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The capture of a rare, critically endangered adult angular rough shark, Oxynotus centrina (Linnaeus, 1758), with abnormal coloration is reported in this paper. The shark exhibited a partial reduction in pigmentation, resulting in an overall pale appearance with white‐greyish patches. Since the retinal pigmentation appeared normal, the shark was considered leucistic. This represents the first documented case of leucism in this species and the first colour disorder reported in the family Oxynotidae Gill, 1912. Despite the atypical appearance, the physical health of the shark seemed unaffected, supporting the notion that pigment disorders in deep‐sea sharks do not inherently impair survival and growth. Full morphometric characteristics are presented and compared with those of a normal individual of the same sex caught in the same area, showing no differences. [ABSTRACT FROM AUTHOR]

Simple Summary: Cutaneous T-cell lymphomas (CTCLs) represent a heterogeneous group of rare extranodal non-Hodgkin lymphomas with variable clinical presentation. In the Middle East and North Africa (MENA region), where darker skin colors are more common than in the West, CTCL generally presents at a younger age and with distinct clinical features that necessitate special expertise and management across disciplines: rare forms of CTCL are more common (hypo- and hyperpigmented mycosis fungoides (MF)) and a higher prevalence of pediatric MF is noticed. The high cancer burden in the Middle East and North Africa (MENA region) is coupled with an increasing cancer incidence. While the MENA region constitutes 6% of the world's population, it remains underrepresented in clinical trials. Cutaneous T-cell lymphomas (CTCLs) represent a heterogeneous group of rare extranodal non-Hodgkin lymphomas with variable clinical presentation. In the MENA region, where darker skin colors are more common than in the West, CTCL generally presents at a younger age and with distinct clinical features that necessitate special expertise and management across disciplines: rare forms of CTCL are more common (hypo- and hyperpigmented MF) and a higher prevalence of pediatric MF is noticed. The multidisciplinary approach to cancer management is growing worldwide and is necessary for the comprehensive management of CTCL. The MENA CTCL group was established with the aim of creating a collaborative environment for the diagnosis and treatment of CTCL in the region. Its first meeting was held in May 2023. The group plans to increase the global representation of the MENA region and establish CTCL registries and patient advocacy groups in the region. [ABSTRACT FROM AUTHOR]

Background: Tinea versicolor is a common cutaneous fungal infection of the skin caused by a part of the resident flora of skin known as Malassezia species. This infection is recognized by pigmentation disturbance in the form of lesions and superficial scaling in the skin. Materials and Methods: This study was conducted on 350 students between the ages of 18-25 years who lived in a school dormitory and were suspected of clinical diagnosis of Tinea versicolor. The Scotch tape method was used to take samples from the infected skin of students, and methylene blue staining was used to prepare smears. Results: After mycological examinations, among the 350 suspected students, 30 cases tested positive for Tinea versicolor, including 17 males and 13 females. 43.3% (n: 13) of patients had hypopigmentation followed by hyperpigmentation (33.3%, n:10) and erythematous (23.3%, n:7). Conclusion: This study demonstrated a significant prevalence of Tinea versicolor among the students located in the dormitories, with a higher rate among male students. Different infection periods and lesions were observed in the cases, but no severe lesion was seen. [ABSTRACT FROM AUTHOR]

Purtscher-like retinopathy (PLR) is a rare entity related with retinal ischemia due to endothelial dysfunction and embolization. We present a case of a 17-year-old patient who presented with PLR associated with transplant-associated thrombotic microangiopathy. Visual acuity was finger counting at 1 meter in both eyes. Fundoscopy demonstrated peripapillary cotton-wool spots and hypopigmentation in the middle peripheral retina. Both eyes showed signs of macular edema with intraretinal hemorrhages. Optical coherence tomography and fundus fluorescence angiography was performed to support the diagnosis. After systemic treatments and panretinal photocoagulation, the patient's vision improved and the macular edema resolved. [Ophthalmic Surg Lasers Imaging Retina 2024;55:603–606.] [ABSTRACT FROM AUTHOR]

Simple Summary: The scarcity of specific clinical and dermoscopic criteria makes solitary pink skin lesions the most challenging to diagnose. Cherry angioma, clear cell acanthoma, dermal nevus, keloid, hypertrophic scar, and Spitz nevus are the most common benign lesions that share similar clinical and dermoscopic features. Furthermore, some malignant lesions, such as basal cell carcinoma, actinic keratosis, or amelanotic melanoma, can be indistinguishable from the above-mentioned benign pinkish lesions. Several studies have demonstrated the excellent diagnostic accuracy of reflectance confocal microscopy in increasing sensitivity and specificity compared to dermoscopy alone for the diagnosis of skin cancer. This study aimed to summarize the application of dermoscopy and RCM for the differential diagnosis of benign and malignant pinkish–reddish skin lesions, although, in suspicious lesions, the final diagnosis should always be confirmed after surgical excision and histopathological evaluation. Diagnosing solitary pink skin lesions poses a significant challenge due to the scarcity of specific clinical and dermoscopic criteria. Several benign lesions, such as cherry angioma, clear cell acanthoma, dermal nevus, keloid, hypertrophic scar, and Spitz nevus, often exhibit similar clinical and dermoscopic features. This similarity extends to some malignant lesions, including basal cell carcinoma, actinic keratosis, and amelanotic melanoma, making differentiation difficult. Recent studies highlight the enhanced diagnostic accuracy of reflectance confocal microscopy (RCM), which offers increased sensitivity and specificity compared to dermoscopy alone for diagnosing skin cancer. This study aims to summarize the application of dermoscopy and RCM in distinguishing between benign and malignant pinkish–reddish skin lesions. The integration of RCM with traditional dermoscopic techniques improves the ability to accurately identify and differentiate these lesions. However, it is crucial to note that for any suspicious lesions, a final diagnosis must be confirmed through surgical excision and histopathological evaluation. This comprehensive approach ensures accurate diagnosis and appropriate treatment, highlighting the importance of combining advanced imaging techniques in clinical practice. [ABSTRACT FROM AUTHOR]

Dermoscopy is a noninvasive, efficient and inexpensive tool used to aid diagnosis of skin conditions such as vitiligo. Furthermore, it aids in tracking patient progress, treatment response and disease activity. Vitiligo can be diagnosed on dermoscopy by the presence of white structureless areas signifying hypopigmentation with a typical glowing appearance. Other typical features are perilesional and perifollicular hyperpigmentation, pigmentation networks and leucotrichia. In total, 15 studies were reviewed to determine the dermoscopic signs of the three main stages of disease activity: active, stable and repigmenting vitiligo. Features that differentiate active, stable and repigmenting vitiligo are reviewed and discussed in this article. Notably, there is a conflict in the literature between various dermoscopic features and which type of vitiligo they are truly indicative of. However, dermoscopy can be coupled with other clinical, biological and physiological markers to strengthen diagnostic accuracy. [ABSTRACT FROM AUTHOR]

In mammals, hair and skin colour play crucial roles in concealing individuals from predators, facilitating communication within and between species, and contributing to essential physiological functions like thermoregulation. However, certain individuals exhibit abnormal colouration patterns due to either an excess (melanism) or deficiency (albinism, leucism, or piebaldism) in melanin production. Despite the prevalence of chromatic disorders in mammals, instances of species displaying colour anomalies remain infrequent. Here, we report the occurrence of colour anomalies in eight small mammal species (Microtus hartingi, M. dogramacii, M. schidlovskii, M. levis, Mus macedonicus, Sorex sp., Apodemus sp., Nannospalax sp.). In some specimens with colour abnormalities (M. hartingi, M. schidlovskii and M. dogramacii), species identification was confirmed by molecular analysis (cyt b gene region). An individual of M. dogramacii exhibiting colour anomaly was compared with the M. dogramacii species displaying normal colouration through multivariate morphometric analysis and was found to be in the normal range for the species. [ABSTRACT FROM AUTHOR]

Introduction: Vitiligo is a skin depigmenting disorder influenced by both genetic and environmental factors. In contrast, chemical leukoderma (CL) is an acquired form of depigmentation caused by repeated exposure to specific chemical compounds. There is growing evidence of a similar pathogenesis in both entities; however in some cases, it remains unclear. Case Presentation: We present a case of a 26-year-old female who developed widespread depigmentation after using “lightning creams” containing Monobenzyl Ether Hydroquinone purchased online. The lesions displayed various tones of skin color, including discrete macules and confluent patches with defined borders. Her history of chemical exposure and subsequent depigmentation strongly supports the diagnosis of CL. Conclusion: We aim to share this interesting case of widespread CL, review of pathogenesis and highlight the importance of awareness about commercially distributed products, particularly those sold online.

Vitiligo is a chronic skin condition caused by an autoimmune response that results in the progressive loss of melanocytes and recent studies have suggested that Janus kinase inhibitors (JAKi) are emerging as a promising new treatment modality. Therefore, to assess and understand the extent of knowledge in the emerging field of JAKi use in vitiligo, a scoping review of the literature was undertaken. The reviewed articles explored a wide variety of JAKi administered either orally or topically for vitiligo. There were no injectable JAKi studied. Tofacitinib was the most commonly studied oral JAKi in 16 of the 35 studies selected for review, followed by baricitinib (n = 3), and one study each with ritlecitinib, ruxolitinib, and upadacitinib. Ruxolitinib (n = 6) and tofacitinib (n = 6) were the most often studied topical JAKi, followed by delgocitinib (n = 1). Potential benefits may vary between JAKi based on their receptor selectivity profile and coexistent autoimmune diseases. A topical JAKi would be advantageous in limited body area involvement and in adolescents. Concurrent use of JAKi with phototherapy or sun exposure appears beneficial. Most studies permitted the use of other topical agents. Acne‐related events, though frequent yet mild, were reported with both oral and topical JAKi. Nasopharyngitis, upper respiratory tract infections, and headaches were the most common adverse effects seen in the larger trials with JAKi. No serious or clinically meaningful hematology or thromboembolic events were detected. Treatment of vitiligo with oral or topical JAKi seems to be promising and the growing evidence shows a favorable risk‐benefit profile. [ABSTRACT FROM AUTHOR]

Pigmentary mosaicism is a term that describes various patterns of segmental pigmentation disorders based on genetic heterogenicity of skin cells. Pigmentary mosaicism is a collective term, which comprises phenotypes represented by mosaic hypo- and/or hyperpigmentation in the form of whorls, patchy, streaks or more bizarre skin configurations. Melanocyte precursors are neural crest derived and migrate through the Dorso-lateral pathway during embryogenesis. This group of disorders may be associated with or without systemic abnormalities. In a considerable number of cases, pigmentary mosaicism is observed alongside extracutaneous oddities generally affecting the musculoskeletal system and central nervous system. Pigmentary mosaicism includes a variety of inherited, patterned pigmentary dermatoses which have been described using various terms such as hypo melanosis of Ito, linear and whorled nevoid hypermelanosis, phylloid hypo- and hypermelanoses and pigmentary mosaicism of both hypopigmented and hyperpigmented type. Here, we present a series of 5 cases of pigmentary mosaicism in a single report. [ABSTRACT FROM AUTHOR]

Color aberrations in birds corresponds with important ecological functions, including thermoregulation and physiological impacts, camouflage and increased predation, and social interactions with conspecifics. Color aberrations in birds have been reported frequently in the scientific literature, but aberrations in many species remain undocumented or understudied. We investigated records of leucism in malachite kingfishers (Corythornis cristatus) from observations of community scientists on iNaturalist and eBird in Uganda. Leucistic kingfishers were only observed within the Queen Elizabeth National Park (QENP), Uganda. When considering all observations of malachite kingfishers that included photographs within the QENP, leucistic individuals accounted for 13.0% and 10.4% of total malachite kingfisher observations within the study area from iNaturalist and eBird, respectively. Leucistic observations were recorded from September 2015 through February 2017, making up 60.0% and 68.2% of observations of malachite kingfishers within the study area from iNaturalist and eBird during that time, respectively. The localized and short documentation period suggests observations represent a single individual, while the high observation rate likely corresponds with collection bias due to the novelty of the individual. Our findings help to better understand the ecological importance and potential consequences for color‐aberrant individuals, although color aberration did not appear to inhibit our subject's ability to find a mate. Our work also highlights how participatory science can promote the documentation of color‐aberrant individuals in wild populations, although it poses challenges when trying to estimate abundance. [ABSTRACT FROM AUTHOR]

Leprosy (Morbus Hansen) is a chronic, severe infectious disease caused by the Mycobacterium leprae that mostly affects the skin, mucosa, eyes, and nerves. Despite the availability of effective treatment, leprosy has become a major public health problem in many developing countries. [ABSTRACT FROM AUTHOR]

Hypopigmentation disorders pose significant diagnostic challenges in dermatology, sometimes reflecting underlying hematological conditions. This review explores the clinical presentations related to hypopigmentation in hematological disorders, focusing on vitiligo, morphea, and syndromic albinism. Vitiligo, an autoimmune disorder targeting melanocytes, involves interactions between genetic polymorphisms and immune responses, particularly regarding CD8+ T cells and IFN-γ. Drug-induced vitiligo, notably by immune checkpoint inhibitors and small-molecule targeted anticancer therapies, underscores the importance of immune dysregulation. Morphea, an inflammatory skin disorder, may signal hematological involvement, as seen in deep morphea and post-radiotherapy lesions. Syndromic albinism, linked to various genetic mutations affecting melanin production, often presents with hematologic abnormalities. Treatment approaches focus on targeting the immune pathways specific to the condition, and when that is not possible, managing symptoms. Understanding these dermatological manifestations is crucial for the timely diagnosis and management of hematological disorders. [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]

Effective therapies to treat skin hypopigmentation disorders caused by diminished melanin synthesis or export are limited due to potential side effects. In this work, we explored if cyclocurcumin (CYC), a curcuminoid found in minor amounts in turmeric rhizomes, might enhance the process of melanogenesis. CYC did not demonstrate antioxidant activity as evaluated by the DPPH assay. At noncytotoxic concentrations, CYC robustly enhanced melanin synthesis and melanin export in B16F10 mouse melanoma cells, which was correlated to increased cellular tyrosinase activity. The melanogenesis-stimulating efficacy of CYC was enhanced in B16F10 cocultures with HaCaT cells. Next, our results in MNT-1 human melanoma cells confirmed that CYC is a stimulator of both melanin synthesis and melanin export and acts by upregulating microphthalmia transcription factor (MITF) protein, although CYC did not alter tyrosinase protein or tyrosinase activity in MNT-1 cells. Moreover, the examination of CYC in MNT-1:HaCaT cocultures continued to show a more potent effect on stimulating melanin synthesis, as well as its export to recipient keratinocytes. Finally, CYC was shown to demonstrate a potent capacity to stimulate melanin production in primary human melanocytes from a Caucasian donor (HEMn-LP cells), although the effects on cellular tyrosinase activity were biphasic. Taken together, this is the first study to report the novel finding that CYC is a potent promelanogenic candidate that exhibits potential utility in the therapeutic management of skin disorders arising due to hypopigmentation in humans. Future studies that examine the molecular mechanisms and elucidate the promelanogenic efficacy of CYC in vivo are necessary. [ABSTRACT FROM AUTHOR]

Giant inclusions in leukocytes is a common feature that can be observed in some infections but can be also related to rare genetic disorders such as Chédiak-Higashi syndrome (CHS). A differential diagnosis between these groups of diseases has to be performed using specific genetic tests. Clinical and pathological history is relevant for a diagnostic orientation due to the difficulty and specificity of the diagnostic confirmation. We present the case of a 3-years-old male patient with recurrent respiratory infections. It is important to highlight the presence of a lock of white hair on the front of the head and some hypopigmentation of the skin. In the blood smear, the presence of big cytoplasm granules in all the leukocytes, especially in neutrophils. CHS is an uncommon genetic disorder caused by the mutation in the LYST gene situated in chromosome 1q42.3 which codified for LYST protein. Molecular genetic testing also can be done to detect the biallelic variants in the LYST gene. It is essential to perform peripheral blood smears in the presence of changes in quantitative and/or qualitative values in the complete blood count as a first step in the diagnosis algorithm. [ABSTRACT FROM AUTHOR]

Albinism is a heterogenous disease with variable phenotypic and genotypic presentations. Diagnosis can be challenging and clinical evaluation strategies vary. This review examines the phenotypic and genotypic characteristics of albinism and discusses evaluation strategies used to assess its variable clinical presentations. Additionally, it explores the challenges faced by clinicians in diagnosing albinism and issues related to genetic testing, interpretation and subsequent counseling of affected patients and their families. It is important to note that although current management of albinism is mainly supportive and focuses on optimizing vision, there are emerging therapies with promising translational benefit. Ongoing research in the field of albinism is benefiting from recent advances, particularly in retinal imaging and phenotyping. Similarly, access to advanced technologies like next-generation and long-read sequencing has improved diagnostic accuracy for previous cases with missing heritability. Deeper genotyping and phenotyping as well as multicentre collaborative approaches have allowed better understanding of genotype-phenotype correlations. There is still a need for more research on the psychosocial aspects of albinism. Encouraging involvement of patients and the public in determining research priorities in this area is essential for a better understanding of the psychosocial impact on individuals with albinism. [ABSTRACT FROM AUTHOR]

Epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders characterized by the formation of blisters either spontaneously or at the sites of trauma. These heal with post-inflammatory hypopigmentation, scarring, or milia formation. We hereby present a child who presented with widespread hypopigmented atrophic areas, blistering at trauma-prone sites, and nail dystrophy. The significance of this particular case lies in the challenge of distinguishing between epidermolysis bullosa and bullous extragenital lichen sclerosus et atrophicus.

Tyrosinase is a copper‐containing enzyme involved in the biosynthesis of melanin pigment. While the excess production of melanin causes hyperpigmentation of human skin, hypopigmentation results in medical conditions like vitiligo. Tyrosinase inhibitors could be used as efficient skin whitening agents and tyrosinase agonists could be used for enhanced melanin synthesis and skin protection from UV exposure. Among a wide range of tyrosinase‐regulating compounds, natural and synthetic derivatives of furochromenones, such as 8‐methoxypsoralen (8‐MOP), are known to both activate and inhibit tyrosinase. We recently reported a synthetic approach to generate a variety of dihydrofuro[3,2‐c]chromenones and furo[3,2‐c]chromenones in a metal‐free condition. In the present study, we investigated these compounds for their potential as antagonists or agonists of tyrosinase. Using fungal tyrosinase‐based in vitro biochemical assay, we obtained one compound (3k) which could inhibit tyrosinase activity, and the other compound (4f) that stimulated tyrosinase activity. The kinetic studies revealed that compound 3k caused 'mixed' type tyrosinase inhibition and 4f stimulated the catalytic efficiency. Studying the mechanisms of these compounds may provide a basis for the development of new effective tyrosinase inhibitors or activators. [ABSTRACT FROM AUTHOR]

Neuromelanin hypopigmentation within substantia nigra pars compacta (SNc) reflects the loss of pigmented neurons, which in turn contributes to the dysfunction of the nigrostriatal and striato-cortical pathways in Parkinson's disease (PD). Our study aims to investigate the relationships between SN degeneration manifested by neuromelanin reduction, functional connectivity (FC) among large-scale brain networks, and motor impairment in PD. This study included 68 idiopathic PD patients and 32 age-, sex- and education level-matched healthy controls who underwent neuromelanin-sensitive magnetic resonance imaging (MRI), functional MRI, and motor assessments. SN integrity was measured using the subregional contrast-to-noise ratio calculated from neuromelanin-sensitive MRI. Resting-state FC maps were obtained based on the independent component analysis. Subsequently, we performed partial correlation and mediation analyses in SN degeneration, network disruption, and motor impairment for PD patients. We found significantly decreased neuromelanin within SN and widely altered inter-network FCs, mainly involved in the basal ganglia (BG), sensorimotor and frontoparietal networks in PD. In addition, decreased neuromelanin content was negatively correlated with the dorsal sensorimotor network (dSMN)-medial visual network connection (P = 0.012) and dSMN-BG connection (P = 0.004). Importantly, the effect of SN neuromelanin hypopigmentation on motor symptom severity in PD is partially mediated by the increased connectivity strength between BG and dSMN (indirect effect = − 1.358, 95% CI: − 2.997, − 0.147). Our results advanced our understanding of the interactions between neuromelanin hypopigmentation in SN and altered FCs of functional networks in PD and suggested the potential of multimodal metrics for early diagnosis and monitoring the response to therapies. [ABSTRACT FROM AUTHOR]

Pemphigus is a rare autoimmune bullous disease, with pemphigus vulgaris (PV) and pemphigus foliaceous (PF) being its most common forms. This report presents a case of PF triggered by vaccinations. A previously healthy 38-year-old Caucasian man developed skin lesions six months after receiving vaccinations for hepatitis A, rabies, cholera, typhoid fever, and yellow fever before travelling to Sudan. Exami- nation revealed pruritic erosions, crusts, and flaccid blisters primarily on the trunk and limbs. Histopathology was nonspecific, but direct immunofluorescence showed intercellular IgG, C3c, and C1q deposits. Elevated autoantibodies against desmoglein 1 (DSG1) confirmed the PF diagnosis. The patient responded well to oral prednisone and topical treatments, with complete resolution of symptoms within six months. The aetiology of pemphigus remains unclear, but vaccines can nonspecifically activate the immune system, potentially triggering pemphigus in predisposed individuals. This case highlights the need to consider pemphigus as a potential adverse effect of vaccination. [ABSTRACT FROM AUTHOR]

The treatment of postburn hypopigmentation was primarily surgical before the advent of new technologies. Medical devices and therapies are emerging to manage scar sequelae that can be disfiguring and associated with severe psychosocial impact. These innovations have been poorly investigated for hypopigmentation, but they represent a real hope. We reviewed all articles published on Pubmed up to June 2022. Included studies had to specifically focus on treating postburn hypopigmented scars. All articles evaluating transient solutions such as make-up, and articles describing inflammation-linked hypopigmentation with no etiological details or no burn injury history were excluded. Through this review, we have highlighted 6 different types of nonsurgical treatments reported in postburn leukoderma potentially allowing definitive results. Electrophoto-biomodulation or E light (combining intensive pulsed light, radiofrequency, and cooling), topical daylight psoralen UVA therapy, and lasers (fractional lasers using pulse energies or CO2FL devices, lasers-assisted drug delivery as local bimatoprost and tretinoin or pimecrolimus) have been explored with encouraging results in hypopigmented burns. Finally, other promising medical strategies include using FK506, a nonsteroidal anti-inflammatory drug, to induce melanogenesis or using melanocyte-stimulating hormones with fractional laser-assisted drug deliveries, which are expected to emerge soon. [ABSTRACT FROM AUTHOR]

Background: Non-melanoma skin cancers (NMSCs) are responsible for up to one-third of all human malignancies. Surgery is usually the treatment of choice, but patients often experience pain during the procedure. Topical rhenium-188 resin skin cancer treatment (RSCT) may be a valid therapeutic alternative. Methods: In this monocentric pilot study, 19 patients suffering from NMSC were treated with RSCT. Most of these patients had also experienced surgery, either because they developed a new NMSC in aftercare, or they had suffered previously from NMSC. Three RSCT-treated patients, who had no exposure to surgery so far, were paired with three matched patients, who had received surgery. We sought to evaluate and compare the patients' experience with both treatments. A questionnaire assessed patients' perceptions regarding side effects, aesthetic outcomes, wound care, fear of complications, and personal treatment preferences. Patients evaluated the different parameters of their either RSCT- or surgery-treated lesions on a scale from 0–10. Results: Patients were more afraid of complications before surgery than before RSCT (p = 0.04). Treatment with RSCT caused significantly less pain on treatment day (mean 0.56) than surgery (mean 2.32) (0 no pain, 10 maximum pain) (p = 0.02) and 14 days after the procedure (mean 0.89 versus mean 2.47) (p = 0.02). On day 14, RSCT-treated lesions were also significantly less itchy (mean 0.34) than after surgery (mean 1.50). Most patients were very satisfied with the aesthetic outcome after both RSCT (mean 8.42) and surgery (mean 8.31) (p = 0.89). In the case of a new NMSC, the majority of patients who experienced both treatments would rather be treated primarily with RSCT (44%) or would consider both options (31%); only 19% preferred surgery. Conclusion: Patients evaluated RSCT as less painful than surgery. The aesthetic outcomes of both treatments were comparable. For pain-sensitive patients, RSCT might be a preferable treatment option. [ABSTRACT FROM AUTHOR]

Tessier No. 7 cleft is the most common atypical craniofacial cleft with an incidence of 1:3000-5642 births. This clinical report describes the successful management of a delayed, unusually hypopigmented postoperative facial scar following the surgical closure of a Tessier 7 cleft using the Pfeiffer wave line incision. In the absence of any other associated systemic lesions, the scar was treated as a localized leucoderma. The scar coloration improved dramatically with the chosen line of conservative medical treatment, and a surgical revision was not required. This report highlights the need for continuous follow up despite seemingly good short-term results. The medical management of the hypopigmented scar will aid fellow practitioners who may face similar dilemmas. [ABSTRACT FROM AUTHOR]

Melanins are biopolymeric pigments formed by a multi-step oxidation process of tyrosine in highly specialized cells called melanocytes. Melanin pigments are mainly found in the skin, iris, hair follicles, and inner ear. The photoprotective properties of melanin biopolymers have been linked to their perinuclear localization to protect DNA, but their ability to scavenge metal ions and antioxidant properties has also been noted. Interactions between drugs and melanins are of clinical relevance. The formation of drug–melanin complexes can affect both the efficacy of pharmacotherapy and the occurrence of adverse effects such as phototoxic reactions and discoloration. Because the amount and type of melanin synthesized in the body is subject to multifactorial regulation—determined by both internal factors such as genetic predisposition, inflammation, and hormonal balance and external factors such as contact with allergens or exposure to UV radiation—different effects on the melanogenesis process can be observed. These factors can directly influence skin pigmentation disorders, resulting in hypopigmentation or hyperpigmentation of a genetic or acquired nature. In this review, we will present information on melanocyte biology, melanogenesis, and the multifactorial influence of melanin on pharmacological parameters during pharmacotherapy. In addition, the types of skin color disorders, with special emphasis on the process of their development, symptoms, and methods of treatment, are presented in this article. [ABSTRACT FROM AUTHOR]

Objective: While studies suggested that locus coeruleus (LC) neurodegeneration contributes to sleep–wake dysregulation in Alzheimer's disease (AD), the association between LC integrity and circadian rest‐activity patterns remains unknown. Here, we investigated the relationships between 24‐hour rest‐activity rhythms, cognitive trajectories, and autopsy‐derived LC integrity in older adults with and without cortical AD neuropathology. Methods: This retrospective study leveraged multi‐modal data from participants of the longitudinal clinical‐pathological Rush Memory and Aging Project. Indices of 24‐hour rest‐activity rhythm fragmentation (intradaily variability) and stability (interdaily stability) were extracted from annual actigraphic recordings, and cognitive trajectories were computed from annual cognitive evaluations. At autopsy, LC neurodegeneration was determined by the presence of hypopigmentation, and cortical AD neuropathology was assessed. Contributions of comorbid pathologies (Lewy bodies, cerebrovascular pathology) were evaluated. Results: Among the 388 cases included in the study sample (age at death = 92.1 ± 5.9 years; 273 women), 98 (25.3%) displayed LC hypopigmentation, and 251 (64.7%) exhibited cortical AD neuropathology. Logistic regression models showed that higher rest‐activity rhythm fragmentation, measured up to ~7.1 years before death, was associated with increased risk to display LC neurodegeneration at autopsy (odds ratio [OR] = 1.46, 95% confidence interval [CI95%]: 1.16–1.84, pBONF = 0.004), particularly in individuals with cortical AD neuropathology (OR = 1.56, CI95%: 1.15–2.15, pBONF = 0.03) and independently of comorbid pathologies. In addition, longitudinal increases in rest‐activity rhythm fragmentation partially mediated the association between LC neurodegeneration and cognitive decline (estimate = ‐0.011, CI95%: ‐0.023–‐0.002, pBONF = 0.03). Interpretation: These findings highlight the LC as a neurobiological correlate of sleep–wake dysregulation in AD, and further underscore the clinical relevance of monitoring rest‐activity patterns for improved detection of at‐risk individuals. ANN NEUROL 2024;95:653–664 [ABSTRACT FROM AUTHOR]

Background: Syphilis is an infection caused by the bacteria Treponema pallidum. It is mainly transmitted through oral, vaginal and anal sex, in pregnancy and through blood transfusion. Syphilis develops in primary, secondary, latent and tertiary stages and presents with different clinical features at each stage. Infected patients can remain asymptomatic for several years and, without treatment, can, in extreme cases, manifest as damage in several organs and tissues, including the brain, nervous tissue, eyes, ear and soft tissues. In countries with a high human immunodeficiency virus (HIV) burden, syphilis increases the risk of HIV infections. We report the case of a young HIV-positive black woman who presented with alopecia and hypopigmentation as features of secondary syphilis. Case presentation: A virologically suppressed 29-year-old woman on Anti-retroviral Therapy (ART) presented with a short history of generalized hair loss associated with a non-itchy maculopapular rash and skin depigmentation on the feet. Limited laboratory testing confirmed a diagnosis of secondary syphilis. She was treated with Benzathine Penicillin 2.4MU. After receiving three doses of the recommended treatment, the presenting features cleared, and the patient recovered fully. Conclusion: This case demonstrates the importance of a high index of clinical suspicion and testing for syphilis in patients presenting with atypical clinical features of secondary syphilis, such as hair loss and hypopigmentation. It also highlights the challenges in diagnosing and clinically managing syphilis in a resource-limited setting. [ABSTRACT FROM AUTHOR]

The morphology of facial scars shows a wide variation in terms of texture and colour. To date, there are no reliable predictors of aberrant scarring. We conducted a retrospective analysis to identify factors associated with specific scar features and types. Photographs and medical records of 428 patients with facial scars were retrospectively reviewed. Patients with keloids were excluded. The mean age of the patients was 45.43 ± 23.13 years with a male‐to‐female ratio of 1:1.36. Atrophic scars were the most common (42.8%), followed by flat scars (38.7%) and hypertrophic scars (18.5%). Scars on the forehead were more likely to be atrophic, whereas scars on the chin/jaw and around the mouth were more likely to be hypertrophic. Hypopigmentation was significantly more common in scars located on the forehead. Redness (erythema) was significantly more common in scars located on the chin/jaw. Old scars were less likely to be erythematous, and hypertrophic. Atrophic scars were more common in younger patients. Scars caused by dermatologic conditions, such as acne, were more likely to be atrophic, whereas surgical scars had the lowest risk of being atrophic or hypertrophic. In conclusion, the location, onset, and cause of facial scars were associated with specific features of scars. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Vitiligo is a common systemic, idiopathic autoimmune disease. The aim of this study was to analyze the frequency of variants of the superoxide dismutase 1 (SOD1) gene (50 bp Ins/Del, rs4817415, rs2070424, rs1041740, rs17880135) and circulating plasma protein levels through in-silico analysis. PATIENTS AND METHODS: Blood samples were collected from adult patients of both sexes with a clinical diagnosis of vitiligo. ELISA tests for SOD and analysis of gene variants by qPCR were compared to a disease-free reference group. RESULTS: The population analyzed was young people between 29 and 37 years old, with a higher percentage of women. The population was found in the Hardy-Weinberg equilibrium (HWE). The 50 bp Ins/Del, rs4817415, and rs2070424 variants showed no significant difference between groups (p > 0.05). Although, in the dominant model, the CT and CTTT genotypes of the rs1041740 and rs17880135 variants showed an association with susceptibility to vitiligo compared to the control. Plasma SOD levels showed significant differences between the groups, and when stratified according to the genotypes of each variant, there was a significant difference, except with the rs17880135 variant. The haplotypes InsCGTC and InsAGCC are shown to be risk factors for susceptibility to vitiligo. The in-silico analysis demonstrated that the rs4817415, rs2070424, rs1041740, and rs17880135 variants of the SOD1 gene participate in the modification of selected regulatory elements for differentiating the protein, transcription factors, and long non-coding RNA. CONCLUSIONS: Information regarding the pathogenesis of vitiligo helps recognize risk factors and identify the relationship of diagnostic markers of cell damage inherent to the disease. This will help improve aspects of prevention and the choice of treatment alternatives appropriate to each case. [ABSTRACT FROM AUTHOR]

Background and Design: Cryotherapy is an easy-to-apply and effective method in the treatment of warts. Numerous studies have been conducted on the effectiveness of cryotherapy in treating warts. However, in the literature, there is no comparative study on the treatment success, side effects, and superiority of vertical or tangential application to each other in spray cryotherapy. This study aims to compare both methods and to determine the ideal method for increasing patient compliance and treatment success in cryotherapy. Materials and Methods: Between December 2014 and March 2016, 25 volunteer patients with 173 warts on both hands were applied spray cryotherapy with the vertical method in one hand and tangential method in the other. The patients were evaluated in terms of both treatment success and side effects at three-week intervals. Results: The two methods did not differ in therapeutic efficacy (p>0.05). There was no difference between the two methods in terms of bullae (p=0.515) and hypopigmentation (p=0.709) formation. When the pain scores of two spray methods warts were compared according to warts diameters, the tangential application's pain score was lower in warts smaller than 2.5 mm (p=0.031). There was no significant difference in warts of other diameters (between 2.6-5.0 mm and greater than 5.0 mm) (p>0.05). Warts requiring three sessions of treatment (20/173) were compared in each session for pain scores. Regardless of the method, a significant decrease in pain score was found in each consecutive session (p<0.05). Conclusion: This is the first study to compare spray cryotherapy's vertical or tangential application to the lesion. Based on the data of this study, tangential spray application is more comfortable than vertical application. Cryotherapy may be a more widely used method if tangential spray freezing becomes common. [ABSTRACT FROM AUTHOR]

Introduction: Medical conditions can cause the skin to become hypopigmented or depigmented, mainly due to decreased production of melanin. Hypomelanosis is mainly benign and rarely malignant. Depigmentation refers to a complete lack of melanin, with the most common cause being vitiligo. Differentiating between these conditions can be difficult. Diagnosis of the condition is primarily based on the patient's detailed history, clinical signs and symptoms, accurate evaluation, and dermoscopy. Repigmentation can occur following early diagnosis and appropriate management. Aim: To highlight diagnostic findings of various cutaneous hypopigmented macular lesions and patches. Materials and Methods: PubMed and Google Scholar databases were searched using a mix of terms, including "cutaneous disorders", "dermoscopy", "skin biopsy", and "hypopigmented disorders" for this scoping review, which followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses for Scoping Review (PRISMA-ScR) guidelines. Boolean operators "AND" and "OR" were used between the keywords. The inclusion criteria consisted of articles with full text availability, articles describing various cutaneous disorders with characteristic morphology, diagnosis, types and subtypes, conditions associated with systemic diseases, histological examination findings, and prognosis of the condition, peer-reviewed papers with a comprehensive diagnosis of cutaneous hypopigmented diseases, histological biopsies. Randomised Controlled Trials (RCTs), review articles, case reports, and articles in the English language were included in this review. Results: Based on the selection criteria, a total of 12 studies were included in the review, describing various cutaneous disorders with characteristic morphology, diagnosis, types and subtypes, conditions associated with systemic diseases, histological examination findings, and prognosis of the condition. Conclusion: Knowledge regarding various outcomes from the studies related to diagnostic findings in various cutaneous hypopigmented disorders is essential for dermatologists for awareness, appropriate examination, and adequate treatment. [ABSTRACT FROM AUTHOR]

The total melanin synthesis in the skin depends on various melanogenic factors, including the number of viable melanocytes, the level of melanogenic enzymes per cell, and the reaction rate of the enzymes. The purpose of this study is to examine the effects of L-cysteine (L-Cys), L-ascorbic acid (L-AA), and their derivatives on the tyrosinase (TYR) activity and autoxidation of L-3,4-dihydroxyphenylalanine (L-DOPA) in vitro and the viability and melanin synthesis of B16/F10 cells under different conditions. L-Cysteinamide (C-NH2), glutathione (GSH), L-Cys, L-AA, and N-acetyl L-cysteine (NAC) inhibited the catalytic activity of TYR in vitro. L-AA, C-NH2, L-ascorbic acid 2-O-glucoside (AAG), and 3-O-ethyl L-ascorbic acid (EAA) inhibited the autoxidation of L-DOPA in vitro. L-DOPA exhibited cytotoxicity at 0.1 mM and higher concentrations, whereas L-tyrosine (L-Tyr) did not affect cell viability up to 3 mM. L-AA, magnesium L-ascorbyl 2-phosphate (MAP), and L-Cys attenuated the cell death induced by L-DOPA. C-NH2 decreased the intracellular melanin level at the basal state, whereas L-AA, MAP, and AAG conversely increased it. C-NH2 reduced the number of darkly pigmented cells via in situ L-DOPA staining, whereas L-AA, MAP, GSH, and AAG increased it. C-NH2 decreased the intracellular melanin level at the alpha-melanocyte-stimulating hormone (α-MSH)-stimulated state, while NAC and GSH increased it. L-AA and C-NH2 decreased the intracellular melanin level at the L-Tyr-stimulated state, but NAC and GSH increased it. L-Ascorbyl tetraisopalmitate (ATI) showed no or minor effects in most experiments. This study suggests that L-AA can either promote or inhibit the different melanogenic factors, and C-NH2 can inhibit the multiple melanogenic factors consistently. This study highlights the multifaceted properties of L-Cys, L-AA, and their derivatives that can direct their therapeutic applications in hyperpigmentation, hypopigmentation, or both disorders. [ABSTRACT FROM AUTHOR]

Abstract Color aberrations in birds corresponds with important ecological functions, including thermoregulation and physiological impacts, camouflage and increased predation, and social interactions with conspecifics. Color aberrations in birds have been reported frequently in the scientific literature, but aberrations in many species remain undocumented or understudied. We investigated records of leucism in malachite kingfishers (Corythornis cristatus) from observations of community scientists on iNaturalist and eBird in Uganda. Leucistic kingfishers were only observed within the Queen Elizabeth National Park (QENP), Uganda. When considering all observations of malachite kingfishers that included photographs within the QENP, leucistic individuals accounted for 13.0% and 10.4% of total malachite kingfisher observations within the study area from iNaturalist and eBird, respectively. Leucistic observations were recorded from September 2015 through February 2017, making up 60.0% and 68.2% of observations of malachite kingfishers within the study area from iNaturalist and eBird during that time, respectively. The localized and short documentation period suggests observations represent a single individual, while the high observation rate likely corresponds with collection bias due to the novelty of the individual. Our findings help to better understand the ecological importance and potential consequences for color‐aberrant individuals, although color aberration did not appear to inhibit our subject's ability to find a mate. Our work also highlights how participatory science can promote the documentation of color‐aberrant individuals in wild populations, although it poses challenges when trying to estimate abundance.

Lichen sclerosus (LS) is a chronic inflammatory disorder, presenting with pruritis and hypopigmentation of the vulvar and anogenital skin. LS presenting as a peri-clitoral mass has not been previously described. A 5-year-old patient with vulvar pruritis and ultrasound showing a homogenous mass was referred for suspected clitoromegaly with normal labs. Examination demonstrated a prepubertal patient with a mobile, soft, peri-clitoral mass and surrounding hypopigmentation consistent with LS. The cyst was excised surgically; pathology revealed an epidermal inclusion cyst. Postoperatively, she began using topical steroids for LS with symptom resolution. Thorough workup of clitoromegaly negative for hormonal causes requires further investigation to determine an alternative etiology of the mass. We suspect that inflammatory changes of LS and pruritus resulted in the peri-clitoral inclusion cyst. [ABSTRACT FROM AUTHOR]

This article discusses the use of intense pulsed light (IPL) therapy for treating hypertrophic scars, post-inflammatory hyperpigmentation, and post-inflammatory hypopigmentation. Hypertrophic scars are thick and raised scars that can be cosmetically and functionally problematic. The case report presents a successful treatment of a hypertrophic scar using IPL therapy, demonstrating its potential as a safe and non-invasive option. The article provides details on the treatment parameters and the patient's progress throughout the treatment course. IPL technology has been effective in treating various skin conditions and offers an alternative treatment option for patients who have concerns about using steroids. The article emphasizes the importance of further research on IPL technology and its potential benefits. [Extracted from the article]

Melasma is a common acquired skin pigmentation disorder. The treatment is urgent but challenging. Ablative fractional laser (AFL) can improve pigmentation, but the efficacy and potential side effects are still debatable. This study aimed to evaluate the efficacy and safety of ablative fractional lasers in the treatment of melasma. A comprehensive systematic search of literature published before June 20, 2023, was conducted on online databases, including PubMed, Embase, Cochrane Library, and Web of Science. The data obtained were analyzed using Review Manager 5.4 software. Fourteen randomized controlled trials, comprising 527 patients, were included. Compared to the drug alone, the combination of AFL and the drug showed improved therapeutic efficacy in the melasma area and severity index (MASI) (MD = 1.54, 95% CI [0.16, 2.92], P = 0.03) and physician global assessment (RR = 1.61, 95% CI [1.08, 2.41], P = 0.02). However, no statistically significant results were found in patient self-assessment (RR = 1.56, 95% CI [0.88, 2.76], P = 0.12). As an individual therapy, AFL is not superior to any other lasers in terms of MASI (MD = 2.66, 95% CI [-1.32, 6.64], P = 0.19) or melanin index (MD = -7.06, 95% CI [-45.09, 30.97], P = 0.72). Common adverse events included transient erythema, burning, edema, and superficial crusting. Only a few patients experienced reversible post-inflammatory hyperpigmentation, herpes labialis, and acne breakouts. These results support the application of AFL as a viable treatment option for melasma, particularly in refractory and severe cases. Rational parameterization or combination therapy may lead to significant clinical improvement with fewer complications. [ABSTRACT FROM AUTHOR]