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Acne is a common cause for post-inflammatory hyperpigmentation (PIH), particularly in patients with skin of color (SOC), and PIH is often more distressing to patients than the acne itself. Topical retinoids are approved for the treatment of acne and for pigmentation disorders such as melasma or mottled hyperpigmentation associated with photodamage; moreover, they have been shown to reduce hyperpigmentation in patients with SOC. Therefore, treatment with topical retinoids should be started as early as possible unless contraindicated. Use of novel formulations or application of commonly recommended moisturizers may help reduce irritation. Combining retinoids with other topical agents and procedures such as superficial chemical peels can help to improve hyperpigmentation. Primary acne lesions are likely to improve weeks before PIH resolves and helping patients manage their expectations may reduce frustration. Providing clinicians and researchers with more education about the presentation and management of dermatologic conditions in patients with SOC is also recommended.

Pseudomelanosis duodeni is a rare condition characterized by the endoscopic appearance of diffuse dark pigmentation of the duodenal mucosa. It is typically seen in older women and has been reported to be associated with hypertension, chronic renal disease, diabetes mellitus, gastrointestinal hemorrhage, and the use of medications such as oral iron, furosemide, thiazide, hydralazine, and propranolol. We present a case of pseudomelanosis duodeni appearing after 2 years of oral iron therapy in an 85-year-old woman. Although oral iron supplementation seemed the strongest possible etiology, our patient had multiple comorbidities and was on other medications that have been described as associations. The majority of individuals taking oral iron or under these clinical conditions do not develop this entity; some other factors in patients may be responsible for its occurrence.

Laugier-Hunziker syndrome being a rare pigmentation disorder chiefly involving lips and nails has so far been coincidentally diagnosed. In Nepal, Laugier-Hunziker syndrome has not been reviewed very well, and no case has been reported in the literature till date. To the best of our knowledge, the current report is the only one in the Nepalese scientific community but addressing the age of the patient it stands with a diagnostic quandary.

Coat colour in livestock speciesis one of the most distinctive traits that characterise many different breeds. Pigmentation does not affect only skin and hairs but also the eyes. Few genomic studies in cattle and horses also investigated iris pigmentation, but no similar studies was conducted in pigs thus far. In this study we analysed eye colour diversity in a Large White pig population (n=897) and reported the results of genome-wide association studies based on several comparisonsincluding pigs having four main eye colour categories(three with both pigmented eyes of different brown grades: pale, 17.9%; medium, 14.8%; and dark, 54.3%; another one with both eyes completely depigmented, 3.8%) and heterochromia patterns (heterochromia iridis, i.e. depigmented iris sectors in pigmented irises, 3.2%; heterochromia iridium, i.e. a whole eye iris of depigmented phenotype and the other eye with the iris completely pigmented, 5.9%). Pigs were genotyped with the Illumina PorcineSNP60 BeadChip and GEMMA was used for the association analyses. The results indicated that the eye pigmented patterns (different grades of brown pigmentation), the total absence of pigmentation in the both eyes, and heterochromia iridis defect were under controlled of SLC45A2 (on chromosome 16, SSC16), EDNRB (SSC11) and KITLG (SSC5), respectively. In addition, to new candidate associations for the eye depigmented patterns were also identified for SNPs on two SSC4 regions (including two candidate genes: NOTCH2 and PREX2) and on SSC6, SSC8 and SSC14 (including COL17A1 as candidate gene). This study provided useful information to understand the genetic mechanisms affecting eye pigmentation in pigs.

As a main part of pigmentation disorders, skin depigmentation diseases such as vitiligo and achromic naevus are very common and get more attention now. The pathogenesis of depigmentation includes melanocyte dysfunction and loss, which are possibly caused by heredity, autoimmunity and oxidative stress. Among them, oxidative stress plays a key role; however, few clinical treatments can deal with oxidative stress. As reported, Cistanche deserticola polysaccharide (CDP) is an effective antioxidant; based on that, we evaluated its role in melanocyte and further revealed the mechanisms. In this study, we found that CDP could promote melanogenesis in human epidermal melanocytes (HEMs) and mouse melanoma B16F10 cells, it also induced pigmentation in zebrafish. Furthermore, CDP could activate mitogen‐activated protein kinase (MAPK) signal pathway, then up‐regulated the expression of microphthalmia‐associated transcription factor (MITF) and downstream genes TYR, TRP1, TRP2 and RAB27A. Otherwise, we found that CDP could attenuate H2O2‐induced cytotoxicity and apoptosis in melanocytes. Further evidence revealed that CDP could enhance NRF2/HO‐1 antioxidant pathway and scavenge intracellular ROS. In summary, CDP can promote melanogenesis and prevent melanocytes from oxidative stress injury, suggesting that CDP helps maintain the normal status of melanocytes. Thus, CDP may be a novel drug for the treatment of depigmentation diseases., Cistanche deserticola polysaccharide (CDP) promotes melanogenesis in human epidermal melanocytes via activating mitogen‐activated protein kinase (MAPK) signal pathway, then up‐regulates the expression of MITF, TYR, TRP1, TRP2, and RAB27A. Otherwise, CDP can attenuate H2O2‐induced oxidative stress in melanocytes via enhancing NRF2/HO‐1 antioxidant pathway and scavenge intracellular ROS.

Background Vitiligo is a relatively common pigmentation disorder in which the skin melanocytes are lost or destroyed. Experimental downregulation of long noncoding RNA H19 (lnc RNA H19) in keratinocytes promoted melanocytes melanogenesis. lnc RNA H19 acts as an important regulator for micro-RNA let7a (miRNA let7a). miRNA let7a has a powerful role in regulation of cell survival and inducing cell apoptosis. Objectives This study was performed to clarify the suggested role of lnc RNA H19 and miRNA let7a derived from human skin exosomes in vitiligo pathogenesis. Patients and methods The study included 50 patients with vitiligo vulgaris and 50 healthy volunteers serving as controls. From all patients, 4-mm punch skin biopsies were taken. Skin biopsies were examined for lnc RNA H19 and miRNA let7a genes expression using RT-PCR technique. Results The expression of lnc RNA H19 and miRNA let7a in vitiligo lesions (1.736±0.84 and 6.7±2.26 pg/mg, respectively) was significantly higher than their expression in controls (0.8462±0.3483 and 1.514± 0.9202 pg/mg, respectively) (P

Background Melasma is a complex and multipathophysiological condition that is challenging to treat. The roles of each element in the dermis were highlighted in this recent year due to targeting it with emerging therapies. Although some studies have demonstrated abnormal findings in the dermis of melasma lesions, there are no integrated data regarding these findings. Purpose This article aims to discuss each finding in the dermis of melasma lesions and to provide some ideas about treatment options. Methods An Internet search was completed using the MEDLINE, Embase, Scopus, and Google Scholar databases for relevant literature through June 2021 and reference lists of respective articles. Only the articles published in English language were included. Results Several studies have focused on the dermal changes in melasma. Common findings included basement membrane disruption, pendulous melanocytes, marked solar elastosis, increased melanophages, increased mast cells, and neovascularization. In addition, each of them had the specified mechanism that may relate with the others. Conclusion Several changes in the dermis of melasma lesion may be connected with pathological changes in the epidermis. This may serve as a potential target treatment for melasma, which requires a multimodal approach.

Introduction: Melasma is one of the common hyper pigmentation disorders presenting with symmetrical brownish black patches on sun-exposed areas. Many studies have been conducted to determine the relationship between Melasma and thyroid autoimmunity. Aims and objectives: to evaluate the relationship between thyroid profile and Melasma patients Materials and Methods: A case control study was carried out evaluating thyroid status (serum T3, T4 and TSH) in 50 patients with Melasma and 50 individuals without Melasma. Statistical analysis was done. Results: a total of 100 patients including both men and women were enrolled in the study. The age group was 20-50 years. The F: M ratio was 7:1 in both cases and controls. Five (5) patients in the Melasma group and three (3) patients in the control group showed hypothyroidism. Conclusion: There is a suspicion in associating Melasma and thyroid disorders. Keywords: Melasma hypothyroidism autoimmunity thyroid function tests, Thyroid stimulating hormone.

Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultraviolet radiation and are at increased risk of actinic damage and skin cancer. In Brazil, as in other parts of the world, albinism remains a little known disorder, both in relation to epidemiological data and to phenotypic and genotypic variation. In several regions of the country, individuals with albinism have no access to resources or specialized medical care, and are often neglected and deprived of social inclusion. Brazil is a tropical country, with a high incidence of solar radiation during the year nationwide. Consequently, actinic damage and skin cancer occur early and have a high incidence in this population, often leading to premature death. Skin monitoring of these patients and immediate therapeutic interventions have a positive impact in reducing the morbidity and mortality associated with this condition. Health education is important to inform albinos and their families, the general population, educators, medical professionals, and public agencies about the particularities of this genetic condition. The aim of this article is to present a review of the epidemiological, clinical, genetic, and psychosocial characteristics of albinism, with a focus in skin changes caused by this rare pigmentation disorder.

Objective Vitiligo is a common pigmentation disorder of the skin, and its pathogenesis remains unclear. We evaluated the effectiveness of compound glycyrrhizin combined with fractional carbon dioxide (CO2) laser and triamcinolone acetonide solution in patients with vitiligo. Methods Patients with stable vitiligo treated at our hospital between May 2016 and August 2017 were randomized to a control group or an observation group. Both groups were treated with fractional CO2 laser and triamcinolone acetonide solution, while the observation group also received compound glycyrrhizin. Clinical effectiveness, serum IL-17 and TGF-β levels, and adverse drug reactions were compared between the groups. Results Following treatment, the clinical effective rate was significantly higher in the observation group than in the control group (75.00% vs. 52.50%). Furthermore, IL-17 decreased in both groups but was significantly lower in the observation group, while TGF-β increased in both groups but was significantly higher in the observation group. The incidence of adverse drug reactions was not significantly different between the groups. Conclusion Compound glycyrrhizin in combination with fractional CO2 laser and triamcinolone acetonide solution can be used to treat vitiligo and appears to modulate cytokine levels. Trial registration: Hebei Provincial Administration of Traditional Chinese Medicine (no. 2019366; http://www.hebwst.gov.cn/index.do?templet=cs_zyj )

Pseudo-albinism is a pigmentation disorder observed in flatfish aquaculture with a complex, multi-factor aetiology. We tested the hypothesis that pigmentation abnormalities are an overt signal of more generalised modifications in tissue structure and function, using as a model the Senegalese sole and two important innate immune barriers, the skin and intestine, and their microbiomes. Stereological analyses in pseudo-albino sole revealed a significantly increased mucous cell number in skin (P

Piebaldism is a genetic pigmentation disorder, which is caused by absence of melanocytes in parts of the skin and/or hair follicles, with eyes and claws normally pigmented. The occurrence of piebaldism in natural populations is rare and the effects on fitness are still unknown. This article reports the first case of pigmentation disorders in the Fringe-lipped BatTrachops cirrhosus(Spix, 1823) (Chiroptera: Phyllostomidae) caught in Barra do Triunfo, city of João Neiva, northeastern state of Espírito Santo, southeast Brazil.

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.

Background: Exposure to Sulfur Mustard (SM) leads to short- and long-term adverse effects on various organs, including the skin. Despite several studies on long-term clinical manifestations of skin toxicity in SM-exposed individuals, the pathogenesis of SM-induced skin disorders is not fully understood. Materials and Methods: As part of Sardasht-Iran Cohort Study (SICS), this study aimed to find out the possibility of any correlation between the serums level of Nitric Oxide (NO) and skin problems due to the long-term effect of SM as well as the kind of skin illness. In this historical cohort study, 372 male SM-exposed subjects and 128 age-matched unexposed controls were studied. Clinical evaluation was carried out for all participants, and their serum concentration of NO was measured. Results: According to our results, the Mean±SD serum level of NO in the exposed group with skin disorders were significantly higher than that in the exposed group without skin disorders (1483.00±488.754µg/mL vs. 1364.50±487.887µg/mL; P=0.024). Also, among the exposed group, there was a significant elevation of serum NO associated with the type of lesion. For ezxample, specific lesions like mustard scar were associated with higher levels of NO compared to non-specific lesions like xerosis, itching, seborrheic dermatitis, etc. Also, a significant elevation in serum NO levels was found in the exposed subjects with pigmentation disorders (both hypo- and hyper-pigmentation) compared to the exposed participants without these skin problems (PConclusion: Our results show the highest serum level of NO in the exposed group with specific lesions and the lowest or normal level of NO in the unexposed group with no skin illness. The elevated serum levels of NO may be associated with the progression of some skin complications in the SM-exposed subjects. This finding serves as a basis for further research on the molecular mechanisms and pathways involved in the pathogenesis of skin disorders in SM-exposed patients.

Background Skin pigmentation disorders in systemic sclerosis (SSc) have been sparsely described in the literature. Nevertheless, they could be a diagnostic and/or severity marker. Objectives To assess the association between pigmentation disorders and systemic involvement in patients with SSc. Methods A total of 5 patterns of skin pigmentation disorders were defined: diffuse hyperpigmentation; hyperpigmentation of sun-exposed areas; hypopigmentation of the head, neck, and/or upper part of the chest; acral hypopigmentation; and diffuse hypopigmentation. Results A total of 239 patients were included; 88 patients (36.8%) had skin pigmentation disorders as follows: diffuse hyperpigmentation and hyperpigmentation of sun-exposed areas in 38.6% (n = 34) and 27.3% (n = 24) of patients, respectively; hypopigmentation of the face, neck, and/or chest in 10.2% of patients (n = 9); diffuse hypopigmentation in 12.5% (n = 11); and acral hypopigmentation in 17% (n = 15). Diffuse hyperpigmentation was associated with diffuse SSc (P = .001), increased modified Rodnan skin score (P = .001), and shorter duration of Raynaud phenomenon (P = .002) in univariate analysis but not in multivariate analysis. Moreover, diffuse hyperpigmentation was associated with digital ulcers (P = .005), as confirmed by multivariate analysis (odds ratio, 2.96; 95% confidence interval, 1.28-6.89). Limitations This was a single-center retrospective study of a cohort of patients with SSc. Conclusion Screening for skin pigmentation disorders could be useful in the management of patients with SSc to identify those with a high risk of development of digital ulcers, which is a symptom of vascular involvement in SSc.

Skin color is determined by the processes of melanin synthesis and distribution. Problems in various molecules or signaling pathways involved in melanin synthesis contribute to skin pigmentation defects. Several trials have been conducted on the production of pigmentation-regulating agents, and drug repositioning has emerged as a modern technique to identify new uses for existing drugs. Our research team has researched substances or drugs associated with pigmentation control and, as a result, nilotinib, sorafenib, and ICG-001 have been found to promote pigmentation, while 5-iodotubercidin inhibits pigmentation. Therefore, these substances or medications were suggested as potential therapeutics for pigmentation disorders by drug repositioning.

Background The diagnosis of porokeratosis can be challenging, and knowledge about its dermoscopic features is limited. Objectives To describe the dermoscopic features of porokeratosis of Mibelli and disseminated superficial actinic porokeratosis (DSAP) and the frequency of these features in a larger case series. The interobserver concordance was also assessed. Methods In this retrospective cohort study, members of the International Dermoscopy Society contributed macroscopic and dermoscopic images of histopathologically verified cases of porokeratosis of Mibelli or DSAP. Three observers independently reviewed the collected images to identify the presence of predefined dermoscopic features. Following this, a consensus meeting was held to agree upon which dermoscopic features were present in each lesion. Results In total, 78 clinical and dermoscopic images of porokeratoses were collected. The most common dermoscopic feature was keratin rim, which was present in 74 lesions (92.3%). The most common vascular structures were dotted or glomerular vessels which were present in almost half of the cases (48.7%). Other relatively frequent dermoscopic findings were as follows: non-peripheral scales (44.9%), grey-brown dots or pigmentation along the keratin rim (38.5%), and light-brown pigmentation within the keratin rim (33.3%). Shiny white structures and blood spots or erosions along the keratin rim were findings never before described in porokeratosis and were detected in 16.7% and 17.9% of the lesions, respectively. Dermoscopic findings in porokeratosis of Mibelli and DSAP were similar except for fewer blood spots or erosions along the keratin rim and more light-brown pigmentation within the keratin rim in DSAP. The interobserver concordance ranged from 0.44 (moderate) to 0.84 (almost perfect). Conclusions The dermoscopic hallmark of porokeratosis is the keratin rim, a finding also allowing for almost perfect interobserver agreement. Pigmentation or erosions along the keratin rim, vascular structures, as well as scales, pigmentation or shiny white structures within the keratin rim are additional dermoscopic clues.

The LATS1 kinase has been described as a tumor suppressor in various cancers. However, its role in melanoma has not been fully elucidated. There are several processes involved in tumorigenesis, including melanin production. Melanin content positively correlates with the level of reactive oxygen species (ROS) inside the cell. Accordingly, the purpose of the study was to assess the role of LATS1 in melanogenesis and oxidative stress and its influence on tumor growth. We have knocked down LATS1 in primary melanocytes and melanoma cells and found that its expression is crucial for melanin synthesis, ROS production, and oxidative stress response. We showed that LATS1 ablation significantly decreased the melanogenesis markers’ expression and melanin synthesis in melanocyte and melanoma cell lines. Moreover, silencing LATS1 resulted in enhanced oxidative stress. Reduced melanin content in LATS1 knocked down tumors was associated with increased tumor growth, pointing to melanin’s protective role in this process. The study demonstrated that LATS1 is highly engaged in melanogenesis and oxidative stress control and affects melanoma growth. Our results may find the implications in the diagnosis and treatment of pigmentation disorders, including melanoma.

The effects of sun exposure on the skin and specifically those related to pigmentation disorders are well known. It has recently been shown that blue light leads to the induction of oxidative stress and long-lasting pigmentation. The protective effect of an aqueous extract of Polypodium leucotomos (Fernblock®) is known. Our aim was to investigate the action mechanism of Fernblock® against pigmentation induced by blue light from digital devices. Human fibroblasts (HDF) and murine melanocytes (B16-F10) were exposed to artificial blue light (a 400–500 nm LED lamp). Cell viability, mitochondrial morphology, and the expression of the mitogen-activated protein kinase (MAPK) p38, known markers involved in the melanogenesis pathway, were evaluated. The activation of Opsin-3, a membrane protein sensitive to blue light that triggers the activation of the enzyme tyrosinase responsible for melanogenesis in melanocytes, was also analyzed. Our results demonstrated that pretreatment with Fernblock® prevents cell death, alteration of mitochondrial morphology, and phosphorylation of p38 in HDF exposed to blue light. In addition, Fernblock® significantly reduced the activation of Opsin-3 in melanocytes and the photo-oxidation of melanin, preventing its photodegradation. In sum, Fernblock® exerts beneficial effects against the detrimental impact of blue light from digital devices and could prevent early photoaging, while maintaining skin homeostasis.

Background: BRAF (v-raf murine sarcoma viral oncogene homolog B1) and MEK (mitogen activated protein kinase) inhibitors, as well as immunotherapy against cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) and the programmed cell death 1 (PD-1) receptor and its ligand (PD-L1), have shown good results in improving the disease-free survival of patients with metastatic melanoma (MM). The aim of this review is to summarize the main oral adverse events (oAEs) occurring in patients undergoing target or immunotherapy. We proposed two separate sections: oAEs during the treatment with (1) target therapies with BRAF and MEK inhibitors and tyrosine kinase inhibitors (gingival hyperplasia, pigmentation disorders, squamo-proliferative lesions) and (2) immunotherapies with CTLA-4 or PD1 inhibitors (lichenoid reactions, immuno-bullous reactions, xerostomia and other reactions). Adverse events frequently include oAEs, although these are often misdiagnosed and under-reported. Indeed, the oral cavity is not routinely evaluated during clinical practice. The symptomatology related to oAEs is significant since it may represent the first manifestation of a severe systemic reaction, possibly leading to difficulties in nutrition with a consequent impact on patients’ quality of life. A careful examination of the oral cavity is recommended during the evaluation of oncologic patients in order to promptly detect the onset of new manifestations.

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.

The pathophysiological mechanism underlying benign paroxysmal positional vertigo (BPPV) is related to free-floating debris/otoliths in the semicircular canal (canalolithiasis) or debris/otoliths attached to the cupula (cupulolithiasis). These debris/otoliths are considered to originally accumulate after detachment from the neuroepithelium of the utricular macula secondary to a type of degeneration. An idiopathic form, which is assumed to occur spontaneously, is diagnosed when the causative pathology is obscure. However, an association between various other systemic or inner ear conditions and BPPV has been reported, indicating the existence of secondary BPPV. This study was performed to present the first review of the pathology underlying BPPV following a complete PubMed/Medline search. In total, 1932 articles published from 1975 to 2018 were reviewed. The articles were classified according to 17 potentially causative factors (aging; migraine; Meniere’s disease; infection; trauma; idiopathic sudden sensorineural hearing loss; sleeping habits; osteoporosis and vitamin D insufficiency; hyperglycemia and diabetes mellitus; chronic head and neck pain; vestibule or semicircular canal pathology; pigmentation disorders; estrogen deficiency; neurological disorders; autoimmune, inflammatory, or rheumatologic disorders; familial or genetic predisposition; and allergy). A discussion of the underlying cause of BPPV for each factor is presented.

PReCIS:: In a case-control study, skin pigmentation was not statistically significantly different when comparing glaucoma patients to those without glaucoma. Purpose Darker skin color has been implicated as a risk factor for glaucoma based on previous studies' subjective assessments of skin pigmentation. This study used objective measurements to determine whether cutaneous pigmentation is a risk factor for glaucoma. Methods This case-control study was conducted at Menelik II Tertiary Referral Hospital in Addis Ababa, Ethiopia. Patients aged 40 years or older from the glaucoma clinic who were being scheduled for trabeculectomy were enrolled as cases and age-matched patients without glaucoma from other clinics at Menelik II Tertiary Referral Hospital were enrolled as controls. A Dermacatch device was used to capture melanin measurements in triplicate from the inner arm of each participant. The exposure variable of interest was the median of the triplicate skin melanin measurements, in arbitrary units. The outcome of interest was presence of glaucoma. Results Agreement between the triplicate inner arm melanin measurements was high, with an intraclass correlation of 0.99 (95% confidence interval, 0.98-0.99). Mean melanin values were 704 units (SD 94) in 76 cases and 694 units (SD 93) in 152 controls. Melanin was not statistically significantly associated with glaucoma after adjusting for sex and season of measurement (ie, dry vs. rainy), with an odds ratio of 1.15 (95% confidence interval, 0.59-2.24) per 100 units of inner arm melanin. Conclusion This study failed to find a significant association between skin pigmentation and glaucoma using an objective and reproducible assessment of pigmentation.

ABSTRACT INTRODUCTIONSubungual haemorrhage describes blood located between the nail matrix and nail plate caused by trauma. Lack of recalled trauma and long duration of nail pigmentation results in specialist referrals to rule out malignant pathology. AIMThis report aims to describe the macroscopic and dermoscopic characteristics of subungual haemorrhage and to highlight its clinical differentiation from melanocytic lesions. METHODSNinety-eight nails were assessed. Pigmentation in fifty-nine was due to subungual haemorrhage and was melanocytic in the remainder (identified by a longitudinal pigmented band). RESULTSPigmentation in subungual haemorrhage had a clear proximal margin (73%) and the dermoscopic pattern was homogenous (97%), globular (78%) or streaky (34%). Features included peripheral fading (68%) and periungual haemorrhage (5%). Malignancy could be excluded in these cases by careful clinical evaluation. DISCUSSIONA combination of macroscopic and dermoscopic characteristics help make a confident diagnosis of subungual haemorrhage. A two-stage process can aid clinical diagnosis by looking for known features of subungual haemorrhage and identifying absence of malignant features.

t- Griscelli syndrome (GS) is a rare autosomal recessive disease that affects hair, skin, and immune system. Here, we describe an 8.5-month-old infant with multiple admissions due to fever, petechial purpura, and several recurrent vomiting episodes with a presumptive diagnosis of recurrent sepsis. He was born from parents with consanguineous marriage. The initial examinations revealed huge splenomegaly and hepatomegaly without any source of infection. Laboratory tests revealed a hemophagocytic lymphohistiocytosis (HLH) like a picture with a high blood level of ferritin in all episodes, but the bone marrow test result was normal. Although he had normal hair and skin pigmentation on physical examination, the accumulation of melanosomes was found in his hair shafts on microscopic investigations. Eventually, a genetic test revealed a mutation in the RAB27A gene, which confirmed GS-II diagnosis. Our case is the first case of GS-II from Iran without any apparent clinical features of GS, such as hypopigmented skin and silvery-gray hair. Therefore, a genetic test, together with the microscopic examination of hair and skin, is necessary for the diagnosis and confirmation of GS-II. Since GS-II is an autosomal recessive disorder and consanguineous marriages are popular in Iran, premarital genetic counseling is recommended for this region.

Background: Vitiligo is an acquired and commonly found pigmentation disorder characterized by milky-white patches on the skin, hair, and mucosa due to melanocyte damage. The cause of vitiligo is still unclear. A study proves that cell-mediated immunity plays a role in the pathogenesis of vitiligo. Melan-A is a melanoma-related antigen that is recognized by autologous cytotoxic T cells and one of the critical markers for detecting melanocytes. Objective: To evaluate the expression of Melan-A in depigmented lesions of vitiligo patients. Methods: A descriptive study aimed to describe the expression of Melan-A in the depigmented skin of vitiligo patients at the Dermatovenerology Outpatient Clinic Cosmetic Division of Academic General Hospital Dr. Soetomo Surabaya. Eleven study subjects were selected through a sequence of selection. Results: Melan-A expression in the depigmented skin of vitiligo patients was lower than the average. This result was found in 6 (54.55%) out of 11 patients. Conclusion: Melan-A expressions on depigmented skins of vitiligo patients are generally below the average value; therefore, adequate intervention is needed to increase the Melan-A expression.

This chapter provides an overview of the epidemiology, pathophysiology, course, measurement, and potential therapies for pigmentation disorders in scars. Pigmentation problems are a common consequence of deep partial- and full-thickness burns, other skin trauma or disease, and surgical procedures. Both hypopigmentation and hyperpigmentation can cause esthetic and psychological issues, which may influence quality of life. The role of melanocytes and the maturation of pigmentation problems are discussed. To determine the severity of pigmentation problems and for therapeutic evaluation, different subjective and objective methods have been validated. Simple and easy-to-use measurement instruments are available based on spectrophotometric techniques. Also scar assessment scales with subscales for color and pigmentation are convenient and validated methods for quantitative evaluation of skin pigment disorders. Treatment options are discussed and include camouflage therapy, topical treatments, chemical peels, laser therapy, dermatography, dermabrasion, microneedling, skin grafting, cell therapy, and excision. It is advised to first try the conservative options and to dose and monitor the treatment to prevent overshoot and complications.

Introduction Xanthelasma palpebrarum (XP) is a common xanthomatous lesion of the eyelid and periorbital skin. Several methods of treatment have been reported in the literature, each having its own indications and risks. We present a new treatment method for removing XP using a plasma exeresis device (Plexr®, GMV, Italy). Methods Fifteen patients with a total of 27 treated XPs were assessed and clinically identified by the treating dermatologist. Patients were photographed and assessed by a dermatologist prior to and immediately after treatment. A patient survey was conducted 12 months after the procedure, which assessed the outcome of the procedure (redness, pigmentation disorders, and scars). Results After just a single treatment session using a plasma sublimation, all 27 XPs showed complete clearance. There were no reports of scars, pigmentary alteration, or recurrence of lesions up to 12 months. Conclusions We present plasma sublimation as a new method for the treatment of XP. During the procedure, the method allows to control the depth of tissue destruction and the presence of xanthoma tissue, and to minimize pain and trauma, making it particularly ideal for treating areas around the eye.

Purpura is defined as a visible hemorrhage in the skin or mucosa, which is not evanescent upon pressure. Proper classification allows a better patient approach due to its multiple diagnoses. Purpuras can be categorized by size, morphology, and other characteristics. The course varies according to the etiology, as do the diagnostic approach and treatment. This review discusses pigmented purpuras and some cutaneous vascular occlusion syndromes.

Aims: To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH). Methods: We enrolled 8 Chinese patients with familial DSH, 5 Chinese patients with sporadic DSH, and 100 randomly selected healthy individuals in this study. The genome of each participant was extracted from peripheral blood samples. Sanger sequencing of the ADAR1 gene was performed after polymerase chain reaction amplifications. Comparisons between the DNA sequences of the affected individuals and the NCBI database were performed. Results: We detected eight novel heterozygous mutations and five previously reported mutations in the ADAR1 gene in our patients. The novel mutations include c.1934 + 3A>G, c.2749A>G, c.2311insA, c.3233G>A, c.3019 + 1G>T, c.2894C>A, c.1202_1205del, and c.2280C>A. These detected novel mutations are predicted to induce two frame-shift mutations, one nonsense mutation, three missense mutations, and two splice-site mutations. Conclusions: The findings of this study expand our knowledge of the range of ADAR1 gene mutations in DSH and will contribute to identifying correlations between the various DSH phenotypes and genotypes. Furthermore, they may provide insight into the underlying pathogenic mechanism.

Immunotherapy with checkpoint inhibitors significantly improves the outcome for stage III and IV melanoma. Cutaneous adverse events during treatment are often reported. We herein aim to review the principal pigmentation changes induced by immune check-point inhibitors: the appearance of vitiligo, the Sutton phenomenon, melanosis and hair and nail toxicities.

Introduction and objective Vitiligo is a chronic autoimmune skin disease caused by the destruction of melanocytes. Although quality of life (QOL) in vitiligo has been studied in different countries, it has not yet been investigated in Mexico. The aim of this study was to assess the QOL of Mexican patients with vitiligo. Material and method We conducted a cross-sectional study at the research unit of Centro Dermatologico Dr. Ladislao de la Pascua in Mexico City. We included adults with vitiligo and excluded those with other pigmentation disorders or a neurological or psychiatric disorder. Patients on psychoactive medications were also excluded. All the patients were administered the Dermatology Life Quality Index (DLQI), a vitiligo-specific quality of life instrument (the VitiQoL), and the Beck Depression and Anxiety Inventories. Results We studied 150 patients with vitiligo (103 women [68.7%] and 47 men [31.3%]). The median (interquartile range) age was 38 (20) years. The mean (SD) scores on the DLQI and VitiQoL were 5.2 (5.4) and 32.1 (22.7) out of total possible scores of 30 and 90, respectively. The correlation between questionnaire scores was 0.675 ( P P Conclusion Vitiligo has a minimal impact on the QOL of our patients. QOL was worse in patients with genital lesions.

International audience; Tyrosinase-related protein 1 (TYRP1) is one of three tyrosinase-like glycoenzymes in human melanocytes that are key to the production of melanin, the compound responsible for the pigmentation of skin, eye, and hair. Difficulties with producing these enzymes in pure form have hampered the understanding of their activity and the effect of mutations that cause albinism and pigmentation disorders. Herein we show that the typical tyrosinase-like subdomain of TYRP1 contains two zinc ions in the active site instead of copper ions as found in tyrosinases, which explains why TYRP1 does not exhibit tyrosinase redox activity. In addition, the structures reveal for the first time that the Cys-rich subdomain, which is unique to vertebrate melanogenic proteins, has an epidermal growth factor-like fold and is tightly associated with the tyrosinase subdomain. Our structures suggest that most albinism-related mutations of TYRP1 affect its stability or activity