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Pediatric dermatologists are frequently consulted to evaluate children for cutaneous signs of systemic disorders. Numerical thresholds of significance have been described in the dermatologic literature for various skin findings where the likelihood of an associated extracutaneous abnormality or known genetic syndrome increases significantly. Knowledge of these numerical thresholds facilitates diagnosis and management, which improves clinical outcomes and avoids severe complications. This review highlights the clinical presentation, complications, evaluation, and numerical significance, when applicable, for the following skin findings: infantile hemangiomas, capillary malformations, café‐au‐lait macules, hypopigmented macules, juvenile xanthogranulomas, pilomatricomas, and angiofibromas. [ABSTRACT FROM AUTHOR]

Objective Methods Results Conclusion The objective of this study is to assess the correspondence, in live conditions, between clinical gradings of facial aging signs by three dermatologists and those afforded by an automatic AI‐based algorithm that analyses smartphones' selfie images of Chinese subjects.In total, 125 Chinese subjects of both genders, aged 18–62y, took a selfie using their own smartphones and were immediately viewed by three dermatologists. The latter graded the severity of 15 facial signs in women and 9 in men, using the standardized values afforded by a Skin Aging Atlas referential dedicated to Asian skin. The data issued by both methodologies were then statistically compared.The absolute gradings of the automatic system were found highly correlated with clinical assessments, with lower values in most cases. In women, large differences in absolute values were found on the gradings for size of isolated spot, cheek fold, spread macules, and texture of mouth contour women. Analysis of the Mean Absolute Errors (M.A.E) revealed that these rarely exceed 0.6 grading units in women and to a lesser extent in men.The present study confirmed the value of the automatic system towards an extended use towards large human cohorts as a surrogate of clinical evaluations and allowed to detect the points where improvements must be brought to the system. [ABSTRACT FROM AUTHOR]

Background Aims Methods Results Conclusions The picosecond neodymium yttrium aluminum garnet laser (PNYL) has been successfully used in treating acquired bilateral nevus of Ota‐like macules (ABNOM). The 730‐nm picosecond titanium sapphire laser (PTSL) is an emerging tool for pigmentary disorders. However, no studies have compared two different wavelengths of picosecond laser for the treatment of ABNOM.To compare the efficacy and safety of the 730‐nm PTSL with the 1064‐nm PNYL in the treatment of ABNOM.Fifteen participants with ABNOM were randomized to undergo a single session of either the 730‐nm PTSL on one side of the face and 1064‐nm PNYL on the other side. Efficacy and safety assessments were performed by blinded visual evaluations at baseline, 12 weeks, and 24 weeks posttreatment. Participants' satisfaction and adverse effects were recorded.Compared to baseline, The 730‐nm PTSL‐treated side showed better improvement than that of the 1064‐nm PNYL‐treated side at 24 weeks posttreatment (1.67 ± 1.047 vs. 0.87 ± 0.640, p = 0.027). There were no significant differences in pain sensation and participants' satisfaction between the two laser treatments.The 730‐nm PTSL is more effective than the 1064‐nm PNYL in the treatment of ABNOM. [ABSTRACT FROM AUTHOR]

Of patients with a Noonan syndrome phenotype, only about 1% are found to be related to pathological variants in CBL, also known as Noonan syndrome‐like disorder (NSLD). We present a case of a 4‐year‐old boy diagnosed with NSLD, presenting with multiple melanocytic nevi and superficial neurofibromas. A literature review identified common cutaneous findings of NSLD, for example, café‐au‐lait macules (22%), juvenile xanthogranuloma (16%), and thin hair (10%). As there are no documented cases of neurofibromas associated with NSLD, and only a single report of multiple melanocytic nevi, inclusion of these features in the phenotype may be warranted and mitigate the necessity for future biopsies in other children. [ABSTRACT FROM AUTHOR]

Dermoscopy aids in the diagnosis and management of pigmented growths and disorders of pigmentation in children. However, there is limited literature on the dermoscopic appearance of café‐au‐lait macules (CALMs) and congenital melanocytic nevi in patients with dark skin. We report two cases of young children with dark skin and many hyperpigmented patches in whom dermoscopy was utilized to accurately diagnose CALMs and facilitate testing for neurofibromatosis. [ABSTRACT FROM AUTHOR]

Aicardi–Goutières syndrome 6 (AGS6) is a serious auto-immunization-associated acute neurologic decompensation. AGS6 manifests as acute onset of severe generalized dystonia of limbs and developmental regression secondary to febrile illness mostly. Dyschromatosis symmetrica hereditaria (DSH), as pigmentary genodermatosis, is a characterized mixture of hyperpigmented and hypopigmented macules. Both AGS6 and DSH are associated with ADAR1 pathogenic variants. To explore the etiology of a proband with developmental regression with mixture of hyperpigmentation and hypopigmentation macules, we used the trio-WES. Later, to clarify the association between variants and diseases, we used guidelines of ACMG for variants interpretation and quantitative Real-time PCR for verifying elevated expression levels of interferon-stimulated genes, separately. By WES, we detected 2 variants in ADAR1 and a variant in TSC2, respectively, were NM_001111.5:c.1096_1097del, NM_001111.5:c.518A>G, and NM_000548.5:c.1864C>T. Variants interpretation suggested that these 3 variants were both pathogenic. Expression levels of interferon-stimulated genes also elevated as expected. We verified the co-occurrence of pathogenic variants of ADAR1 and TSC2 in AGS6 patients with DSH. Our works contributed to the elucidation of ADAR1 pathogenic mechanism, given the specific pathogenic mechanism of ADAR1, and it is necessary to consider with caution when variants were found in ADAR1. [ABSTRACT FROM AUTHOR]

Background: Vitiligo is an inveterate disease of great aesthetic concern presenting with depigmented macules and patches. It is often incorrigible to medical treatment. Aim: To study the clinical profile of vitiligo patients and evaluate the effect of 5% 5‑fluorouracil (5‑FU) cream with microneedling. Materials and Methods: This observational analytical study was conducted from November 2019 to July 2021. A total of 33 adult vitiligo patients were treated with oral mini‑pulse (dexamethasone) therapy and topical corticosteroid (clobetasol propionate 0.05%). Patient’s total number of vitiligo lesions with <10‑cm size were counted and half of the lesions were treated with 5‑FU + microneedling (Group A), while a remaining number of lesions were not treated with 5‑FU + microneedling (Group B). In the case of the odd number of lesions, the total number of lesions minus one was considered and then divided into equal numbers for treatment. The procedure was performed every 2 weeks for 3 months. Clinical improvement was assessed monthly till 6 months by serial clinical photographs and grading scores. Results: Initiation of repigmentation started in the first month in Group A, whereas in Group B, it was seen in the second, which was statistically significant (P < 0.0001). Excellent improvement (>75% repigmentation) was noted in Group A as compared to Group B at the end of 6 months (P < 0.0001). Conclusions: Needling with 5% 5‑FU appears to be a simple, safe, and effective treatment in vitiligo. It can be used in poor responders to conventional therapy. [ABSTRACT FROM AUTHOR]

Macular amyloidosis (MA) is a primary localized cutaneous amyloidosis, characterized by amyloid deposition in the papillary dermis. The clinical presentation includes pruritic hyperpigmented macules and patches with a reticulated or rippled pattern, primarily found on the upper back and extremities. Biopsy is an essential diagnostic tool for confirming MA. This systematic review focused on the biopsy outcomes in patients diagnosed with MA. [ABSTRACT FROM AUTHOR]

Idiopathic eruptive macular pigmentation (IEMP) is a rare, benign, self‐resolving melanosis consisting of hyperpigmented macules typically on the face, trunk, and extremities that can occur in children and adolescents and often presents a diagnostic conundrum. We report a case involving an 8‐year‐old female whose previous clinical presentation was concerning for an atypical presentation of cutaneous mastocytosis or neurofibromatosis. The clinical and histopathologic evaluation was consistent with the diagnosis of IEMP, and no active intervention was pursued. Our accompanying literature review serves to better characterize this condition, highlight key diagnostic features, and emphasize the tendency for spontaneous resolution to avoid unnecessary treatments with limited clinical efficacy. [ABSTRACT FROM AUTHOR]

Background: Studies indicate that 6% to 20% of feline patients have at least one dermatopathy. Hypothesis/Objective: This retrospective study aimed to provide comprehensive information about the types of skin diseases, diagnosis methods, treatments and follow‐up data in a hospital population of domestic cats in Iran. Animals/Materials and Methods: The present survey of clinical observations was conducted on the medical records of 1825 individual cats brought to the Faculty of Veterinary Medicine, Ferdowsi University of Mashhad (Iran) over a 12‐year period (2009–2020). Results: Feline dermatoses accounted for 154 (8.43%) of the 1,825 cats examined during the study period. The most prevalent dermatological manifestations in the studied population of 154 were erythema, macules, papules and/or pustules (36; 23.37%), alopecia (18; 11.68%) and erosive/ulcerative lesions (17; 11.03%). Specific dermatological diagnoses made were the following (in descending order, of 154): dermatophytosis (34; 22.07%), subcutaneous abscesses (16; 10.38%), atopic skin syndrome/environmental allergies (20; 10.38%), external parasites (15; 9.74%), otitis (10; 6.49%), flea infestation (6; 3.89%), food allergy (4; 2.59%) and primary pyoderma (2; 1.29%). Most lesions were observed in the head/face of cats (41 of 154; 26.62%) and their ears (39; 25.32%). Following treatment, 86 of 154 cats (69.35%) had complete remissions, 17 cats faced recurrent dermatoses and the owners of 21 cats were not satisfied. Conclusions and Clinical Relevance: The prevalence of dermatoses among this cohort of Iranian cats is similar to that in other parts of the world. However, a noticeable difference was detected in the most prevalent dermatoses. To the best of our knowledge, this is the first study to assess the characteristics and outcomes of feline dermatological conditions in Iran. Background – Studies indicate that 6%–20% of feline patients have at least one dermatopathy. Objective – This retrospective study aimed to provide comprehensive information about the types of skin diseases, diagnosis methods, treatments and follow‐up data in a hospital population of domestic cats in Iran. Conclusions and Clinical Relevance – The prevalence of dermatoses among this cohort of Iranian cats is similar to that in other parts of the world. However, a noticeable difference was detected in the most prevalent dermatoses. To the best of our knowledge, this is the first study to assess the characteristics and outcomes of feline dermatological conditions in Iran. [ABSTRACT FROM AUTHOR]

Background: Tuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of radiology and gene testing, the diagnostic criteria for TSC were updated in 2012 at the International Consensus Conference. Intraoral fibromas have long been associated with TSC. However, the incidence of giant cell angiofibroma (GCA) in TSC patients is extremely rare. Here, we report the first case of GCA in the gingival tissue of a patient with TSC. Case presentation: A 41-year-old woman first visited the Department of Oral and Maxillofacial Surgery, Chonnam National University Dental Hospital, complaining of gingival enlargement. Clinical examination revealed several manifestations associated with TSC, including intraoral fibromas, facial angiofibromas, dental enamel pits, ungual fibromas, "confetti" skin lesions, hypomelanotic macules, and a shagreen patch. Intraoral examination revealed a 6.0 × 5.0 cm gingival overgrowth on the left mandible. Surgical excision was performed, and subsequent histopathological examination confirmed the diagnosis of GCA. There was no evidence of recurrence within the 24- months of surgery. Conclusions: We report the first case of GCA in the gingival tissue of a patient with TSC. This report would contribute to an improved understanding of this rare disease. However, further case reports are necessary to clarify the relationship between GCA and TSC. [ABSTRACT FROM AUTHOR]

Galli–Galli disease (GGD) is a rare genodermatosis that exhibits autosomal dominant inheritance with variable penetrance. GGD typically manifests with erythematous macules, papules, and reticulate hyperpigmentation in flexural areas. A distinct atypical variant exists, which features brown macules predominantly on the trunk, lower limbs, and extremities, with a notable absence of the hallmark reticulated hyperpigmentation in flexural areas. This review includes a detailed literature search and examines cases since GGD's first description in 1982. It aims to synthesize the current knowledge on GGD, covering its etiology, clinical presentation, histopathology, diagnosis, and treatment. A significant aspect of this review is the exploration of the genetic, histopathological, and clinical parallels between GGD and Dowling-Degos disease (DDD), which is another rare autosomal dominant genodermatosis, particularly focusing on their shared mutations in the KRT5 and POGLUT1 genes. This supports the hypothesis that GGD and DDD may be different phenotypic expressions of the same pathological condition, although they have traditionally been recognized as separate entities, with suprabasal acantholysis being a distinctive feature of GGD. Lastly, this review discusses the existing treatment approaches, underscoring the absence of established guidelines and the limited effectiveness of various treatments. [ABSTRACT FROM AUTHOR]

Background: Reflectance confocal microscopy (RCM) has a defined in vivo morphology of vitiligo and re-pigmentation. Combination therapies seem more effective than monotherapies. Objective: We aim to describe the clinical and RCM features of re-pigmentation with combined narrowband ultraviolet B (NB-UVB) and piperine-based topical treatment in localized vitiligo. Methods: Eight patients enrolled at a single center received combined treatment: topical treatment was applied twice daily + NB-UVB twice weekly for 2 × 2-month periods. Clinical changes were analyzed by the Vitiligo Noticeability Scale (VNS) and percentage of re-pigmentation. The evaluator agreement was assessed. Predefined RCM features had the presence/absence of (i) blood vessels, (ii) dendritic cells, and the quantity of (i) an irregular honeycombed pattern and (ii) non-pigmented papillae. Clinical and RCM monitoring was performed at the baseline, 2, 3, 5, and 7 months. Results: Macules were "slightly less noticeable" with 25–50% re-pigmentation. Irregular honeycomb patterns and non-pigmented papillae were significantly less frequently observed, and in less extended areas (T1 vs. T2, p = 0.039; T0 vs. T1, p = 0.005 and T2 vs. T4, p = 0.033). Dendritic cells and blood vessels improved, with significant changes in blood vessels (T1 vs. T2, p = 0.005 and T3 vs. T4, p = 0.008). Conclusions: RCM confirms the morphological changes induced by combined treatment for localized vitiligo. [ABSTRACT FROM AUTHOR]

Piebaldism is a rare genetic disorder caused by KIT mutations and clinically characterized by fixed depigmented patches throughout the body. Herein, a case of piebaldism in which the depigmented patches regressed as the patient grew older, along with the development of multiple café-au-lait macules, is described. The likely pathogenic, heterozygous KIT c.1991-2A>G variant was detected as the potential cause of this unusual piebaldism phenotype. This case provides new knowledge on genotype-phenotype correlation of KIT mutations for piebaldism etiology and presentation. [ABSTRACT FROM AUTHOR]

Evidence of fungal coexistence in humans points towards fungal adaptation to the host environment, like the skin. The human commensal Malassezia has evolved, especially residing in sebum-rich areas of the mammalian body where it can get the necessary nutrition for its survival. This fungus is primarily responsible for skin diseases like Pityriasis versicolor (PV), characterized by hypo or hyperpigmented skin discoloration and erythematous macules. In this manuscript, we report a 19-year-old healthy female who presented with a one-year history of reddish, hypopigmented, asymptomatic lesions over the chest and a raised erythematous lesion over the face. Upon clinical observation, the patient displayed multiple erythematous macules and erythematous papules over the bilateral malar area of the face, along with multiple hypopigmented scaly macules present on the chest and back. Based on the above clinical findings, a diagnosis of PV and Acne vulgaris (AV) was made. Interestingly, the patient was immunocompetent and didn't have any comorbidities. Upon isolation of skin scrapings and post-culturing, we found the existence of three fungal genera in the same region of the patient's body. We further went on to confirm the identity of the particular species and found it to represent Malassezia, Rhodotorula, and Candida. We report how Malassezia, the predominant microbial resident skin fungus, coexists with other fungal members of the skin mycobiome. This study on an applied aspect of microbiology also shows how important it is to identify the fungal organism associated with skin infections so that appropriate therapeutics can be advised to avoid cases of relapse. Key points: Identification of fungal species in skin infection is of utmost importance. In this report we show the existence of 3 fungal genera from the same infection site. Proper identification will help deliver appropriate therapeutics and prevent cases of relapse. [ABSTRACT FROM AUTHOR]

The pathogenesis of dyschromatosis symmetrica hereditaria (DSH) has not been well defined. In this study, we sought to investigate the influence of the ADAR1 gene on DSH both in vitro and in vivo. Morpholino knockdown of adar1 in zebrafish produced phenotypes characterized by polarity changes, and abnormal migration and distribution of melanocytes. Differential expression of C‐KIT and distinct patterns of apoptosis between hyperpigmented and hypopigmented areas in DSH patient were detected by means of immunohistochemical methods and TUNEL assays, respectively. This study revealed that adar1 knockdown in a zebrafish model resulted in abnormal migration and changes in the cell polarity of melanocytes, and provided novel insight into the mechanism of DSH pathogenesis. [ABSTRACT FROM AUTHOR]

Abstract is missing (Short communication)

A 2‐month‐old male with surgically resected sacral chordoma presented with multiple hypopigmented macules showing characteristic patchy, sharply demarcated areas of pigment network on dermoscopy. These dermoscopic findings were suggestive of the ash‐leaf macules of tuberous sclerosis over other common hypopigmented macules in neonates. Chordomas presenting in early childhood in the sacral location have been reported as a rare manifestation of tuberous sclerosis complex. The combination of these findings led to a diagnosis of tuberous sclerosis, confirmed with the finding of a heterozygous TSC2 gene deletion; treatment with sirolimus resulted in regression of cardiac rhabdomyomas and hypopigmented macules. [ABSTRACT FROM AUTHOR]

Tuberous sclerosis complex (TSC), known as Bourneville’s disease or epiloia, is an autosomal dominant inherited disorder that may affect numerous organ systems. TSC has many forms of clinical presentation. The cutaneous features of TSC include facial angiofibromas, shagreen patches, ash leaf hypopigmented macules, periungual fibromas, forehead fibrous plaques, confetti hypopigmentation, and poliosis. Rarely, the angiofibromas in TSC have a segmental distribution. It has been suggested that the segmental expression of tuberous sclerosis may result from a postzygotic mutation. The aim of this concise communication was to describe a patient with unilateral angiofibromas associated with a hypopigmented patch. No other features of TSC were present. We think this could have been a rare presentation of TSC. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. Here, we present the case of an NF1 patient with 47,XYY mosaicism whose diagnosis was prompted by café-au-lait macules on the skin and mandibular neurofibromas. Targeted next-generation sequencing of the patient's blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant. [ABSTRACT FROM AUTHOR]

Malignancies may induce clinical sequelae distant from the sites of the tumor. Such paraneoplastic phenomena are known to affect many organs, including the skin. Vitiligo is a disorder of patchy depigmentation, appearing as white macules with distinct margins. Rarely, vitiligo has been reported as a paraneoplastic occurrence, in the settings of pituitary adenoma, thymoma, gastric carcinoma, and lymphoma. We now describe a man presenting with the abrupt onset of vitiligo on the hands coinciding with recurrence of adrenocortical carcinoma (ACC) in the abdomen. The vitiligo rapidly dissipated following resection of his cancer. We believe this to be the first report of paraneoplastic vitiligo associated with ACC. Endocrinologists typically manage ACC and should be aware of this link, as the de novo observation of vitiligo may signal the onset or recurrence of underlying tumor. Other practitioners that encounter patients with new vitiligo should add ACC to their differential diagnosis of potential underlying conditions. [ABSTRACT FROM AUTHOR]

Becker's nevus (BN) is a kind of epidermal cutaneous hamartoma. A noticeable hyperpigmented patch with a big, unilateral, hyperpigmented macule and irregularly shaped borders is the manner in which BN often presents. In this case, a 16-year-old boy has asymptomatic dark brown colored follicular macule on the left side of the cheek shortly after birth. The lesions were initially inconspicuous but gradually became darker as time passed. The macules on some of them grew hair. This case of BN with apparent hypertrichosis on one side of the cheek, which made it challenging to make a differential diagnosis with whiskers. The primary point of differentiation is that the lesions of BN only appear unilaterally. On the other hand, the face has whiskers on both sides. Additionally, BN will show hyperpigmentation whereas whiskers do not. In conclusion, for its unusual clinical presentation, we believe that reporting this case may help dermatologists avoid misdiagnosing similar cases. [ABSTRACT FROM AUTHOR]

An 11-year-old girl was referred to a dermatology clinic for a rash on her legs and feet that appeared when she stood for longer periods and resolved when sitting or lying down. She also experienced leg numbness while sitting in vehicles. After extensive evaluation, the patient was diagnosed with BASCULE syndrome, a rare condition characterized by vasomotor dysfunction in the distal regions of the body. The syndrome presents with hypopigmented macules on a cyanotic background, and symptoms are relieved upon postural changes. Treatment options for BASCULE syndrome are limited, but H1 antihistamines may provide some relief. It is important to recognize this condition to avoid unnecessary diagnostic workup. [Extracted from the article]

Linear and whorled nevoid hypermelanosis is a rare skin pigmentation disorder, characterized by linear streaks and whorls of hyperpigmented macules along Blaschko's lines. Lesions are commonly restricted to the trunk, neck, and extremities, sparing the face, palms, soles, and mucosae. Associated with this, certain cardiovascular, musculoskeletal, neurological, and developmental anomalies have been reported in the literature. Herein, we present a rare case of linear and whorled nevoid hypermelanosis involving the face, with musculoskeletal, genital, aural, and ocular abnormalities. [ABSTRACT FROM AUTHOR]

Many pathogenic microorganisms can induce a complex series of immunologic, endothelial-cell and cascades activation and dysfunctions. These events induce the development of hypersensitivity vasculitis. Case report: We report the case of 13 years-old girl with hypersensitivity vasculitis, which developed during the course of a mixed infection with beta-hemolytic streptococcus and EBV infection. A month before hospitalization the girl had two episodes of purulent tonsillitis for which she received antibiotic treatment. After a week period without complains she is presented again with high temperature, chills, photophobia, insomnia, muscle pains, maculopapular rash that involves the body and suppurative tonsillitis. In the next days haemorrhagic macules, papules and patches appeared on the face, neck, legs, billateral conjunctival ecchymosis, epistaxis and tonsillar hemorrhage. The medical condition manifests with deteriorated condition of the child, septic fever, generalized lymphadenopathy and hepatosplenomegaly. The clinical presentation is enriched with symptoms of acute nephritic syndrome. There is a history of several tick bites and contact with dogs, without clinical evidence for Erythema migrans. Conclusions: This case is a demonstration of a severe clinical course of Hypersensitivity vasculitis with acute nephritic syndrome as a result of the identified co-infection beta-hemolytic streptococcus and EBV infection. The clinical course is due to the development of complicated pathogenic and immunologic mechanisms. The positive serology for B. Burgdorferi without the presentation of the specific symptoms of Lyme disease is due to cross reaction. Longterm clinical and laboratory follow-up showed complete recovery. [ABSTRACT FROM AUTHOR]

Mycosis fungoides (MF) is a subtype of cutaneous T-cell lymphoma (CTCL) and a primary cutaneous lymphoma. Poikilodermatous MF (PMF) is a rare clinical variant of MF. Systemic chemotherapy, such as methotrexate (MTX), may be administered as monotherapy or in combination at low doses in MF. A 64-year-old man with PMF has been reported. History and physical examination revealed hyperpigmented and hypopigmented macules on the chest, abdomen, both arms, back, and upper legs, along with erythematous macules on the right medial thigh. The diagnosis of PMF is based on clinical manifestations and histopathological features of atypical lymphocyte cell infiltration in the epidermis. In addition, immunohistochemical examination also supports the MF diagnosis. The patient received chemotherapy consisting of monotherapy with MTX at low doses. During the third month of observation following MTX therapy, a few of the hyperpigmented and hypopigmented macules appeared to have diminished; some of the erythematous macules had transformed into hyperpigmented macules, and there were no new lesions. The purpose of therapy is to control the disease. Administration of low-dose MTX as a monotherapy may result in clinical improvement, but further observation is necessary. PMF may have a better prognosis than other clinical variants of MF. [ABSTRACT FROM AUTHOR]

GNAS-activating somatic mutations give rise to Fibrous Dysplasia/McCune–Albright syndrome (FD/MAS). The low specificity of extra-skeletal signs of MAS and the mosaic status of the mutations generate some difficulties for a proper diagnosis. We studied the clinical and molecular statuses of 40 patients referred with a clinical suspicion of FD/MAS to provide some clues. GNAS was sequenced using both Sanger and Next-Generation Sequencing (NGS). We were able to identify the pathogenic variants in 25% of the patients. Most of them were identified in the affected tissue, but not in blood. Additionally, NGS demonstrated the ability to detect more patients with mosaicism (8/34) than Sanger sequencing (4/39). Even if in some cases, the clinical information was not complete, we confirmed that, as in previous works, when the patients were young children with a single manifestation, such as hyperpigmented skin macules or precocious puberty, the molecular diagnosis was usually negative. In conclusion, as FD/MAS is caused by mosaic variants, it is essential to use sensitive techniques that allow for the detection of low percentages and to choose the right tissue to study. When not possible, and due to the low positive genetic rate, patients with FD/MAS should only be genetically tested when the clinical diagnosis is really uncertain. [ABSTRACT FROM AUTHOR]

Senear-Usher syndrome is a localized variant of pemphigus foliaceus, rare, with a chronic course, manifested by well-defined erythematous squamous plaques, with a seborrheic appearance and distribution, which adopts a butterfly-wing pattern resembling cutaneous lupus erythematosus (characteristic in our case) and a positive Nikolsky's sign. With the presence of fragile and fleeting blisters, it does not affect the mucosa, it is a disease of low incidence and represents 0.5 to 3.2 cases per 100,000 inhabitants per year. In ages from 15 to 84 years, on average at 54 years, without predominance of race or sex. We present the case of a 31-year-old male patient, skin phototype V/VI according to Fitzpatrick, with no signifi- cant history, presenting bilateral and symmetrical generalized dermatosis beginning in the central facial region characterized by well-defined erythematous plaques with regular borders, with presence of thick oily yellow scales and bruises on the surface, which spread to other seborrheic areas of the chest, anterior and posterior, exulcerated areas, hyperpigmented macules of variable sizes, pruritic with a 1-year history. A skin biopsy was performed with findings consistent with this disease. Treatment with topical and systemic steroids and immunosuppressants was started with a good response. A case is reported because it is a rare variant of pemphigus foliaceus, so it is important to report this case in Venezuela. [ABSTRACT FROM AUTHOR]

Background: Vitiligo is an acquired pigmentary disorder of the skin characterised by patches and circumscribed depigmented macules caused by epidermal melanocyte loss. A vasculoprotective molecule, endocan is an indicator of endothelial function. Objective: We aimed to evaluate carotid intima media thickness (CIMT) and serum endocan level in vitiligo patients and to compare their levels with healthy controls. Methods: This case-control study involved sixty male vitiligo patients aged 18 years or older, in addition to twenty healthy controls of the same age. A comprehensive evaluation of each patient included general and clinical examination, the Vitiligo Extent Tensity Index (VETI) score that was used to quantify the severity of vitiligo, a laboratory analysis to determine the serum endocan level, and Doppler ultrasound imaging of the CIMT. Results: No statistically significant differences were observed between the patient and control groups with respect to the age, gender, and body mass index. Patients had a significantly higher mean CIMT than the control group. Conclusion: Serum endocan and CIMT levels were significantly higher in vitiligo patients than in the control group and were significantly correlated with the severity of the disease, according to the study. [ABSTRACT FROM AUTHOR]

Background Melasma is a commonly acquired pigmentary disorder, appearing as brown macules and patches on sun-exposed areas of the face and neck. Many treatments have been attempted to reduce melasma, however no universally impact procedure to promising results. In recent studies, tranexamic acid (TXA) oral, injection, or topical has been used for treating/reducing melasma with promising results. Tranexamic acid has main effect for skin as a whitening effect either systematically or topically preparation. We aim to to provide the latest evidence on the clinical efficacy of TXA in the treatment of melasma by pooling data from cohort studies. Methods We performed a comprehensive search on topics that assesses tranexamic acid to reduce melasma from inception up until May 2023. Results There were 21 studies out of a total of 1167 patients reported the changes of MASI/mMASI score after using oral, topical, and injection TXA at 4 weeks, 8 weeks, and 12 weeks. The pooled analysis showed the significantly of reduction in melasma area severity index/modified melasma area severity index (MASI/mMasi) scores at 4 weeks (MD: 3.58; 95% CI, 2.15-5.01;I2 = 92%), 8 weeks (MD: 5.08; 95% CI, 3.34-6.81;I2=96%) and 12 weeks (MD: 4.89; 95% CI, 3.80-5.97;I2=91%) after treatment were all less than the baseline scores, regardless of the delivery route. Conclusion The objective of this thorough examination and analysis is to present the available information regarding the application of TXA as a treatment option for individuals with melasma. Additional extensive randomized controlled trials (RCTs) are required to determine the most effective dosage and treatment plan for TXA. [ABSTRACT FROM AUTHOR]

Introduction: Although the dermoscopic features of facial lentiginous melanomas (LM), including lentigo maligna and lentigo maligna melanoma, have been extensively studied, the literature about those located on the scalp is scarce. This study aims to describe the dermoscopic features of scalp LM and assess the diagnostic accuracy of dermoscopy to discriminate them from equivocal benign pigmented macules. Methods: Consecutive cases of scalp LM and histopathology-proven benign but clinically equivocal pigmented macules (actinic keratoses, solar lentigos, seborrhoeic keratoses, and lichen planus-like keratoses) from four referral centres were included. Dermoscopic features were analysed by two blinded experts. The diagnostic performance of a predictive model was assessed. Results: 56 LM and 44 controls were included. Multiple features previously described for facial and extrafacial LM were frequently identified in both groups. Expert's sensitivity to diagnose scalp LM was 76.8% (63.6–87.0) and 78.6% (65.6–88.4), with specificity of 54.5% (38.9–69.6) and 56.8% (41.0–71.7), and fair agreement (kappa coefficient 0.248). The strongest independent predictors of malignancy were (OR, 95% CI) chaos of colour (15.43, 1.48–160.3), pigmented reticular lines (14.96, 1.68–132.9), increased density of vascular network (3.45, 1.09–10.92), and perifollicular grey circles (2.89, 0.96–8.67). The predictive model achieved 85.7% (73.8–93.6) sensitivity, 61.4% (45.5–75.6) specificity, and 81.5 (73.0–90.0) area under curve to discriminate benign and malignant lesions. A diagnostic flowchart was proposed, which should improve the diagnostic performance of dermoscopy. Conclusion: Both facial and extrafacial dermoscopic patterns can be identified in scalp LM, with considerable overlap with benign pigmented macules, leading to low specificity and interobserver agreement on dermoscopy. [ABSTRACT FROM AUTHOR]

Background: Vitiligo is a chronic, common disease of still unknown etiology characterized by circumscribed ivory or chalky white macules of different size and shape. The pathogenesis of vitiligo is complex and still not well understood. According to autocytotoxic hypothesis, oxidative stress has been suggested to be the initial pathogenic event in melanocyte degeneration. Objective: The present study was conducted with an objective to evaluate the role of oxidative stress and antioxidant status in the pathogenesis of vitiligo. Materials and Methods: A total of sixty (60) subjects (age group 14-50 years) of both sexes were enrolled in this study. Of 60, 30 were clinically diagnosed cases of vitiligo of all types and remaining 30 were normal healthy controls. The indicator of oxidative stress was determined by measuring serum level of MDA. The role of antioxidant was determined by measuring serum levels of SOD and Vitamin C. Results: The mean serum level of MDA was significantly increased in vitiligo patients compared to controls while the mean serum level of SOD was significantly decreased in patients of vitiligo than controls. Also, Vitamin C was decreased in vitiligo compared to controls but was insignificant. Conclusion: The result of the present study demonstrates imbalance between oxidant-antioxidant system and support the associations between oxidative stress and free radical-mediated damage in the pathogenesis of vitiligo. [ABSTRACT FROM AUTHOR]

Vitiligo is an autoimmune disorder which presents as depigmented macules due to selective loss of melanocytes. Heightened expression of Janus Kinase Signal transducers and activators of transcription (JAK STAT) pathway, which mediate cytokines action, suggest that targeting this signaling pathway may be an effective option. A PubMed search was carried out with the broad key words 'JAK,' 'vitiligo' from 2016 to 2023. We also analyzed papers where tissue-based JAK expression was studied, with or without concomitant treatment with JAK inhibitors. We address the role of JAK inhibitors in vitiligo and their effect on repigmentation of lesions. While JAK inhibitors help in cessation of disease progression, they have no in vivo action on melanocyte proliferation and hence cannot result in re-pigmentation as a monotherapy. There is a need for tissue-based JAK and cytokine-based studies with post-treatment expression data to validate the role of this class of drugs in vitiligo. There is as yet no data to suggest that selective JAK inhibitors are superior to pan JAK inhibitors for vitiligo. JAK inhibitors are useful in active disease and effectively modulate the cytokine mediated autoimmune dammage and makes them singularly superior to oral glucocorticosteroids. [ABSTRACT FROM AUTHOR]

The plant Carpobrotus edulis has traditionally been known for its wide applications in diseases, especially vitiligo, which is characterized by patches and white macules caused by the loss of melanocytes. One of the chemical treatments for vitiligo consists mainly of skin repigmentation and usually leads to a non-durable effect by inhibiting the Janus kinase (JAK) signal transduction (STAT pathway). JAK inhibitors generally block multiple JAK tyrosine kinases, which leads to secondary effects. In this study, natural molecules from Carpobrotus edulis were extracted and tested using a structure-based drug-design approach and pharmacophore modeling. The best-fit candidate from the extracted molecules was compared to the chemical molecules used. The results indicated a similarity between the chemical and natural ligands which suggested the potential use of the natural product against vitiligo. The main finding of this research work was the discovery of a new molecule extracted from a natural plant and the detection of its anti-vitiligo activity using an in-silico approach. This method can significantly reduce the cost of searching for potential medicinal molecules. [ABSTRACT FROM AUTHOR]

Objectives. To reveal the role of long pentraxin 3 (PTX3) and nuclear factor kappa beta (NF-kB) in vitiligo and their relationship with disease severity. Materials and Methods. The study groups consisted of a total of 54 patients, including 27 patients diagnosed with vitiligo and 27 healthy controls without any cutaneous disease. Patients with amelanotic, sharply demarcated, and chalk-white macular lesions were defined as vitiligo. The diagnosis of vitiligo was confirmed by Wood's lamp examination. No biopsies were taken from the lesions, and no additional laboratory testing was performed. Skin and hair pigmentations in lesions other than hands and feet were evaluated. Vitiligo grading was done using the largest macules overall. Spreading rates were evaluated in selected lesions with Wood's lamp. The long pentraxin 3 and NF-kB levels in serum samples of participants were measured by the ELISA method. Results. According to the Vitiligo European Task Force consensus 16 of 27, vitiligo patients were in the slow progressive phase, and 11 patients were in the active progressive phase. The serum PTX3 levels of the patients in the vitiligo group were found to be significantly higher than those of the control group (8.21 ± 2.11 ng/ml vs. 6.76 ± 1.90 ng/ml, p < 0.03). Similarly, the serum NF-kB levels of the patients in the vitiligo group were significantly higher than those of the patients in the control group (15.03 ± 3.45 ng/ml vs. 12.19 ± 4.20 ng/ml, p < 0.01). A positive and significant correlation was found between serum NF-kB and PTX3 (r = 0.677 and p < 0.01). PTX3 and NF-kB levels were significantly higher in patients in the active progressive phase than in patients in the slow progressive phase. PTX3 and NF-kB values in the active progressive phase tended to be higher than those detected when the disease was in the slow progressive phase. Conclusions. High serum PTX3 and NF-kB levels in vitiligo are evidence of impaired proinflammatory activity and innate and adaptive immunity. [ABSTRACT FROM AUTHOR]

Key Clinical Message: TNPM is a benign, transient, neonatal pustulosis requiring no active treatment. Diagnosis is clinical, characterized by a vesiculopustular eruption, healing with residual hyperpigmented macules. Before diagnosing TNPM, serious conditions including skin infections should be excluded. This case was unusual in that vesiculobullae predominated, with a notable absence of simple pustules. [ABSTRACT FROM AUTHOR]

Nevus of Ota is a dermal melanocytic hamartoma clinically characterized by confluence of blue-to-gray macules, distributed along the ophthalmic and the maxillary divisions of the trigeminal nerve. It is usually unilateral and only 5–15% of cases have been reported to have bilateral involvement. This entity has been reported predominantly in darkly pigmented individuals, particularly in Asians and blacks. Case reports and case series describing this unique entity are very rare in literature. Herein, we report three cases of bilateral nevus of Ota at a tertiary care center in Eastern India. A detailed history, clinical examination, Wood’s lamp examination, and histopathological correlation were done in all the cases. In all the cases, lesions started with bluish pigmentation on the sclera and out of three cases, two had palatal involvement as well. [ABSTRACT FROM AUTHOR]

Minocycline induced hyperpigmentation is an aesthetically unsetting adverse drug event. Oral minocycline inducing hyperpigmentation is common course, keeping in line with this topical minocycline 4% was formulated. A moderately built woman diagnosed with acne was prescribed with topical minocycline 4% Gel and after 15 days of application she noticed dark patches on applied areas which progressed into macules. On examination, it was found that the topical minocycline has induced Type I (Bluish Black) Hyperpigmentation. To the best of clinician's knowledge, the drug was withdrawn and observed over a period of month. Post-withdrawal for 30-days the skin started to regain its original tone. Regardless of the fact that the topical formulation has been designed to reduce the drug contact with the systemic circulation and to decrease the side-effects, will the formulation succeed in providing the effective and safe therapy in acne patients? [ABSTRACT FROM AUTHOR]

The article discusses a case of generalized hyperpigmented and hypopigmented macules and papules in a 49-year-old woman. The patient had these skin lesions since her twenties and mentioned that her family members also had similar lesions. The physical examination revealed oval hyperpigmented macules and papules, some with a hyperkeratotic surface, along with hypopigmented macules. Histopathological examination showed characteristic features of Dowling-Degos disease (DDD), a rare genodermatosis. The article provides information on the clinical presentation, histological findings, genetic analysis, and differential diagnosis of DDD. Treatment options for DDD are also discussed. [Extracted from the article]

This article is a case report about a 51-year-old Caucasian man who developed a skin condition called dark perifollicular macules and granulomatous rosacea after taking vandetanib for metastatic medullary thyroid carcinoma. The patient had a papular, erythematous eruption on the scalp and face, as well as blue-gray perifollicular macules on his face. A biopsy confirmed the diagnosis of granulomatous rosacea. The patient was advised to protect his skin from the sun and was prescribed doxycycline, which helped reduce the facial eruption. The article highlights the importance of patient education and photoprotection to prevent or minimize these skin manifestations. [Extracted from the article]

Background: With a frequency of 0.5–2% in the general population, vitiligo is a chronic acquired depigmentary condition that manifests as single or clusters of achromic macules and patches on various body parts. Objective: This study aimed to evaluate the efficacy of topical psoralen-narrow band ultraviolet B (NB-UVB) treatment of non-segmental vitiligo patients in comparison with NB-UVB alone. Patients and Methods: This prospective interventional study included forty non-segmental vitiligo (NSV) patients, divided into two equal groups. Group I received only NB-UVB sessions while group II treated with topical psoralen plus NB-UVB. Vitiligo extent tensity index (VETI) was used for disease severity evaluation. All patients received three sessions weekly for sixteen weeks. The participants were recruited from the Dermatology Outpatient Clinic of Vitiligo, Ain- Shams University Hospitals. Results: Group I and II were statistically matching as regards age, sex, special habits, vitiligo family history, disease activity or duration and associated diseases. VETI scores showed highly statistically significant post-treatment improvement in both groups. However, no statistically significant difference could be detected in those receiving NBUVB alone versus psoralen plus NBUVB. Conclusion: The combination of topical psoralen and narrow band UVB is a successful treatment option for nonsegmental vitiligo that is well tolerated. Its effectiveness is comparable to narrow band UVB alone, but not better. [ABSTRACT FROM AUTHOR]

Reticulate pigmentary dyschromatoses primarily include dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH) (Reticulate acropigmentation of Dohi), and unilateral dermatomal pigmentary dermatosis, which differ in their patterns of distribution. The disease was initially described by Ichikawa and Hiraga in Germany in 1933. The prevalence of DUH is 0.3 per 100,000 with a female preponderance. The skin lesions usually appear in infancy or early childhood and cease to progress beyond adolescence. The subtypes DUH 1 and DUH 3 are found to have autosomal dominant inheritance, which is the most common inheritance pattern, while DUH 2 has an autosomal recessive pattern. The most common gene involved in DUH is ABCB6, while the other genes include SASH 1, PER 3, and KITLG (DUH type 2). DUH is characterized by multiple irregular hyperpigmented macules interspersed with hypopigmented macules in a mottled pattern over the trunk and extremities. The face is involved in 50% of individuals. Rarely, it can also involve hairs, nails, mucous membranes, palms, and soles. Other varied presentations include localized forms, localization of lesions to sun‐exposed areas, large macules, uniform palmar hypopigmentation, diffuse hyperpigmentation with spotty depigmented macules, and unilateral involvement. DUH has been reported to be associated with various cutaneous and systemic diseases. The authors have observed cases of DUH associated with hepatocellular carcinoma, solitary keratoacanthoma, and dermoid cyst. The various diagnostic modalities include dermoscopy, histopathology, electron microscopy, and targeted gene sequencing. Though various treatment modalities like NBUVB and lasers have been tried, no treatment is promising. [ABSTRACT FROM AUTHOR]

Objective The objective of this study is to dermoscopically evaluate the effectiveness of 308 nm Excimer laser in the repigmentation of IGH macules. Methods A total of 44 patients were recruited for the study. In each patient five IGH macules were treated with 308 nm Excimer laser twice weekly for 3 months. The degree of pigmentation improvement was assessed as follows: =25% - minimal response, 26%-50% - moderate response, 51%-75% - good response, and >75% - excellent response. Results 40 patients successfully completed the study in total. 200 IGH macules were treated with the Excimer laser, of which 41.5% macules showed excellent improvement, 31% macules showed a good response, 21% macules showed moderate response and 6.5% macules showed minimal response. In 9% of IGH macules, side effect like post-inflammatory hyperpigmentation was noticed. Conclusion 308nm excimer laser is a simple, safe, outpatient procedure for effective induction of pigmentation in IGH macules with minimum adverse effects and good patient satisfaction score. [ABSTRACT FROM AUTHOR]

Lichen Planus Pigmentosus (LPP) is an uncommon variant of lichen planus characterized by the development of dark greyish-brown macules and patches primarily affecting sun-exposed areas. Histologically, it presents with lichenoid interface dermatitis with many melanophages. In select cases, the presence of melanocytic nests or pseudomelanocytic nests within LPP lesions has been documented, posing a diagnostic challenge. We present a detailed case report of a 32-year-old Eritrean woman with a longstanding history of hyperpigmented macules, alongside an in-depth review of the existing literature on lichenoid dermatoses featuring melanocytic or pseudomelanocytic nests. This paper delves into the clinical presentation, histopathological features, differential diagnosis, and potential mechanisms underlying this intriguing phenomenon. [ABSTRACT FROM AUTHOR]

Background/Objectives: Cutis marmorata telangiectatica congenita (CMTC) is a capillary malformation characterized by congenital, reticulated, well‐demarcated dark blue, red‐purple, or violaceous macules or plaques, with a coarse fixed livedo pattern. Nearly always, contiguous areas of skin atrophy and/or ulceration are present. CMTC is usually localized but may rarely be generalized. Such generalized cases may be a feature of Adams‐Oliver syndrome (AOS). The nosologic confusion surrounding the term CMTC and uncertainty about the risk of associated abnormalities hinders the appropriate workup of patients and prognostic counseling for families. We hypothesized that the risk of associated anomalies in children with localized CMTC is very low. Methods: We performed a literature review and retrospective review of patients with CMTC to propose a more precise clinical definition and ascertain the risk of associated anomalies. Results: We included 78 patients determined to have a diagnosis of CMTC based on consensus. The majority of patients had localized CMTC. Most patients with generalized CMTC met the criteria for the diagnosis of AOS. The associations found in patients with localized CMTC were mostly dermatological, with atrophy, ulcerations, or erosions present in 71%. Extracutaneous findings were present in 34.4% of patients and consisted mainly of extremity asymmetry (24.5%) that improved over time. Conclusion: Our study showed a very low frequency of extracutaneous anomalies among patients with localized CTMC, ipsilateral limb discrepancy being the most common. We did not find a strong association with any other visceral anomalies that would justify routine evaluation in patients with localized CMTC. [ABSTRACT FROM AUTHOR]

Background/aim: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder. Clinical diagnosis is difficult in early childhood, and it is possible to miss a critical interval for tumour screening. In this study, we aimed to characterize the mutational spectrum of Turkish patients and discuss the benefits of molecular testing. Material and methods: Fifty individuals from 35 unrelated families were included. Main referral reasons for genetic testing were as follows: to confirm a clinical diagnosis, to use in differential diagnosis and to evaluate first‐degree family member of a known patient. Two‐step process consisting of initial next generation sequencing of the NF1 gene and consequent multiplex ligation‐dependent probe amplification were performed. Results: We identified a total of 30 variants in 28 individuals. Variant detection rate was 56% in the entire study group and 71.4% within the index patients. Four novel variants were found. Truncating variants constituted 60% of the entire mutation spectrum. A deletion or duplication was not detected. The most common feature was cafe au lait macules in 70% of the patients, followed by focal areas of signal intensity on brain imaging (26%), cutaneous neurofibromas (24%) and axillary freckling (24%). Conclusions: Early sequencing in all suspected patients followed by deletion/duplication analysis in patients meeting clinical criteria and a case‐to‐case based consideration for RNA studies seems to be the effective algorithm for NF‐1 diagnosis. In this study, we characterized the mutational spectrum of Turkish neurofibromatosis type‐1 patients and discussed phenotypic consequences. Fifty individuals from 35 unrelated families were sequenced for NF1 variants, and subsequent MLPA were performed; 30 NF1 variants were identified, four of which were novel. Our findings highlight and extend the clinical diversity among NF‐1 patients from Turkey. [ABSTRACT FROM AUTHOR]

The diagnosis of syphilis can be challenging for dermatologists and dermatopathologists. In particular, secondary syphilis can have different clinical and histopathological presentations. A granulomatous tissue response is an unusual finding in secondary syphilis. We report the case of a 77-year-old man who presented with a 4-week history of non-pruritic generalised macules, papules, nodules and plaques. Histopathologically, there was a dense perivascular and periadnexal lympho-histiocytic dermal infiltrate with non-palisading and non-caseifying epithelioid granulomas and abundant plasma cells. The diagnosis of syphilis was confirmed by serology and immunohistochemical detection of Treponema pallidum in the biopsy specimen. A brief overview of the diagnostic role of immunohistochemistry is also provided, with particular emphasis on reported cases of granulomatous secondary syphilis. [ABSTRACT FROM AUTHOR]

This article discusses the use of a diagnostic tool called the Tzanck smear in diagnosing a specific type of dermatitis called Paederus dermatitis. The case report describes a 35-year-old man from Brazil who developed pruritic vesicular lesions on his knee after being exposed to an insect. The Tzanck smear, which involves collecting a sample from the lesion and examining it under a microscope, revealed cellular findings consistent with spongiotic dermatitis. The article also provides information about Paederus dermatitis, including its prevalence in tropical and subtropical regions and its characteristic symptoms. Treatment options for Paederus dermatitis are also mentioned. [Extracted from the article]

Porokeratosis is a rare, acquired or inherited disorder of keratinization characterized by one or more atrophic macules or patches, each surrounded by a characteristic ridge-like hyperkeratotic border. Linear porokeratosis (LP) is a variant of porokeratosis in which the lesions are distributed in a linear way. The skin lesions of linear porokeratosis typically present in infancy or early childhood. However, sometimes they occur in adults. The current work talks about a 13-year-old girl suffering from linear porokeratosis since the age of 2 months. [ABSTRACT FROM AUTHOR]

Cydnidae pigmentation is caused by the arthropod Chilocoris assmuthi which is also known as the burrowing bug. The lesion is characterised as asymptomatic brownish red macules which develops on contact with the bug. The sudden onset of such asymptomatic lesions can cause panic to the patient and can also simulate other melanocytic lesions. Hence knowledge about the condition is important to reassure the patient about the harmless nature of the condition and relive their anxiety. We also report a case of nail pigmentation due to Cydnidae in our case series. [ABSTRACT FROM AUTHOR]