (FA) and optical coherence tomography (OCT). All participants were examined with an otoscope and underwent audiological tests including pure tone audiometry (PTA), speech reception threshold (SRT), speech discrimination score (SDS), tympanometry, reflex tests and auditory brainstem response (ABR). Results: A significant (P = 0.009) association was present between ARMD, especially with exudative and choroidal neovascularization (CNV) components, and age-related hearing impairment primarily involving high frequencies. Patients had higher SRT and lower SDS against anticipated presbycusis than control subjects. Similar results were detected in exudative, CNV and scar patterns supporting an association between late ARMD with SRT and SDS abnormalities. ABR showed significantly prolonged wave I and IV latency times in ARMD (P = 0.034 and 0.022, respectively). Average latency periods for wave I in geographic atrophy (GA) and CNV, and that for wave IV in drusen patterns of ARMD were significantly higher than controls (P = 0.030, 0.007 and 0.050, respectively). Conclusion: The association between ARMD and age-related SHI may be attributed to common anatomical components such as melanin in these two sensory organs.

Solar lentigines are common pigmentary lesions. Q-switched lasers are effective treatment options but postinflammatory hyperpigmentation (PIH) is common in darker skin. The objective of the study is to compare the efficacy and safety in solar lentigines of Asian skin treated by Q-switched potassium titanyl phosphate (KTP) 532-nm nanosecond laser vs. KTP 532-nm picosecond laser for the treatment of solar lentigines in Asians. Thirty patients with at least 2 solar lentigines on the upper extremities were enrolled. A total of 30 paired lentiginous lesions were randomly treated with a single treatment of either Q-switched KTP 532-nm nanosecond laser vs. KTP 532-nm picosecond laser. In terms of efficacy, mean luminance score was evaluated at baseline, at 6th, and 12th week. Degree of pigment clearance was assessed by a blinded physician and the patients. Satisfaction score was rated by patients using visual analogue scale. Adverse events were also recorded. Twenty-eight patients completed the study. Both lasers showed significant improvement in mean luminance score from baseline (p < 0.05). Likewise, there was no significant difference in pigment clearance between two lasers either assessed by physician or patients. However, patients' satisfaction score was significantly higher with the picosecond laser (p = 0.014). Adverse events and pain were not different between groups. Q-switched KTP 532-nm nanosecond laser and KTP 532-nm picosecond laser are safe and effective for treating solar lentigines in Asians. Based on cost-effectiveness, Q-switched KTP 532-nm nanosecond laser remains the main treatment while KTP 532-nm picosecond laser can be considered as a treatment option. [ABSTRACT FROM AUTHOR]

Introduction: Post-inflammatory hyperpigmentation (PIH) after solar lentigo removal using a Q-switched (QS) 532-nm Nd:YAG laser is a cause for concern. This study aimed to evaluate the efficacy and safety of intradermal injections of tranexamic acid (TA) at reducing the risk of PIH after QS 532-nm Nd:YAG laser treatment of solar lentigines. Methods: Twenty-five patients with 50 solar lentigines on forearms underwent QS 532-nm Nd:YAG laser treatment. Then, TA (50 mg/mL) was injected randomly into one lesion and 0.9% normal saline was injected intradermally into another lesion. Two blinded dermatologists and a Mexameter® evaluated photographs at baseline, and at weeks 2, 4, 8, and 12. Results: At the end of the study, the mean melanin index (MI) had decreased significantly in both groups. The TA group showed a significant reduction in the mean MI compared with that in the control group at week 4 (p = 0.025). The overall PIH rates were 16% and 28% in the TA and control groups, respectively. The side effects of TA were minimal and they were resolved within 1 h. Conclusion: Single dose of intradermal TA (50 mg/mL) injected can reduce the risk of developing PIH 4 weeks after 532-nm QS Nd:YAG laser treatment of solar lentigines. [ABSTRACT FROM AUTHOR]

Background/Objectives: Controversy persists as to whether lichen planus pigmentosus and ashy dermatosis are separate clinical entities. This study was conducted to examine the clinicopathological features and treatment outcome of the two conditions. Methods: A retrospective medical chart review of all patients who were diagnosed with lichen planus pigmentosus or ashy dermatosis was conducted. The information collected included the participants' age at onset, site of onset, duration of disease, presence of precipitating factors, distribution of disease, pigmentation and presence of symptoms. In patients from whom a biopsy was taken the histopathological reports were included. Results: Altogether 26 patients with ashy dermatosis and 29 with lichen planus pigmentosus were included in the study. Compared with ashy dermatosis, lichen planus pigmentosus had a more localised distribution with a preponderance for facial involvement, compared with the truncal preponderance in ashy dermatosis. Ashy dermatosis tended to have a more stable clinical course than lichen planus pigmentosus, which was more likely to wax and wane. The utility of histopathology in differentiating between the two conditions is low. Conclusion: Ashy dermatosis and lichen planus pigmentosus, as defined in this study, appear to be two separate clinical entities with distinguishable clinical features and natural histories. [ABSTRACT FROM AUTHOR]

Background: Vitiligo is one of the commonest pigmentary disorders characterized by destruction of melanocytes. Aim: To evaluate the efficacy of topical bimatoprost ophthalmic solution in stable facial vitiligo. Material and methods: Eight cases of stable facial vitiligo were treated with bimatoprost 0.03% ophthalmic solution once daily for 12 weeks. Photographic records were taken at 2 weeks follow-up along with dermoscopic (Polarized, 109) evaluation. Results: Four cases had excellent repigmentation, two cases had partial repigmentation and two cases had poor response. Conclusion: Bimatoprost seems to be promising in treating stable vitiligo but largescale studies are required. [ABSTRACT FROM AUTHOR]

A variety of topical depigmenting agents have been used clinically, with varying degrees of success. To date, the most effective topical treatment is a triple-combination agent containing hydroquinone (HQ), tretinoin, and fluocinolone acetonide. However, its use is associated with relatively high frequencies of adverse reactions, and therefore there is a necessity to produce effective topical depigmenting agents with fewer adverse effects. Several processes can be targeted for the treatment of hyperpigmentation; specifically, regulation of melanogenesis by inhibiting tyrosinase activity, a key enzyme in melanin synthesis, represents a major therapeutic target. Another option is regulation of melanosomes by manipulation of their formation or transfer. In addition, depigmenting agents can act through antioxidant or anti-inflammatory activities. We compared the tyrosinase inhibitory activity and cytotoxicity of HQ with those of other cosmetic ingredients. The results showed that although HQ was a strong tyrosinase inhibitor, it was cytotoxic at high concentrations. By contrast, 4-n-butylresorcinol effectively controlled tyrosinase activity without showing toxicity at high concentrations. These findings indicated that 4-n-butylresorcinol had the potential to act as an effective depigmenting agent, while producing less irritation than the currently available agents.

Skin hyperpigmentation is a frequently encountered problem, particularly in darker skin types. Unfortunately, standard treatments for this condition have shown disappointing results. High-intensity focused ultrasound (HIFU) is commonly indicated for skin laxity, but recently was used to treat UV-induced hyperpigmentation in animal models. This study is aimed to evaluate the efficacy and safety of high-intensity focused ultrasound for UVB-induced hyperpigmentation in human subjects. A randomized, evaluator-blinded pilot study was conducted on 20 subjects. Each subject was induced three hyperpigmentary spots by local broadband UVB. After 2 weeks, each spot was randomly allocated to control, low-energy, and high-energy HIFU. Subjects were instructed to follow up weekly for a duration of 1 month. Lightness index measurements, mean improvement scores, subjects' satisfaction, pain scores, and side effects were evaluated. All 20 subjects completed the study. Fourteen subjects had Fitzpatrick (FPT) skin type III and six subjects had FPT skin type IV. Twelve subjects showed greater improvement at control sites while eight subjects showed greater improvement at HIFU-treated sites. In FPT skin type III, HIFU appeared to be inferior to control in both lightness index and mean improvement scores, but in FPT skin type IV, HIFU had greater lightness index improvement and higher improvement scores than control. Side effects were more frequent in high-energy-treated areas. Focused ultrasound may be offered in some patients with hyperpigmentary conditions. More research is needed to determine proper energy settings for optimal outcome. [ABSTRACT FROM AUTHOR]

Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical stable hypopigmented or depigmented macules. We report a family with piebaldism affecting three successive generations and also review the literature.

Facial vitiligo is associated with considerable psychological impact. The management is challenging and requires multidisciplinary treatment. Adding fractional carbon dioxide (CO2) to the conventional treatment has been reported as an effective modality. This study aimed to evaluate the efficacy of combined fractional CO2 laser, targeted ultraviolet B (UVB) phototherapy, and topical steroid on facial vitiligo. A prospective, randomized, split face study was conducted on 14 patients with symmetrical non-segmental facial vitiligo. Ten sessions of fractional CO2 laser was performed on the lesions on one side of face with 2-week interval. Immediately after laser, the lesions on both side of face were treated with 10 sessions of 2-week interval targeted UVB phototherapy and twice daily application of topical 0.05 % clobetasol propionate cream. The patients were followed up for 12 weeks after the last treatment. Clinical improvement was graded by blinded dermatologists and patients using a quartile grading scale. Twelve out of 14 patients completed the study. The degree of improvement was not different between both sides in nine patients. One patient showed more improvement on the combined laser side, and two patients showed inferior results on the combined laser side. Two patients with lesser improvement on the laser-treated side had positive Koebner phenomenon on the non-facial area. The combined treatment with laser, targeted UVB, and topical steroids are not superior to targeted UVB and topical steroids in facial vitiligo. Furthermore, laser may retard the response to the standard treatment in patients with Koebner phenomenon on non-treated areas. [ABSTRACT FROM AUTHOR]

Background/Objectives: Cosmetic camouflage is known to improve quality of life in adults. Few data are available regarding cosmetic camouflage in children, and thus it is not often selected as a mode of treatment. We sought to determine whether cosmetic camouflage leads to improved quality of life of pediatric patients with visible dermatoses and their parent or primary caregiver. Methods: Patients aged 5 to 17 years with visible skin disease and their parent were assessed with the Children's Dermatology Life Quality Index (CDLQI) and the Family Dermatology Life Quality Index (FDLQI) before and after consultation regarding cosmetic camouflage. Results: Twenty-two children with skin conditions were included in the study. The mean CDLQI decreased from 6.82 (SD = 1.28) to 3.05 (SD = 0.65; P = .0014), while the mean FDLQI decreased from 7.68 (SD = 1. 15) to 4.68 (SD = 0.92; P = .0012). Conclusions: Our study highlighted improvement in quality of life in patients with skin disorders who were managed with cosmetic camouflage. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 14-year-old boy presented with multiple asymptomatic hypopigmentation on the trunk, neck, and upper limbs. His medical history indicated he did not have atopic dermatitis or any immunodeficiency. General physician mistakenly diagnosed him psoriasis. The histopathologic examination revealed hyperkeratosis, diagnosis of pityriasis versicolor was established, and the patient was given two doses of fluconazole and ketoconazole cream for treatment.

Background: The vitiligo of the penis and vulva is a difficult to treat region of the body where the existing surgical repigmentation methods usually do not give satisfactory results. Objective: This study was conducted to evaluate the efficacy of microskin grafting in stable genital vitiligo. Methods: Four male patients and 1 female patient were included in this study, and microskin grafting was performed in the stable vitiliginous areas of genitals under regional anaesthesia. Results: The microskin grafting technique has shown desired results at these sites with near total pigmentation and negligible donor area deformity. Conclusion: The microskin grafting for vitiligo is simple, reliable, and the most cost-effective technique of tissue grafting that has all the benefits of the latest cellular grafting techniques without its high cost and infrastructure. [ABSTRACT FROM AUTHOR]

Background: The management of dysplastic nevi is controversial. No studies have collected data regarding management of the lesion amongst Canadian dermatologists. Objective: To provide a comprehensive review of what the prevailing opinions are, regarding treatment and terminology of dysplastic nevi, amongst Canadian dermatologists. Methods: An online survey of 25 questions was e-mailed to 613 members of the Canadian Dermatology Association, in French and English. Results: A total of 179 responses were received. Varying numbers of participants completed each question. The majority of participants think that the term dysplastic nevus should not be abandoned, and they indicated that they never reexcise lesions with mild to moderate atypia even when the margins are positive. Conclusions: The majority of Canadian dermatologists retain the use of the term dysplastic nevus and do not reexcise lesions with mild to moderate atypia even when the margins are positive. [ABSTRACT FROM AUTHOR]

Background: Melanocyte-keratinocyte transplant procedure (MKTP) successfully repigments postburn leukodermic scars. Objective: To further investigate the efficacy and limitations of MKTP for treatment of mechanically and chemically induced leukodermic scars. Methods: Ten patients with mechanically or chemically induced, depigmented or hypopigmented scars were preoperatively evaluated with Wood's light examination, treated with MKTP, and followed for at least 6 months, with monitoring of repigmentation and colour matching. Results: Nine patients attended at least 6 months of follow-up. Six patients showed no fluorescence of scars under Wood's lamp. All patients whose lesions didn't fluoresce displayed less than 50% repigmentation, with 5 of 6 attaining 0% to 24%. Of the 3 patients displaying bright or some fluorescence, more than 95% repigmentation was achieved in 2 patients (skin phototypes V and VI), while less than 24% was attained for the third (skin phototype II). Conclusions: In this small case series, lack of fluorescence in leukodermic scars may be a useful negative prognostic indicator for MKTP, but additional trials are needed to verify that this is not due to melanocompetency. [ABSTRACT FROM AUTHOR]

Context: Onset of vitiligo during childhood is not uncommon but the data is limited on this subject. Aims: This study was planned to assess the magnitude of childhood onset vitiligo (COV) and adulthood onset vitiligo (AOV), and compare their clinical pattern. Settings and Design: A cross sectional hospital based clinical study. Materials and Methods: Consecutive patients with vitiligo attending the Dermatology OPD of RNT Medical College and MB Government Hospital, Udaipur, from April 2012 to September 2012 were the subjects of this study. A detailed history taking followed by general, systemic and cutaneous examination, and relevant investigations were carried out. The findings were recorded in a proforma for analysis and interpretation of data. Statistical analysis used: Statistical analysis of data was done using chi- square and Z test. Results: Of the 295 patients seen during the study period, 109 (36.95%) were patients with COV while 186 (63.05%) had AOV; the COV: AOV ratio being 1: 1.71. Amongst COV patients, females (65/109; 59.63%) outnumbered males (44/109; 40.37%). Maximum (51; 46.79%) patients of COV had onset of their disease on head and neck, out of which eyelid was the initial site of lesion in 29 (26.61%) patients. None of COV patients had universal and isolated mucosal vitiligo. Conclusions: Female predominance, affection of eyelids as initial site, and less frequent mucosal involvement in COV were the clinical features different from AOV. [ABSTRACT FROM AUTHOR]

A variety of topical depigmenting agents have been used clinically, with varying degrees of success. To date, the most effective topical treatment is a triple-combination agent containing hydroquinone (HQ), tretinoin, and fluocinolone acetonide. However, its use is associated with relatively high frequencies of adverse reactions, and therefore there is a necessity to produce effective topical depigmenting agents with fewer adverse effects. Several processes can be targeted for the treatment of hyperpigmentation; specifically, regulation of melanogenesis by inhibiting tyrosinase activity, a key enzyme in melanin synthesis, represents a major therapeutic target. Another option is regulation of melanosomes by manipulation of their formation or transfer. In addition, depigmenting agents can act through antioxidant or anti-inflammatory activities. We compared the tyrosinase inhibitory activity and cytotoxicity of HQ with those of other cosmetic ingredients. The results showed that although HQ was a strong tyrosinase inhibitor, it was cytotoxic at high concentrations. By contrast, 4- n -butylresorcinol effectively controlled tyrosinase activity without showing toxicity at high concentrations. These findings indicated that 4- n -butylresorcinol had the potential to act as an effective depigmenting agent, while producing less irritation than the currently available agents. [ABSTRACT FROM AUTHOR]

We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The patients showed the classical phenotype and demonstrated in addition variable degrees of gyration abnormalities and malformations of the callosal body with an interhemispheric cyst. One patient also showed underdevelopment of the cerebellar vermis. This confirms that cortical malformations should be considered cardinal manifestations of MOPD I. Oculocutaneous albinism, brain hemorrhage and chilblains have been found to be associated with MOPD I. The present study showed lack of retinal pigmentation in three patients of whom two had an unusually fair complexion of hair and skin. One patient was found to have a hematoma in the left thalamus. This may indicate that both pigmentary abnormalities and vascular anomalies may be part of the phenotype of MOPD I as well. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Conclusion: PAX3 genetic analysis increased the diagnostic accuracy for Waardenburg syndrome type I (WS 1). Analysis of the three-dimensional (3D) structure of PAX3 helped verify the pathogenicity of a missense mutation, and multiple ligation-dependent probe amplification (MLPA) analysis of PAX3 increased the sensitivity of genetic diagnosis in patients with WS 1. Objectives: Clinical diagnosis of WS 1 is often difficult in individual patients with isolated, mild, or non-specific symptoms. The objective of the present study was to facilitate the accurate diagnosis of WS 1 through genetic analysis of PAX3 and to expand the spectrum of known PAX3 mutations. Methods: In two Japanese families with WS 1, we conducted a clinical evaluation of symptoms and genetic analysis, which involved direct sequencing, MLPA analysis, quantitative PCR of PAX3, and analysis of the predicted 3D structure of PAX3. The normal-hearing control group comprised 92 subjects who had normal hearing according to pure tone audiometry. Results: In one family, direct sequencing of PAX3 identified a heterozygous mutation, p. I59F. Analysis of PAX3 3D structures indicated that this mutation distorted the DNA-binding site of PAX3. In the other family, MLPA analysis and subsequent quantitative PCR detected a large, heterozygous deletion spanning 1759-2554 kb that eliminated 12-18 genes including a whole PAX3 gene. [ABSTRACT FROM AUTHOR]

Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical stable hypopigmented or depigmented macules. We report a family with piebaldism affecting three successive generations and also review the literature. [ABSTRACT FROM AUTHOR]

The skin and the central nervous system are tissues of common ectodermal origin and share a close ontogenetic relationship. Genetic diseases primarily affecting both organ systems are regularly encountered in both dermatological and neurological settings. Here, we report on a boy with epileptic encephalopathy, severe intellectual disability, optic atrophy, and progressive cerebellar and supratentorial atrophy, reminiscent of progressive encephalopathy with edema and hypsarrythmia (PEHO) syndrome displaying a previously undescribed dyschromatosis in the form of progressive reticulate and mottled hyper- and hypopigmentation of the neck and the inguinal and axillary regions. We hypothesised that this combination of neurological and cutaneous findings has a common aetiology and represents a novel recognisable entity. Because of the unusual dermatological findings, we suggest the term dyschromatosis ptychotropica. Recognition of further cases may help elucidate the aetiology of this condition and give insight into the pathophysiology of both pigmentation disorders and epileptic encephalopathies. [ABSTRACT FROM AUTHOR]

Melanin pigment is a major factor in determining the color of the skin, and its abnormal increase or decrease can cause serious pigmentation disorders. The melanin pigment of the skin is divided into light pheomelanin and dark eumelanin, and a big difference between them is whether they contain sulfur. Melanin synthesis starts from a common reaction in which tyrosine or dihydroxyphenylalanine (DOPA) is oxidized by tyrosinase (TYR) to produce dopaquinone (DQ). DQ is spontaneously converted to leukodopachrome and then oxidized to dopachrome, which enters the eumelanin synthesis pathway. When DQ reacts with cysteine, cysteinyl dopa is generated, which is oxidized to cysteinyl DQ and enters the pheomelanin synthesis pathway. Therefore, thiol compounds can influence the relative synthesis of eumelanin and pheomelanin. In addition, thiol compounds can inhibit enzymatic activity by binding to copper ions at the active site of TYR, and act as an antioxidant scavenging reactive oxygen species and free radicals or as a modulator of redox balance, thereby inhibiting overall melanin synthesis. This review will cover the metabolic aspects of thiol compounds, the role of thiol compounds in melanin synthesis, comparison of the antimelanogenic effects of various thiol compounds, and clinical trials on the skin lightening efficacy of thiol compounds. We hope that this review will help identify the advantages and disadvantages of various thiol compounds as modulators of skin pigmentation and contribute to the development of safer and more effective strategies for the treatment of pigmentation disorders. [ABSTRACT FROM AUTHOR]

Color loci in mammals are those genetic loci in which mutations can affect pigmentation of the hair, skin, and/or eyes. In the mouse, over 800 phenotypic alleles are now known, at 127 identified color loci. As the number of color loci passed 100 only recently, we celebrate this ‘century’ with an overview of these loci, especially the 59 that have been cloned and sequenced. These fall into a number of functional groups representing melanocyte development and differentiation, melanosomal components, organelle biogenesis, organelle transport, control of pigment-type switching, and some systemic effects. A human ortholog has been identified in all cases, and the majority of these human genes are found to be loci for human disorders, often affecting other body systems as well as pigmentation. We expect that a significant number of color loci remain to be identified. Nonetheless, the large number known already provide a treasury of resources for reconstruction of the mechanisms, at the subcellular, cellular and tissue levels, that produce a functional pigmentary system and contribute to the normal development and functioning of many other organ systems. The mutant mice also provide valuable models for the study of human disease. [ABSTRACT FROM AUTHOR]

Amyloidosis cutis dyschromica (ACD) is a rare form of cutaneous amyloidosis, characterized by generalized, asymptomatic hyperpigmentation intermingled with several hypopigmented spots without papulation, atrophy and telangiectasia. Its onset usually begins before puberty. We hereby describe two female siblings of ACD belonging to tribal groups with no systemic involvement. This condition should be considered as a separate entity and need to be differentiated from other variants of primary cutaneous amyloidosis. [ABSTRACT FROM AUTHOR]

Dyschromatosis Universalis Hereditaria is a rare genodermatoses characterised by hyperpigmented and hypopigmented macules which are variable in size and shape. We report a case of Dyschromatosis Universalis Hereditaria from North east India who presented with multiple asymptomatic hyperpigmented and hypopigmented lesions over trunk and extremities since birth with positive family history which was later confirmed by histopathology. [ABSTRACT FROM AUTHOR]

Segmental vitiligo ( SV) is usually characterized by a unilateral-dermatomal distribution, earlier onset and rapid progression followed by stabilization. The response to phototherapy in patients with SV is limited. We evaluated the treatment response in 39 cases of SV according to disease duration. Ten cases (50.0%) of Group 1 (duration ≤ 5 months) and five cases (26.3%) of Group 2 (duration > 5 months) showed more than 50% repigmentation. Contrary to previous reports, patients in our study responded well to medical treatments like oral steroids, topical calcineurin inhibitors and phototherapy when treated early after onset. The results suggest that early treatment is important. [ABSTRACT FROM AUTHOR]

Summary Myosin Va is an actin-associated motor protein involved in organelle transport such as melanosomes and neuron synaptic vesicles and has always been proposed as the candidate gene for the autosomal recessive Griscelli–Pruniéras syndrome, one of the silvery hair syndromes, which is a lethal disease combining immunodeficiency and neurologic and pigmentary abnormalities. Thus far, two mutations in the myosin Va gene have been described to be associated with this syndrome. One of these mutations was a homozygous mis-sense mutation causing an arginine to cysteine alteration at codon 1246. Because we also found this particular substitution after mutation analysis of a Griscelli patient, we checked its relevance in a control group of 124 unrelated healthy individuals and found it to be present, even in homozygous state, in normal unaffected individuals. It is clear that this arg1246cys substitution is a polymorphism occurring in the human population and not occurring in association with Griscelli syndrome. Distinguishing a polymorphism from a bona fide mutation is of uttermost importance and has major ethical implications with regard to prenatal genetic counseling in affected families. [ABSTRACT FROM AUTHOR]

Abstract: A 13‐year‐old Korean girl presented with a 7‐year history of a pruritic, light‐brown patch containing multiple 0.2‐ to 0.5‐cm brownish‐to‐reddish maculopapules on the left anterior chest. When her skin was rubbed, the lesion became itchy and red. Histopathologic evaluation demonstrated marked dense dermal infiltration of mast cells. We report a rare case of atypical maculopapular cutaneous mastocytosis with clinical features similar to those of nevus spilus. [ABSTRACT FROM AUTHOR]