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Facial pigmented spots are one of the phenotypes of skin aging, but no quantitative analysis of spot features such as color intensity, size, anatomical position, and number on the cheek has yet been performed. In the current study, we conducted an epidemiological survey of 454 Japanese women in their 20s to 70s and analyzed age-related changes and site differences of facial pigmented spots. Using image analysis of high-resolution digital facial photographs, 4912 individual pigmented spots were quantified according to color, size, anatomical position, and total number on the cheek. As a result of color analysis, the color intensity of individual pigmented spots increased with aging, significantly so between ages 30s and 50s. The age-related increase in melanin index of facial spots was confirmed in all sites but did not significantly differ between facial subregions. Regarding the size of pigmented spots, the frequency of large spots increased with age, and large spots were detected in all facial sites. The total number of pigmented spots on the entire cheek increased with aging, significantly so between the 20s and 40s. The number of pigmented spots tended to increase from the region near the canthi to the lower cheeks. The number of spots was markedly increased in the buccal regions compared with the infraorbital and zygomatic regions. The data and methodology presented in the current study can link the state of facial pigmentation with the various factors involved in the histological development of pigmented spots, opening new possibilities in the fields of skin pharmacology and dermatology.

Pigmented lesions from chronic UV photoaging are extremely common on the face and hands.To evaluate the safety and efficacy of a 532-nm picosecond laser for these types of pigmented lesions.This was a single-center, prospective, open-label clinical trial. Eligible subjects with pigmentation on the face and hands received 3 monthly treatments, with 1 month (1M) and 3 months (3M) follow-up. Change in investigator-graded overall facial and per lesion pigmentation and subject-graded satisfaction and pigmentation improvement was evaluated by a 5-point scale. Immediate skin response and adverse events (AEs) were evaluated post-treatment. The melanin index was measured using a mexameter. Randomized before and after photographs were graded by 3 blinded physicians for degree of pigmentation improvement.Twenty-five subjects (22F/3M) with Fitzpatrick skin types I-III were enrolled, with 23 subjects completing. Treatments used a 532 nm wavelength, 800 ps pulse duration, 4-6mm spot size, and 0.1 to 0.6J/cm2 fluence. Good-to-excellent clearance at 1M/3M was demonstrated in ≥95% of lesions (n = 116). Only mild treatment-related pain was reported, with transient post-treatment AEs (mean downtime of 2.1 ± 2.0 days) and no serious treatment-related AEs. Subject satisfaction (satisfied or very satisfied) was 95% at 1M and 91% at 3M.Treatment with a 532-nm picosecond laser is safe and highly effective for the treatment of the pigmented lesions of the face and dorsal hands.

The risk factors affecting acral melanoma metastasis and prognosis remain unclear. The study included 168 patients with invasive acral melanoma who were followed for ≥3 years. We evaluated patient demographics, stages, clinicopathological features, anatomic site of melanoma including nail versus volar surface, and degree of melanoma pigmentations, sentinel lymph node biopsy results, and the first metastasis sites. Of the 168 patients (mean age 64.5 years; 52.4% male), 43 (25.6%) had invasive melanoma without metastasis, 113 (67.3%) had invasive melanoma with a first lymph node metastasis, and 12 (7.1%) had invasive melanoma with invasive melanoma with a first distant metastasis. Advanced T stage, high mitotic rate, ulceration, and the degree of pigmentation were significant risk factors for metastasis. Amelanotic and mild pigmentation of acral melanoma was associated with first distant metastasis, whereas heavy pigmentation was associated with first lymph node metastasis. Advanced TNM stages, high mitotic rate, volar location (hazard ratio = 2.24, 95% confidence interval 1.18-4.26), and low-pigmentation (hazard ratio = 2.02, 95% confidence interval 1.17-3.49) were associated with melanoma-specific mortality.

Background Vitiligo is characterized by the destruction of functional melanocytes in the skin. This destruction can target melanocytes anywhere in the body, in turn affecting the function of the organs in which the affected melanocytes reside. Melanocytes in the skin, uveal tract and ear are similar in their physiology and morphology, and share a common embryological origin. Aim To study the association of vitiligo with ocular and auditory abnormalities. Methods This case-control study was carried out on 40 patients with vitiligo and 20 healthy controls (HCs). All patients and HCs underwent auditory examination (otoscopic examination and immittance audiometry to assess middle ear pressure and exclude tympanic membrane perforation; pure tone audiometry to assess peripheral hearing sensitivity; and transient evoked otoacoustic emissions to assess central hearing ability) and standard ocular examination including visual acuity test, slit lamp biomicroscopy and optical coherence tomography. Results Compared with controls, there was a significantly higher prevalence of hearing loss and ocular abnormalities in patients with vitiligo but no significant difference in visual acuity. Conclusion Vitiligo is a systemic disease that can be associated with impairment of melanocyte function organs other than the skin, including the eyes and ears. The function of auditory melanocytes is related to the hearing process and thus their destruction could lead to hearing impairment. By contrast, ocular melanocytes do not play a direct role in detection or transfer of visual information, and thus should not affect vision. Vitiligo may be associated with ocular abnormalities and hearing loss.

Chromhidrosis is a rare disorder, which can have significant psychosocial consequences for patients, particularly when it affects the face, as it can be mistaken for scarring, dirt or erroneous make-up application. Chromhidrosis can be divided into apocrine, eccrine and pseudo subtypes. We present a case of apocrine chromhidrosis localized to the bilateral cheek area. Click https://www.wileyhealthlearning.com/#/online-courses/9c761d0a-20de-4709-a57d-36be93cf64e1 for the corresponding questions to this CME article.

We present a 5-year-old girl who accidentally crushed an insect of the coleoptera family walking barefoot and secondarily developed an exogenous acral pigmentation. The lesions resolved spontaneously within a few weeks. Proper identification of the insect and a detailed physical examination were key to avoiding unnecessary invasive diagnostic tests.

Background Vitiligo is an acquired pigmentation disorder due to loss of melanocytes. Topical tacrolimus is effective in vitiligo treatment with minimal effect on extra-facial lesions. Objective To assess different methods of enhancing the absorption of topical tacrolimus in extra-facial vitiligo sites using microneedling and occlusion. Methods This study included 20 adult patients of both sexes with non-segmental vitiligo. Four extra-facial vitiligo lesions in each patient were randomly labeled A, B, C, and D and treated as follows: area A: tacrolimus ointment (0.03%) application twice/day, area B: microneedling once/week and tacrolimus ointment application directly after microneedling and twice/day the rest of the week, area C: microneedling once/week alone, and area D: tacrolimus ointment application twice/day under occlusion by polyethylene foil. The evaluation was done clinically by calculating the re-pigmentation percent after 6 months of treatment. Results Responders in area B were 45%, and 35% in area C, and 25% in both areas A and D. No statistically significant difference was detected regarding the re-pigmentation percent between the four areas (p > 0.05). No correlations were detected between re-pigmentation percent and patients' data. Conclusion Combination of microneedling and topical tacrolimus has an edge over monotherapy in vitiligo, and further studies are needed to verify such results.

Summary Background Most patients with facial pigmentary disorders have multiple disorders. However, there is no definitive treatment algorithm improving various pigmentary disorders simultaneously. Objectives To investigate the clinical efficacy and safety of the combination of the Q-switched alexandrite and the carbon dioxide lasers with ZO SKIN HEALTHⓇ for facial pigmentary disorders. Patients/methods This prospective observational study enrolled 251 patients with at least one facial pigmentary disorder. We assessed treatment efficacy and investigated which disorders were most responsive to combination treatment and the relationship between doctors' skills, outcomes, and dropout rates. Results There were 246 patients with lentigo senilis, 186 with moles, 79 with melasma, 53 with seborrheic keratosis, 17 with acquired dermal melanocytosis (ADM), and 16 with freckles. Overall, 227 patients completed treatment. Post-treatment outcomes were excellent in 97, good in 113, fair in 17, and poor in 0 patients. Freckles were the most responsive, and ADM was the least responsive. Patient withdrawal and treatment outcomes did not differ significantly based on the doctors' skills. Overall, 3.2% of patients had adverse events. Conclusions: Our combination algorithm improved several pigmentary disorders of the face simultaneously, regardless of the doctors' proficiency level.

Background Melanonychia refers to brown-black color pigmentation due to melanin or not-melanin deposition in the nail plate. Onychoscopy allows to distinguish if the pigmentation is due by melanin or not. The main causes of non-melanic pigmentation are subungual hematoma and pigmented onychomycosis. Fungal melanonychia (FM), is rare and may present as diffuse or longitudinal pigmentation. Differential diagnosis includes melanic activation, such as ethnic-type nail pigmentation or frictional melanonychia, but also versus melanic proliferation, such as nevus or nail melanoma. Fungal melanonychia can be due a colonization by fungi with black variant or by melanin activation due to inflammation of fungal invasion. Objectives The aim of paper is to increase clinical and dermoscopic knowledge of this increasingly frequent disease. Methods In this retrospective observational study, twenty patients with dermatophytic melanonychia were collected, with available clinical and dermoscopic pictures. The diagnosis of dermatophytic melanonychia was made based on clinical manifestation and mycological examination. KOH smear was performed in all cases. For each patient, clinical data included: age, gender, type of melanonychia and involved fingers. Results This study aimed to show increased incidence of dermatophytic melanonychia and its correct management. In addition, we reviewed our collected cases and described the clinical and dermoscopic features of dermatophytic melanonychia. Conclusions The results of this study showed that physicians should keep in mind the diagnosis of this increasing disease, and that it cannot be performed relying only on clinical grounds. We would like to highlight the importance of tools as KOH examination, culture, and dermoscopy.

The imaging characteristics of congenital grouped pigmentation of the retinal pigment epithelium (CGP-RPE) and its non-pigmented variant - grouped congenital albinotic retinal pigment epithelial spots (GCARPES) are poorly defined in the literature. Our case series reports their multimodal imaging characteristics across a spectrum of presentations.A retrospective review of patient records was conducted on patients seen at the Centre for Eye Health between January and December 2016. The multimodal imaging findings across four cases is described using optical coherence tomography (OCT), infrared imaging, ultra-widefield imaging, fundus photography and fundus autofluorescence (FAF).Case 1 is a 55-year-old female with a bilateral presentation of CGP-RPE showing typical features. Case 2 is a 28-year-old male with a classical presentation of GCARPES in the left eye. Case 3 is a 33-year-old female with unilateral CGP-RPE and an atypical solitary congenital hypertrophy of the retinal pigment epithelium (CHRPE) in the same eye. Case 4 is a unilateral presentation in an 11-year-old female with unusual characteristics. Ocular imaging characteristics of CGP-RPE lesions varied between patients: OCT showed visible RPE changes in cases 3 and 4 but not case 1. The pattern of FAF and infrared imaging also varied with most lesions displaying a pattern of hypo-autofluorescence, but some central lesions in case 3 exhibited hyper-autofluorescence. All lesions were visible with fundus photography.FAF can be helpful in alerting clinicians to the presence of lesions that may be difficult to visualise funduscopically and OCT can be helpful in differentiating between CGP-RPE and its variants from more sinister ocular conditions. All in all, these findings highlight the variable manifestation of CGP-RPE and its variants on multimodal imaging; the diagnosis of CGP-RPE and its variants should remain based on its characteristic funduscopic appearance.

The SAM and SH3 domain-containing 1 (SASH1) genes have been identified as the causal genes of dyschromatosis universalis hereditaria (DUH); these genes cause the pathological phenotypes of DUH, and SASH1 variants have been shown to regulate the abnormal pigmentation phenotype in human skin in various genodermatoses. However, investigations into the mutated SASH1 gene have been limited to in vitro studies. In the present study, to recapitulate the molecular pathological phenotypes of individuals with DUH induced by SASH1 mutations, a heterozygous BALB/c mouse model, in which the human SASH1 c.1654 T>G (p. Tyr 551Asp, Y551D) mutation was knocked in was first generated. The in vivo functional experiments on Y551D SASH1 indicated that the increased expression of microphthalmia-associated transcription factor (Mitf) was uniformly induced in the tails of heterozygous BALB/c mice, and an increased quantity of Mitf-positive epithelial cells was also detected. An increased expression of Mitf- and Mitf-positive cells was also demonstrated in the epithelial tissues of Y551D-SASH1 affected individuals. In the present study, Mitf expression was also found to be increased by Y551D SASH1 in vitro. Taken together, these findings indicate that the upregulation of Mitf is the bona fide effector of the Y551D SASH1-mediated melanogenesis signaling pathway in vivo. SASH1 may function as a scaffold molecule for the assembly of a SASH1-Mitf molecular complex to regulate Mitf expression in the cell nucleus and thus to promote the hyperpigmented phenotype in the pathogenesis of DUH and other genodermatoses related to pigment abnormalities.

Previous rat toxicity studies of alpha-glycosyl isoquercitrin (AGIQ), a water-soluble flavonol glycoside derived from rutin, revealed systemic yellow bone discoloration. This investigative study was conducted to determine the AGIQ metabolite(s) responsible for the discoloration. Female Sprague–Dawley rats were administered dietary AGIQ at doses of 0%, 1.5%, 3.0%, or 5.0% (0, 1735.0, 3480.8, and 5873.7 mg/kg/day, respectively) for 14 days, followed by a 14- or 28-day recovery period. Measurements of quercetin in urine and quercetin, quercetin 3-O-glucuronide, kaempferol, and 3-o-methylquercetin metabolites of AGIQ in bone (femur), white and brown fat, and cerebrum samples were conducted following the exposure period and each recovery period. Gross examination of the femur revealed yellow discoloration that increased in intensity with dose and was still present in a dose-related manner following both recovery periods. Quercetin, at levels correlating with AGIQ dose, was measured in the urine following the 14-day exposure period and, at lower concentrations, 14 or 28 days following cessation of AGIQ exposure. All four metabolites were present in a dose-dependent manner in the femur following 14 days of dietary exposure; only quercetin, quercetin 3-O-glucuronide, and 3-o-methylquercetin were present during the recovery periods. Quercetin, quercetin 3-O-glucuronide, and 3-o-methylquercetin were detected in white fat (along with kaempferol), brown fat (excluding quercetin due to analytical interference), and cerebrum samples, indicating systemic availability of the metabolites. Collectively, these data implicate quercetin, quercetin 3-O-glucuronide, or 3-o-methylquercetin (or a combination thereof) as the most likely metabolite of AGIQ causing the yellow discoloration of bone in rats administered dietary AGIQ.

Waardenburg syndrome type I (WS-I) is a rare autosomal-dominant auditory-pigmentary disorder with limited reports in the Ophthalmic literature.We describe the history, clinical findings and detailed retinal imaging (ultra-widefield fundus images, fundus autofluorescence and optical coherence tomography) from a patient with WS-I.Our patient had a history of white forelock and congenital hearing loss. Ophthalmic examination demonstrated iris heterochromia and highly asymmetric choroidal hypopigmentation, with generalised fundus hyperautofluorescence. Similarly, the patient's mother demonstrated highly asymmetric fundus hypopigmentation. Genetic testing confirmed a pathogenic PAX3 nonsense variant.Our report demonstrates that highly asymmetric choroidal hypopigmentation is within the clinical spectrum of WS-I.OCT: Optical coherence tomography; WS-I: Waardenburg syndrome type 1.

Bedaquiline (BDQ) has been recently approved for drug resistant tuberculosis with active drug safety monitoring under programmatic condition. The present study was conducted to evaluate safety, tolerability and efficacy of bedaquiline plus optimised background regimen.A prospective study was conducted on cohort of pre-extensively drug resistant (XDR) and XDR pulmonary TB patients. Eligible patients were closely monitored for cardiac safety, adverse events (AEs), clinical and microbiological improvement during BDQ (6 months) and post BDQ phase for twelve months.Of 127 patients enrolled, a significant increase in mean QTc interval was observed on 13th day and 3rd week as compared to baseline (p 0.0001). Mean maximum increase of QTc was 37.92ms (95% CI, 14.1-61.74ms). Concomitant anti-TB medications, age, gender, low body mass index (BMI) had significant effect on QTc prolongation (p 0.0001, p 0.05). However, none of the patient required discontinuation of BDQ. Majority of AEs (86.3%) were non-serious and not preventable 108 (87.1%). The median time for sputum-culture conversion was 40.89 ± 3.5 days (95% CI, 34-48 days) and the treatment outcome was successful in 102 (80.3%) patients with negative sputum culture conversion.Bedaquiline containing regimen achieved favourable outcome. Although, bedaquiline along with concomitant anti-TB medications has the potential to prolong QTc interval, the benefit certainly outweighs the risk. This calls for a through pre-treatment cardiovascular and biochemical evaluation as a preventive measure and appropriate selection of patients for safe use of BDQ and successful outcome.

Distally based peroneal artery perforator-plus fasciocutaneous (DPAPF) flaps and distally based posterior tibial artery perforator-plus fasciocutaneous (DPTAPF) flaps are widely used to reconstruct soft-tissue defects of the distal lower leg, ankle, and foot. However, a comparative study of both flaps in a considerable sample size is lacking. This retrospective study aimed to compare the efficacy of the flaps and provide referential evidence for selection of flaps.Between April 2001 and October 2016, 227 patients underwent reconstruction with DPAPF flaps (peroneal group; n = 150) or DPTAPF flaps (posterior tibial group; n = 82). The distal lower leg, ankle, and foot were divided into Zones I and II. Flap viability-related complications and their risk factors, reconstruction outcomes, and donor-site morbidities were compared.In Zone I, the partial necrosis rate was lower in the peroneal group than in the posterior tibial group (p 0.05). In Zone II, the partial necrosis rate was significantly lower in the peroneal group (p 0.05). Significantly lower incidences of donor-site morbidities in terms of hypertrophic scarring, itching, and pigmentation were observed in the peroneal group (p 0.05).The DPAPF flap was superior to the DPTAPF flap with respect to reliability and decreased donor-site morbidities. The former is the recommended preferential choice between the two.

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis caused by mutations in ADAR1. In this study, we performed mutation analysis on a family that included typical DSH patients. No mutations were found in any coding regions or exon-intron boundary regions of ADAR1, but a previously unreported non-coding heterozygous variant, c.-60A>G, was found in the 5' untranslated region (5'UTR) of ADAR1 in the proband and her mother. The function of 5'UTR in mRNA is not well-understood. To understand the pathogenesis of the variant and the function of the 5'UTR of ADAR1, we constructed two reporter genes carrying the ADAR1 5'UTR sequence with/without the variant between the PGK promoter and a luciferase coding sequence, and performed luciferase assays, semi-quantitative PCR analyses, and polysomal assays. In human melanocytes, c.-60A>G induced a 16% reduction in transcription and a 51% reduction in translation. Our results indicate that the 5'UTR c.-60A>G variant adversely affects the post-transcriptional step in gene expression, leading to DSH. Detailed functional assays of the 5'UTR of ADAR1 in the present study revealed the gene expression to be not only downregulated, but also upregulated by defects in 5'UTR depending on the locations. The regulation of translation by 5'UTR is very complicated.

Q-Switched laser devices have been a standard treatment modality for dermal pigmentary disorders since the 1990s. However, the adverse events are sometimes intolerable even if the efficacy has been well accepted. These adverse events stop the patient from continuing the treatment and cause other cosmetic issues. Since 2012, the first picosecond laser for cosmetic applications was approved; it seems promising for treating pigmentary disorders in a new way, but lack strong evidence. We evaluated the efficacy and safety of a 755-nm picosecond laser for treatment of dermal pigmentary disorders in Asians. This is a 2-year retrospective study. We reviewed 36 female cases, including 8 cases of nevus of Ota and 28 cases of acquired bilateral nevus of Ota-like macules. Institutional Review Board (IRB) approval was granted by the Chang Gung Memorial Hospital medical research ethics committee (IRB 201900833B0). The epidemiologic data was collected. These patients have been treated with the 755-nm picosecond laser for 1 to 4 sessions at variable treatment interval. Our parameter settings were fluence of 2.73–3.98 J/cm2, with a spot size of 2.9 to 2.4 mm under the 650-ps mode. The pulse duration is 650 ps and fluence range is from 2.73 to 3.98 J/cm. Photographs were taken prior to every treatment and 1 month following the treatment. Two dermatologists conducted the clinical evaluation independently. Clinical improvement was observed in all with a minimal side effect. A total of 88.89% of patients had moderate to marked improvement in following 1 to 4 sessions. Transient swelling and erythema were observed in all patients but resolved within 24 h. Only one patient (2.78%) developed hypopigmentation and two patients (5.56%) had hyperpigmentation temporarily. Faster clearance could be achieved by the picosecond 755-nm laser for treating dermal pigmentary disorders in Asians. The treatment course is well tolerable and has minimal side effects.

To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual.The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.

A 34-year-old woman visited the general practitioner with a longitudinal brown pigment stripe on her fingernail (melanonychia striata). Histopathological research revealed melanin pigment increase based on lentigo (benign).

The diagnosis of purpuric mycosis fungoides (PMF) is often challenging to be clinically differentiated from inflammatory diseases such as pigmented purpuric dermatosis (PPD). Dermoscopy as a non-invasive method can be employed for the visualisation of features invisible to the naked eye.This study aimed to survey the dermoscopic findings of PMF in comparison with PPD.Forty-one patients with an established diagnosis of PMF (n = 28) and PPD (n = 13) were prospectively recruited. Dermoscopic images were taken by FotoFinder Medicam 1000 (FotoFinder Systems GmbH, Bad Birnbach, Germany).Characteristic dermoscopic patterns consisting of fine short linear vessels (35.7%, P = 0.017) and spermatozoa-like structures (50%, P = 0.014) were found to be significantly more common in PMF lesions, while PPD lesions were typified by erythematous globules (76.9%, P = 0.01), in the background colour of dull red (61.5%, P = 0.01) and reticular pigmentation (61.5%, P = 0.044).This study showed the usefulness of dermoscopy for the diagnosis of PMF and PPD cases. Studies with long-term follow-up are needed to affirm the value of these dermoscopic patterns in the differentiation between the two entities.

Made available in DSpace on 2022-04-29T08:35:47Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-01-01 Oral pigmented lesions can be physiological or pathological, exogenous or endogenous, as well as focal, multifocal, or diffuse. Among them, the oral melanotic macule (OMM) is a small, well-delimited brown-to-black macule, often affecting the lip and gingiva. Amalgam tattoo (AT) is a grey or black area of discoloration on the oral mucosa as a result of entry of dental amalgam into the soft tissues, commonly gingiva and alveolar ridge. Herein, we present a patient with gingival pigmentation with features of both OMM and AT in the same location. Department of Pediatric Dentistry Riberão Preto Dental School (FORP/USP) University of São Paulo, Riberão Preto Department of Diagnosis and Surgery Araraquara Dental School Universidade Estadual Paulista (UNESP) Oral Pathology Department of Stomatology Public Oral Health and Forensic Dentistry Ribeirão Preto Dental School (FORP/USP) University of São Paulo, Riberão Preto Department of Diagnosis and Surgery Araraquara Dental School Universidade Estadual Paulista (UNESP)

Background Although many laser systems have been used in the treatment for Poikiloderma of Civatte (POC), there is no standard treatment guideline. Objectives We aimed to present our data on the efficacy and safety of single-session pro-yellow laser treatment for POC. Methods The study included 14 patients treated with pro-yellow laser (QuadroStarPRO YELLOW(R) Asclepion Laser Technologies, Germany) between 2017 and 2019. Treatment had been applied in two passes during the same session; a general pass with 22 j/cm(2) over the whole lesion, then, one more pass only on the telangiectatic lesions with 18 j/cm(2) fluence. They were evaluated based on their pictures taken before and 4 weeks after the treatment and scored by a 4-item scoring in terms of the improvement (0:no change, 1:1%-25% mild, 2:26%-50% moderate, 3:51%-75% well, and 4:76%-100% excellent improvement). Results The mean age of the patients (1 female, 13 males) was 59.64 +/- 8.16 years. Five patients had Fitzpatrick-2 and 9 patients had Fitzpatrick-3 skin types. Six patients had mild, 8 patients had moderate improvement, one of them has been illustrated in Figure 1. Sixty-minute mild erythema was the only adverse effect observed. Conclusions We think that pro-yellow laser is a good treatment option for POC treatment. Repeated sessions are required for the complete healing of the lesions, while one single session has proved to be deficient. We observed that it was a quite safe treatment option, especially for the neck region, which was inclined to scarring and atrophy development.

BackgroundBilateral Acute Depigmentation of the Iris (BADI) is a condition which was first described in a case series from Turkey by Tugal-Tutkin and Urgancioglu in (Graefes Arch Clin Exp Ophthalmol 244:742-6, 2006). The condition is characterized by bilateral acute depigmentation and discoloration of the iris stroma, pigment dispersion, and deposition of pigment in the angle. In our case we report a patient who developed BADI after receiving pitcher plant extract injections for chronic migraine, while her identical twin sister has normal iris architecture and pigmentation and never received any pitcher plant injections.Case presentationPatient is a 41-year-old female with history of pitcher plant extract injections to her face for chronic migraine, who later developed bilateral depigmentation of the iris. She did not have any signs of anterior segment uveitis or iridocyclitis. She has an identical twin sister who maintained normal iris pigmentation during the entire course.ConclusionsBilateral Acute depigmentation of the is a recently discovered condition described in the literature in Turkish patients (Tugal-Tutkun and Urgancioglu, Graefes Arch Clin Exp Ophthalmol 244:742-6, 2006; Tugal-Tutkun et al., Ophthalmology 116(8):1552-7, 2009). This condition affects mainly young females and is characterized by acute bilateral stromal depigmentation, without other pathologic ocular findings. These patients usually maintain normal vision and do not develop significant glaucoma from pigment collecting in the anterior chamber angle. This condition can be mistaken for Fuchs’ heterochromic iridocyclitis, pigment dispersion syndrome, pseudoexfoliation syndrome, and viral iridocyclitis. This is the first reported case in North America and is important for differentiation from the above pathologies. Our patient had a history of pitcher plant extract injections to the face but it is unclear if this is associated with our patient’s development of BADI. As awareness of this condition progresses, a possible etiology may be elucidated.

In P63-related ectodermal dysplasias (ED), the clinical characteristics focus on extra-cutaneous manifestations. The dermatological phenotype remains incompletely characterized. We report the dermatological features of 22 patients carrying a TP63 mutation. Erosions, erythroderma and pigmentary anomalies are characteristics of P63-related ED. Our data suggest that patients might be classified into two major P63-related disorders: AEC and EEC. RHS and ADULT represent mild AEC and EEC forms, respectively.

Appearance of mosaic disorders in thin Blaschko lines suggests that somatic mutations in keratinocyte precursors underlie their pathogenesis. Germline heterozygous mutations in POFUT1 gene cause Dowling-Degos disease (DDD), a skin disease that features flexural reticulated hyperpigmentation and follicular-based lesions. POFUT1 mosaicism has not been described to date. Here, we describe a 9-year-old female with segmental hyper- and hypopigmented patches with overlying eczematous plaques and follicular papules. Employing paired whole exome sequencing of saliva and keratinocytes isolated from affected skin, we found a novel germline heterozygous POFUT1 deletion causing frameshift and premature codon termination and somatic copy-neutral loss of heterozygosity on chromosome 20 encompassing POFUT1. Expression levels of POFUT1 as well as other key regulators of the notch signaling pathway-NOTCH1, NOTCH2, and HES1-were reduced in affected keratinocytes compared with normal keratinocytes. Our findings provide the first evidence of POFUT1 postzygotic mutation and a phenotypic expansion of POFUT1 loss of function mutations. We show that a recessive loss of function mutation in POFUT1 produces a distinct clinical presentation with features (e.g., dermatitis) that are absent in the generalized form of DDD. This study demonstrates how analysis of mosaic disorders can reveal unexpected phenotypes for known genes.

BACKGROUND The exact etiology of premature hair graying (PHG) remains unknown; however, oxidative stress is shown to be involved. Selenium, as an antioxidant, is widely known for its antiaging potentials. Moreover, PGH is more prevalent among addicts and because Lead is a common impurity found in illegal drug. AIMS We evaluated the serum levels of lead and selenium in patients with PHG and compared it with a control group. PATIENTS/METHODS In this cross-sectional study, 60 patients referred to Dermatology Clinic of Imam-Reza Hospital of Mashhad, Iran in 2015 were evaluated in two groups with and without PHG. Demographic information and disease characteristics, skin phenotype, and family history of PHG were recorded. Furthermore, 5 mL of brachial blood was drawn for measuring selenium and lead levels. RESULTS The mean patients' age was 28.1 ± 4.8 years. Age, sex, occupation, and skin phenotype in individuals with and without PHG were not significantly different (P > .05) but family history of PHG was significantly higher in the patients with PHG (P = .001). Similarly, the number of white hairs was significantly higher (P

Background Nail matrix histopathologic examination is still the criterion standard to diagnose longitudinal melanonychia (LM). Objective To introduce modified shave surgery combined with the nail window technique for managing LM and evaluate the postoperative outcome of the procedure. Methods We retrospectively reviewed the medical records of 67 patients with LM who underwent shave surgery combined with the longitudinal-strip nail window technique at our institution from March 2015 to June 2018. Results Pathologic diagnosis was accessible in all cases, and 60 cases were assessable for the postoperative outcomes. A total of 45 cases (75.0%) had no postoperative nail dystrophy, and recurrence of nail pigmentation was found in only 8 cases (13.3%). Limitations This was a retrospective study. Conclusion Modified shave surgery combined with the nail window technique is the preferable management for LM cases, with limited postoperative nail dystrophy and recurrence of pigmentation.

Background Pigmentation is one of the few major characteristics according to which scars are evaluated. Data on the treatment of the hyperpigmented component of scars are sparse. Objective The authors aimed at evaluating the efficacy of the fractional 1,064-nm neodymium-doped yttrium aluminum garnet (Nd:YAG) picosecond laser in the treatment of the hyperpigmented component of scars. Methods Sixteen patients with hyperpigmented scars underwent 3 to 8 treatment sessions at 3- to 6-week intervals with the 1,064-nm Nd:YAG picosecond laser (PicoWay, Candela, Resolve handpiece). The treatment response was evaluated by 2 noninvolved dermatologists on a global assessment scale (GAS) of 1 to 4. A Mexameter quantitatively evaluated the melanin content of the scar before and after laser treatments. Results The average GAS score of the 2 noninvolved dermatologists was 3.31 ± 0.57. The patients assessed their level of tolerance as good or excellent and their satisfaction level as moderate or high. The Mexameter showed that the melanin index decreased considerably (by 39.11 ± 11.58%) in all patients after treatment. Conclusion The fractionated nonablative picosecond Nd:YAG laser was effective for the treatment of the hyperpigmented component of scars.

Background: Regular exposure to ultraviolet rays is high in India, where most Indians present Fitzpatrick skin phototypes IV and V. Aims: To evaluate the efficacy and compare the effectiveness of two sunscreen products on Indian skin types IV and V with pigmentation irregularities. Methods: A randomized, uncontrolled and investigator-blinded, single-center study enrolled adult men and women (18–45 years) with Fitzpatrick skin phototypes IV (28° < individual typological angle

To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders. All patients had severely reduced pigmentation of skin, hair, and eyes with iris transillumination over 360 degrees. Three unrelated OCA4 patients had normal VA, no nystagmus, no foveal hypoplasia, and no misrouting of the visual pathways. Six patients had poor visual acuity (0.6 to 1.0 logMAR), nystagmus, severe foveal hypoplasia and misrouting. We found two novel variants in the SLC45A2 gene, c.310C > T; (p.Pro104Ser), and c.1368 + 3_1368 + 9del; (p.?). OCA4 patients of this Dutch cohort all had hypopigmentation of skin, hair, and iris translucency. However, patients were either severely affected with regard to visual acuity, foveal hypoplasia, and misrouting, or visually not affected at all. We describe for the first time OCA4 patients with an evident lack of pigmentation, but normal visual acuity, normal foveal development and absence of misrouting. This implies that absence of melanin does not invariably lead to foveal hypoplasia and abnormal routing of the visual pathways.

Background Nevus depigmentosus (ND) is an uncommon congenital nonprogressive hypopigmented skin disorder that can be seen anywhere on the body. We considered other depigmenting disorders and focused on distinguishing ND from vitiligo and tuberous sclerosis complex in infancy. Methods The diagnosis of patients with nevus depigmentosus was made differentiating it from nevus anemicus, pityriasis alba, tuberous sclerosis complex, vitiligo and other depigmenting disorders. Results Of the 37 individuals with nevus depigmentosus evaluated, 36 were children, twenty-two (59.4%) were males and 15 (40.5%) were females, with male to female ratio 1.4:1. Conclusions Distinguishing ND from other disorders with depigmentation can be challenging, in particular in case of tuberous sclerosis complex and vitiligo in infancy.

OBJECTIVE To establish a visual assessment scale for the severity of dark circles' pigmented and vascular type in Chinese women. MATERIALS AND METHOD A total of 269 healthy Chinese women from Shanghai with different degrees of dark circles', both pigmented and vascular types, were evaluated by visual assessment. Photographs of their dark circles were analyzed by image analysis. RESULTS The visual assessment evaluation on classification and severity showed a favorable agreement between the successive measured results. Significant differences from very slight to severe dark circles for pigmented type and vascular type were observed. The severity level by visual assessment was significantly positively correlated with ΔE values while negatively correlated with ΔL values (P

Background Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hyper‐ and hypo‐pigmented macules on the face, trunk, and extremities. The condition causes severe cosmetic problem which can lead to significant psychological distress to the patients and bear a negative impact on society. DUH is a condition with genetic heterogeneity. The SASH1 gene was recently identified as pathogenic genes in DUH patients. Methods Two families clinically diagnosed with dyschromatosis universalis hereditaria were enrolled. Whole‐exome sequencing combined with Sanger sequencing and bioinformatics analysis was performed in the probands. MutationTaster, CADD, SIFT, PolyPhen‐2, and LRT software, and The American College of Medical Genetics and Genomics Standards and Guidelines were employed to assess the pathogenicity of detected missense mutations. One hundred healthy unrelated Chinese individuals were used as controls. All participants signed an informed consent form. Results Genetic screening revealed a heterozygous SASH1 c.1547G>A (p.Ser516Asn) mutation for patients in family 1, and SASH1 c.1547G>T (p.Ser516Ile) for family 2. Both such de novo mutations are located in a highly conserved SLY domain in SASH1, have not been previously reported in any publication, and were not detected in any control databases. Conclusions The novel heterozygous mutations, SASH1 c.1547G>A and c.1547G>T, are likely responsible for the DUH phenotype in these two families. Our study expands the mutation spectrum of DUH. Whole‐exome sequencing showed its efficiency in the diagnostic of hereditary skin disorders., Genetic screening revealed a heterozygous SASH1 c.1547G>A (p.Ser516Asn) mutation for patients in family 1, and SASH1 c.1547G>T (p.Ser516Ile) for family 2. Both such de novo mutations are located in a highly conserved SLY domain in SASH1, have not been previously reported in any publication, and were not detected in any control databases.

Myosins are molecular motors that are well known for their role in cell movement and contractile functions. Although extensively studied in muscle physiology, little is known about the function of myosins in mammalian skin. As part of the Sanger Institute Mouse Genetics Project, we have identified a role for Myo10 in pigmentation, with a phenotype unlike those of Myo5a or Myo7a. Adult mice homozygous for a disrupted Myo10 allele on a C57BL/6N background displayed a high degree of penetrance for white patches on their abdomen and dorsal surface. Forepaw syndactyly and hind paw syndactyly were also observed in these mice. Tail epidermal wholemounts showed a complete lack of melanocytes in the hair follicles and interfollicular epidermis. Myo10 has previously been implicated in human pigmentation. Our current study reveals involvement of Myo10 in murine skin pigmentation.

BackgroundChemotherapy medications are reported to cause discoloration of the nails known as melanonychia. Depending on the nail structure affected and the severity of the insult, the clinical features can be variable. There are a great deal of unreported cases of pigmentary nail changes associated with chemotherapy treatment. By sharing our knowledge, we hope to raise the awareness of these nail changes amongst clinicians. Early recognition is crucial to allay anxiety among patients and avoid any unnecessary investigations.Case presentationWe present a case of 36-year-old woman of south Asian origin, who developed dark pigmentation in the left thumb nail during neoadjuvant chemotherapy with 5-fluorouracil, epirubicin, cyclophosphamide, and docetaxel (FEC-D) for triple negative breast cancer. Upon examination, the left thumb nail pigmentation was strikingly linear, uniform, and well demarcated extending from proximal nail fold to free margin. Despite the reassuring clinical features, the patient was understandably anxious that this could be a presentation of acral melanoma and was referred to the plastic surgeons for a nail matrix biopsy. Biopsy reassuringly was reported as melanosis and a diagnosis of striate melanonychia was made. The patient was discharged after 2-year follow-up.ConclusionChemotherapy medications have improved survival rates and patient outcomes. It is important for clinicians to be aware of the association of melanonychia with certain chemotherapy medications to reduce anxiety and allow successful management of these patients without delay. Striate melanonychia in this patient was felt most likely due to the synergistic effect of chemotherapy drugs compounded with racial predisposition. Chemotherapy agents most likely to have contributed include cyclophosphamide, docetaxel, and 5-fluorouracil.

A 61-year-old Caucasian female patient presented with erythematous–violaceous purpuric macules and punctiform papules, involving the dorsum of the feet and the legs, evolving for 1 month. The lesions were mildly pruritic and non-blanchable ([figure 1][1]). Her medical history includes

We present the case of a 92-year-old woman, with bullous pemphigoid (BP) and a concomitant nevus comedonicus (NC) presenting as an asymptomatic, linear lesion of the entire lower left limb, formed by multiple comedones. Dermoscopy of the NC and histopathology confirmed the clinical and dermoscopic suspect of giant congenital nevus comedonicus. The two entities presented no overlap. In this article, we speculate that a mutation of the NEK9 gene, associated with NC, probably altering the normal follicular differentiation in NC lesions, may hypothetically also influence the expression of BPAG2 in NC. This might possibly influence a protective role of NC lesions towards BP. Undoubtedly, genetic studies would be needed to confirm or reject the proposed hypothesis.

Skin pigmentation is associated with skin damages and skin cancers, and ultraviolet (UV) photography is used as a minimally invasive mean for the assessment of pigmentation. Since UV photography equipment is not usually available in general practice, technologies emphasizing pigmentation in color photo images are desired for daily care. We propose a new method using conditional generative adversarial networks, named UV-photo Net, to generate synthetic UV images from color photo images. Evaluations using color and UV photo image pairs taken by a UV photography system demonstrated that pigment spots were well reproduced in synthetic UV images by UV-photo Net, and some of the reproduced pigment spots were difficult to be recognized in color photo images. In the pigment spot detection analysis, the rate of pigment spot areas in cheek regions for synthetic UV images was highly correlated with the rate for UV photo images (Pearson’s correlation coefficient 0.92). We also demonstrated that UV-photo Net was effective for floating up pigment spots for photo images taken by a smartphone camera. UV-photo Net enables an easy assessment of pigmentation from color photo images and will promote self-care of skin damages and early signs of skin cancers for preventive medicine.

SUMMARY OBJECTIVE: Oculocutaneous albinism describes a group of pigmentary disorders that lead to skin sensitivity and predisposition to skin malignances. Aims: To analyze clinical and epidemiological data in oculocutaneous albinism patients and to determine the prevalence of malignant skin lesions, assessing possible risk factors for skin cancer. METHODS: Cross-sectional study evaluating epidemiological data, habits of sun exposure and sun protection, and clinical examination of albino patients followed in a reference dermatology outpatient clinic in Brasil. Our primary outcome was the occurrence of malignant skin lesions in biopsied tissues. RESULTS: Of 74 patients analyzed, 11 (15%) had one or more suspicious lesions and were biopsied, of which 8 (72.7%) patients presented with basal cell carcinomas, 7 (63.3%) presented with squamous cell carcinoma, and 1 (9%) presented with melanoma. Moreover, 32(43%) patients presented with actinic keratosis. Age, female gender, previous history of sunburn, history of malignant lesions and history of sun exposure without photoprotection were associated with the presence of malignant lesions. Limitations: Unicentric, non-aleatory sample. CONCLUSIONS: There was a high prevalence of malignant and pre-malignant lesions in this population. Some potentially modifiable risk factors were associated with the occurrence of malignant skin lesions.

Cutaneous pigmentation due to the arthropod, Cydnidae (a.k.a. burrowing bug), is increasingly being reported in the literature. The transient nature of this pigmentation probably contributes to its underreporting. We report a case of an 8-year-old girl with a sudden onset of hyperpigmented lesions on her index finger, face, and neck due to burrowing bugs. We propose the term "transient pseudo-lentigines sign" to better describe this fleeting arthropod-induced pigmentation.

Background Pigmented purpuric dermatoses (PPD) can clinically mimic many diseases. Histopathology provides a definitive diagnosis. The aim of the study is to reveal the features of patients with PPD and to determine the disease frequency in the differential diagnosis, especially mycosis fungoides (MF). Methods We retrospectively reviewed records of patients with PPD admitted to our hospital from January 2010 to May 2019. We studied the histopathological features of 127 patients, and performed pattern analysis on cases with a confirmed histopathologic diagnosis of PPD. Among the cases presenting with clinical features of PPD, but displaying different histopathological diagnoses, we focused on MF and tried to clarify the features of PPD-like MF. Results Overall, 389 patients were admitted to our hospital with PPD symptoms. Of them, 262 patients were diagnosed clinically and a histopathological examination was performed in 127 patients. Of 127, 87 were diagnosed with PPD, and in the remaining 40, non-specific features (9.4%), vasculitis (6.2%), pityriasis rosea (4.7%), MF (3.9%), suspected-MF (1.5%), and other dermatoses (%5.5) were detected. The biopsy findings of two patients showed PPD, but during follow-up, the diagnosis of MF was established. Conclusions MF should be included in the differential diagnosis of PPD cases presenting with longstanding and widespread involvement.

Background Parafunctional oral habits are known to cause deleterious effects on maxillofacial structures. One such effect is traumatic injuries secondary to chewing inanimate objects like pencils. Following trauma, the lead of the pencil has been reported to embed in the soft tissue of the oral cavity, appearing as a grayish pigmentation (graphite tattoo). However, such pigmentation has never been reported in the hard tissue (teeth). Case presentation We hereby report an interesting, first of its kind case in a four-year-old female child. She had been misdiagnosed and referred for the management of a carious tooth; which was, in reality, an exogenous deposit. Conclusions The authors highlight the impact of comprehensive history taking on arriving at the diagnosis. Counselling of the child and the parents goes a long way in flouting such deleterious habits.

Amalgam tattoos are a serious cosmetic problem for patients. A 35-year-old woman came to a private periodontal practice complaining of black pigmentation (amalgam tattoo) above temporary crowns on the lateral and central maxillary incisors and asked that the cosmetic problem be solved before the new permanent crowns were cemented into place. A full-thickness coronoapical incision was made to raise a thick flap; another incision parallel to the surface of the alveolar mucosa made it possible to remove the pigmented connective tissue, which was sent for histologic examination. Due to the fact that the pigmentation extended into the gingival epithelium, the gingiva of the lateral and central incisors was completely removed, with a horizontal incision in the alveolar mucosa from the ends of the distal releasing incisions. Therefore, partially denuded alveolar bone was used as the recipient site for a free gingival graft (FGG). The histologic analysis revealed the presence of amalgam fragments of different sizes in both connective tissue and epithelium. At 6 months, 3 years, and 24 years postoperatively, the periodontal tissues appeared healthy, and the treated area was pink, without pigmentation or scarring, and was perfectly integrated with the adjacent tissues. The patient was very pleased with her appearance. A one-stage procedure, namely an FGG, should be considered an effective treatment of amalgam tattoo providing positive morphologic and cosmetic outcomes over a 24-year follow-up period.