White horses - non-coding sequences drive premature hair greying and predisposition to melanoma.

The Grey allele in horses is causing premature hair greying and susceptibility to melanoma. The causal mutation is a 4.6 kb tandem duplication in intron 6 of the Syntaxin 17 gene. A recent study demonstrated that the most common allele at the Grey locus (G3) involves three tandem copies of this sequence, whilst a more rare allele (G2) has two tandem copies and the wild-type allele (G1) only one copy. The G3 allele is causing fast greying and high incidence of skin melanoma, whereas the G2 allele is causing slow greying and no obvious increase in melanoma incidence. Further somatic copy number expansion has been documented in melanoma tissue from Grey horses. Functional studies showed that this intronic sequence acts as a weak melanocyte-specific enhancer that becomes substantially stronger by the copy number expansion. The Grey mutation is associated with upregulated expression of both Syntaxin 17 and the neighbouring NR4A3 gene in Grey horse melanomas. It is still an open question which of these genes is most important for the phenotypic effects or if causality is due to the combined effect of upregulation of both genes. Interestingly, RNAseq data in the Human Protein Atlas give support for a possible role of NR4A3 because it is particularly upregulated in human skin cancer, and it belongs to a cluster of genes associated with skin cancer and melanin biosynthesis. The Grey mutation and its association with melanoma provide a possibility to study the path to tumour development in numerous Grey horses carrying exactly the same predisposing mutation.

Evolución de la técnica follicular unit extraction (FUE) / Evolution of the follicular unit extraction (FUE) technique

El microtrasplante capilar, método FUE, es la cirugía para la recuperación capilar que consta en la extracción de unidades foliculares con punches de distintos diámetros y longitudes, desde una zona llamada dadora, generalmente occipital y/o temporal aunque pueden utilizarse otras partes del cuerpo como barba, tórax, abdomen y pubis, para luego de seleccionarse y conservarse en forma adecuada ser implantadas en la llamada zona receptora. Tanto los avances en la técnica como en el uso de instrumental de última generación generan resultados mejores y más naturales, con una recuperación más rápida y menor daño de sus zonas dadoras.

Hair transplant, FUE method, is surgery for hair recovery that consists of the extraction of follicular units with punches of different diameters and lengths, from an area called the donor; usually occipital and/or temporal; although they can be used on other parts of the body such as beard, thorax, abdomen and pubes. After being appropriately selected and preserved, they are implanted in the so-called receiving area. Both advances in technique and in the use of cutting-edge instruments generate better and more natural results, with faster recovery and less damage to the donor areas

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.

Biallelic pathogenic variants in RMRP, the gene encoding the RNA component of RNase mitochondrial RNA processing enzyme complex, have been reported in individuals with cartilage hair hypoplasia (CHH). CHH is prevalent in Finnish and Amish populations due to a founder pathogenic variant, n.71A > G. Based on the manifestations in the Finnish and Amish individuals, the hallmarks of CHH are prenatal-onset growth failure, metaphyseal dysplasia, hair hypoplasia, immunodeficiency, and other extraskeletal manifestations. Herein, we report six Japanese individuals with CHH from four families. All probands presented with moderate short stature with mild metaphyseal dysplasia or brachydactyly. One of them had hair hypoplasia and the other immunodeficiency. By contrast, the affected siblings of two families showed only mild short stature. We also reviewed all previously reported 13 Japanese individuals. No n.71A > G allele was detected. The proportions of Japanese versus Finnish individuals were 0% versus 70% for birth length < -2.0 SD, 84% versus 100% for metaphyseal dysplasia and 26% versus 88% for hair hypoplasia. Milder manifestations in the Japanese individuals may be related to the difference of genotypes. The mildest form of CHH phenotypes is mild short stature without overt skeletal alteration or extraskeletal manifestation and can be termed "RMRP-related short stature".

Knotted lanugo in a newborn: Cultural practices revealed.

Across the world, there are varied cultural practices applied in the newborn period that pediatric dermatologists need to be familiar with. This report details a 9-day-old girl who presented with black, spike-like hairs across the back after her mother had been rubbing breast milk on her back in a circular motion for the first 7 days of life. On dermatoscopic exam, these lesions were found to be tight bundles of lanugo hairs, consistent with a diagnosis of knotted lanugo. Improved understanding of cultural practices and newborn skin care routines is critical for diagnosis, treatment, and counseling.

Arteriovenous malformation with hair collar sign.

We report the case of a newborn who was noted at birth to have an occipital scalp nodule presenting with a hair collar sign (HCS). The nodule had enlarged since birth. An MRI revealed a soft tissue mass on the occipital scalp without deep extension or cranial bone involvement. A biopsy of the nodule led to a diagnosis of arteriovenous malformation (AVM). A vascular malformation with HCS has not been reported before in North America. This case highlights the complexity of diagnosing a lesion with a hair collar sign.

Dermoscopic findings and comparison of usefulness of longitudinal versus transversal sections in the histological diagnosis of alopecia X.

BACKGROUND: A combination of dermoscopic and histological findings may provide useful information for the diagnosis of hair follicle diseases. However, there are no studies on dermoscopic-histopathological correlations in dogs affected by alopecia X, and comparison of longitudinal versus transversal sectioning of skin biopsy specimens in the assessment of this hair loss disorder has not been thoroughly investigated. HYPOTHESIS/OBJECTIVES: The aim of this study was to correlate dermoscopic and histological features using both longitudinal and transversal sectioning of skin biopsy samples to gain additional information for the diagnosis of alopecia X. ANIMALS: Nineteen Pomeranian dogs affected by alopecia X and five healthy Pomeranians as controls. MATERIALS AND METHODS: Dermoscopic-histological correlation was performed within the diseased group, whereas histological comparisons against controls. The demographic and clinical characteristics also were related to the histological findings. RESULTS: The dermoscopic findings revealed scattered, thinned, short hairs mixed with amorphous keratoseborrhoeic-like material (follicular plugging), perifollicular and intrafollicular scaling, and hyperpigmentation varying from pinpoint black spots to a diffuse texture. Dermoscopic findings correlated with histological findings for selected qualitative and quantitative findings. The usefulness of transversal sections was demonstrated in accurately determining the hair follicular density and counts, growth arrest phases and in identifying mineralisation of hair follicle basement membrane when compared to the longitudinal. Conversely, no correlations between histological findings and demographic and clinical characteristics were detected. CONCLUSIONS AND CLINICAL RELEVANCE: These data provide evidence of the usefulness of dermoscopic evaluation as an accessory diagnostic tool and of transversal sections of skin biopsies as complementary to the diagnosis of alopecia X.

Oral Trichogranuloma in an Asian 12-Year-Old Female With Trichotillomania.

Pilonidal sinus is an acquired chronic inflammatory condition associated with the penetration of hair fragments into the skin. In the pathogenesis of most of these cases, a traumatic event initiates the process allowing the introduction of the hairs into the skin. We report an unusual case of acquired pilonidal sinus as a consequence of the unconscious habit of chewing on the hairs in a 12-year-old girl. Although most commonly located in the gluteal cleft, it has been reported in several areas of the body (including face), but to the best of our knowledge, this is the first report in the oral cavity. Our case presented as a palatal and vestibular fistula in a patient who suffered from an undiagnosed peculiar form of hair pulling disorder that involved hair chewing but not trichophagia.

Refractory alopecia areata with single hairs imitating frontal fibrosing alopecia: a prospective observational study.

BACKGROUND: Lonely hair sign is considered as a clue to the diagnosis of frontal fibrosing alopecia (FFA). OBJECTIVE: To report an undescribed variant of alopecia areata (AA) with which the patient developed single hairs and other features similar to FFA and to determine the underlying mechanism. METHODS: We conducted a prospective observational study in patients who presented with receding hairline and single hairs, evaluating the clinical, trichoscopic, and histological features and their correlation. Immunochemistry studies were performed to describe the microenvironment. RESULTS: Eighteen patients were enrolled in the study. Despite the similarity to FFA clinically, these patients showed different histopathology which revealed a normal number of pilosebaceous units, one anagen hair in one or more pilosebaceous units, and others in telogen stage, consistent with single hairs under the naked eye or under trichoscopy. The severity of the hair loss assessed by SALT was no more than 50, but the response to conventional therapy was poor. CONCLUSIONS: This study reports a unique variant of AA. The pathological basis is an increase in the telogen hair follicles, with one anagen hair in one or more pilosebaceous units. Minimal inflammation consisting of CD3+ T lymphocytes and mast cells was demonstrated in the microenvironment.

Pressure alopecias: A review.

Pressure-induced alopecias (PAs) are an infrequent group of scarring and nonscarring alopecias that occur after ischemic obstruction of capillaries that leads to circumscribed areas of hair loss. Initially described after prolonged surgeries or immobilization, type 1 PA occurs after sustained external pressure to the skin, mainly the scalp prominences. Alopecia induced by cosmetic procedures, referred in this review as type 2 PA, is reported with increased frequency in literature and predominantly emerges from pressure exerted by the volume of injectables. It is important to differentiate type 2 PA from vascular occlusion-induced alopecia because they represent distinct entities. Clinically, PA may present with erythema, swelling, and tenderness; however, alopecia might be the sole manifestation. Crusts and ulceration are associated with a worse outcome and a higher risk of scarring alopecia. Prompt diagnosis is paramount to prevent complications. Trichoscopy, although considered nonspecific, may provide relevant clues for an accurate diagnosis. Hair regrows in most cases, but prognosis depends on ischemia severity and timely treatment with reperfusion therapies or mobilization. Treatment of hair loss is usually not necessary because the disease in most cases is self-limited and reversible. The role of topical minoxidil and corticosteroids remains unknown.

Demonstration of direct immunofluorescence on three substrates in a case of pemphigus.

Direct immunofluorescence (DIF) on skin is considered as the gold standard in the diagnosis of pemphigus. However, alternate substrates can be used. We demonstrate DIF on three substrates, skin biopsy specimen, anagen hair and scrapings of oral erosions. Collection of alternative substrates can be more acceptable to young patients as it is less invasive. It may also be used to detect relapses in cases of pemphigus.

[Alopecia and COVID-19: possible etiopathogenetic variants and therapeutic approach]. / Alopetsiya i COVID-19: vozmozhnye etiopatogeneticheskie varianty i printsipy lecheniya.

Sudden hair thinning, phantom trichalgia in the early and late rehabilitation period after novel coronavirus infection (COVID-19) are the most common complaints of patients, that can be considered by both dermatocosmetologist and medical rehabilitation specialist. A telogen hair loss was found in 19.8% of patients, whereby 27.3% of patients suffering from hair loss during disease and 72.7% - at 3rd-6th month after recovery. Most commonly, hair loss is non-structural and associated with an abnormal ovulatory cycle shift and diffuse asynchronous loss of hair follicles in telogen phase, as well as with an increase of total predisposed to loss hair follicles number. Nevertheless, the analysis of clinical observations of patients with post-COVID hair loss has shown that this disorder is registered not only in telogen phase. There is a rapid disease progression up to the final stages in the presence of verified androgenetic alopecia diagnosis. The cases of alopecia areata and cicatricial alopecia, associated with previous COVID-19, also were registered. Androgenetic alopecia is the first (30.7%) and diffuse alopecia is the second (19.8%) by degree of incidence. The relapses or much less frequently the onsets of alopecia areata and the unexplained pronounced pain at the hair roots in parietal region (7.8%) are in the third place. The article presents in detail the possible reasons and mechanisms of hair loss associated with COVID-19, determines necessary examinations with consideration to the scientific analysis of domestic and foreign literature sources.

Linear alopecia in pediatrics: RCM and dermoscopy reveal diagnostic cues.

BACKGROUND: Alopecia areata (AA), trichotillomania (TM), nevus sebaceous (NS), and linear scleroderma en coup de sabre (LSCS) can all present with a patch of linear alopecia, making diagnosis challenging. The purpose of this study was to combine reflectance confocal microscopy (RCM) and dermoscopy in the diagnosis of these lesions in children. METHODS: A total of 36 patients with linear alopecia were enrolled, of whom 14 had AA, seven had TM, nine had NS, and six had LSCS. We evaluated the characteristics and distinguishing features of the four conditions using RCM and dermoscopy. RESULTS: The key to differential diagnosis was the dermal Hair follicle density in the dermis was decreased in AA, and the size and density of the follicular openings were normal in TM. In NS, the major features were petal-like and frogspawn-like structures. In LSCS, dermal papillary rings, sebaceous glands, and follicles were partially or completely missing, and abundant fibrous material was distributed in the dermis. Dermoscopy revealed alopecia, and all four conditions resulted in decreased hair density. AA patients exhibited yellow dots, black dots, and exclamation mark hairs. TM patients presented with irregularly broken hairs and blood spots. Both NS and LSCS patients exhibited an absence of follicular openings; NS patients demonstrated whitish and yellowish round structures, while an atrophic area with white patches, linear vessels, and no yellow or black dots was observed in LSCS patients CONCLUSION: RCM combined with dermoscopy can provide additional information on disease states and differentiate between AA, TM, NS, and LSCS.

A missense mutation in Lama3 causes androgen alopecia.

Hair loss disorders such as androgenetic alopecia have caused serious disturbances to normal human life. Animal models play an important role in exploring pathogenesis of disease and evaluating new therapies. NIH hairless mice are a spontaneous hairless mouse discovered and bred in our laboratory. In this study, we resequenced the genomes of NIH normal mice and NIH hairless mice and obtained 3,575,560 high-quality, plausible SNP loci and 995,475 InDels. The Euclidean distance algorithm was used to assess the association of SNP loci with the hairless phenotype, at a threshold of 0.62. Two regions of chromosome 18 having the highest association with the phenotype contained 345 genes with a total length of 13.98 Mb. The same algorithm was used to assess the association of InDels with the hairless phenotype at a threshold of 0.54 and revealed a region of 25.45 Mb in length, containing 518 genes. The mutation candidate gene Lama3 (NM_010680.2: c.652C>T; NP_034810.1: p. Arg217Cys) was selected based on the results of functional gene analysis and mutation prediction screening. Lama3 (R217C) mutant mice were further constructed using CRISPR/Cas9 technology, and the relationship between Lama3 point mutations and the hairless phenotype were clarified by phenotypic observation. The results showed that male Lama3 point mutation mice started to lose hair on the 80th day after birth, and the hair loss area gradually expanded over time. H&E staining of skin sections showed that the point mutation mice had increased sebaceous glands in the dermis and missing hair follicle structure (i.e., typical symptoms of androgenetic alopecia). This study is a good extension of the current body of knowledge about the function of Lama3, and the constructed Lama3 (R217C) mutant mice may be a good animal model for studying androgenetic alopecia.

Application of Autologous Hair Transplantation Technique in Children with Cicatricial Alopecia.

INTRODUCTION: Cicatricial alopecia not only affects the appearance of children's heads and faces but also their mental health in the long term. This study aims to explore the therapeutic characteristics and clinical effects of autologous hair transplantation technology in children with cicatricial alopecia. METHODS: Children in our department who received autologous hair transplantation technology for cicatricial baldness of the scalp from February 2019 to October 2022 were collected. Their basic information was analyzed, and postoperative follow-up was conducted, including calculation of hair follicle survival rate, hair growth, complications, and an efficacy satisfaction survey given to the children's family members. RESULTS: Thirteen children were included in this study (10 males and 3 females), aged from 4 years 1 month to 12 years 10 months, with an average age of 7 years 5 months. Two hundred to 2500 hair follicular units were extracted, with an average recipient area of 22.7 cm2, an average hair follicle unit density of 55.3 ± 9.1 per cm2, and an average hair/follicular unit (hair/FU) ratio of 1.75 ± 0.07. Thirteen children in this group were followed up for 6-12 months with the following treatment options: FUE (follicular unit extraction, 9 cases), FUT (follicular unit transplantation, 3 cases), and FUT combined with FUE (1 case). The average hair survival rate was 85.3%. Except for one child with temporary folliculitis, there were no complications. The GAIS score is divided into five levels: complete improvement (2 cases), obvious improvement (10 cases), partial improvement (1 case), no improvement (0 cases), and deterioration (0 cases). The patient satisfaction results included very satisfied (2 cases), mostly satisfied (10 cases), and dissatisfied (1 case). CONCLUSION: Autologous hair transplantation technology is a safe and effective method for children with cicatricial alopecia.

Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid.

Noninflammatory alopecia is common in dogs and is a frequent cause to consult a veterinarian. It is also a common reason to take biopsies. Noninflammatory alopecia can be attributed to a decreased formation or cytodifferentiation of the hair follicle or the hair shaft in utero, resulting in congenital alopecia. Congenital alopecia often has a hereditary cause, and examples of such disorders are ectodermal dysplasias associated with gene variants of the ectodysplasin A gene. Noninflammatory alopecia may also be caused by impaired postnatal regeneration of hair follicles or shafts. Such disorders may have a clear breed predilection, and alopecia starts early in life. A hereditary background is suspected in those cases but has not been proven. They are referred to as follicular dysplasia although some of these disorders present histologically like a hair cycle disturbance. Late-onset alopecia is usually acquired and may be associated with endocrinopathies. Other possible causes are impaired vascular perfusion or stress. As the hair follicle has limited possible responses to altered regulation, and histopathology may change during the course of a disease, a detailed clinical history, thorough clinical examination including blood work, appropriate biopsy site selection, and detailed histological findings need to be combined to achieve a final diagnosis. This review aims to provide an overview about the known noninflammatory alopecic disorders in dogs. As the pathogenesis of most disorders is unknown, some statements are based on comparative aspects or reflect the authors' opinion.

Kerion Celsi due to Microsporum canis in an Adult Woman, Treated Successfully with Fosravuconazole.

A 64-year-old woman presented with a fist-sized, severely painful lesion with scales, crusts, pustules, erythema with subcutaneous abscess, and hair loss on the left temporal region. Direct microscopic examination revealed a large number of spores around the hair, which indicated ectothrix hair invasion, and some hyphae were also found. Histopathological examination showed significant inflammatory cell infiltration from the dermis to the subcutaneous tissues and into the hair follicles, destruction of the hair follicles with granulomatous reactions, and fungal masses along the hair within the hair follicles. Microsporum canis was identified based on morphological features via culture method and molecular biological analysis of the internal transcribed spacer region DNA sequence. The patient was diagnosed with kerion celsi caused by M. canis. For treatment of kerion celsi, we chose an oral antifungal agent, fosravuconazole (FRVCZ), which has been available since 2018 only in Japan. Clinical symptoms were cured in 12 weeks without scarring. No side effects were observed during oral administration of FRVCZ. The results of our case and several previous reports suggest that FRVCZ is effective in treating various types of dermatomycoses.

SharpRazor: Automatic removal of hair and ruler marks from dermoscopy images.

BACKGROUND: The removal of hair and ruler marks is critical in handcrafted image analysis of dermoscopic skin lesions. No other dermoscopic artifacts cause more problems in segmentation and structure detection. PURPOSE: The aim of the work is to detect both white and black hair, artifacts and finally inpaint correctly the image. METHOD: We introduce a new algorithm: SharpRazor, to detect hair and ruler marks and remove them from the image. Our multiple-filter approach detects hairs of varying widths within varying backgrounds, while avoiding detection of vessels and bubbles. The proposed algorithm utilizes grayscale plane modification, hair enhancement, segmentation using tri-directional gradients, and multiple filters for hair of varying widths. We develop an alternate entropy-based processing adaptive thresholding method. White or light-colored hair, and ruler marks are detected separately and added to the final hair mask. A classifier removes noise objects. Finally, a new technique of inpainting is presented, and this is utilized to remove the detected object from the lesion image. RESULTS: The proposed algorithm is tested on two datasets, and compares with seven existing methods measuring accuracy, precision, recall, dice, and Jaccard scores. SharpRazor is shown to outperform existing methods. CONCLUSION: The Shaprazor techniques show the promise to reach the purpose of removing and inpaint both dark and white hair in a wide variety of lesions.

Comparative histopathological analyses of non-scarring alopecia in systemic lupus erythematosus patients in Lagos Nigeria.

Background: Systemic lupus erythematosus (SLE) is known to cause non-scarring alopecia. However, histopathological evaluation is uncommon. Aim: The objective of this study was to document the histopathology of non-scarring alopecia and to compare histopathology of alopecic and normal appearing scalp areas in SLE hair loss patients. Patients and Methods: A cross-sectional comparative evaluation of scalp biopsies from 23 SLE patients; 12 with hair loss and 11 without was conducted over a 7-month period in 2020. A total of 58 scalp biopsies stained with H and E (23 vertical and 35 cross-sectional) were evaluated. Mucin deposit evaluation was done using Alcian blue (pH 2.5). Results: There were no significant differences in the sociodemographic data between the patients. The SLE hair loss patients demonstrated mucin deposition (91.7%), reduced size/number of sebaceous glands (58.3%), epidermal atrophy (50.0%), naked arrector pili muscles (50.0%), lymphocytic infiltration (33.3%), pigment incontinence (16.7%), fibrous stellae (16.7%), increased telogen percentage, and increased terminal versus vellus hair ratios. On comparing the histopathology of those who had hair loss to those without hair loss, the only significant difference was in the number and size of sebaceous gland. There were no significant differences between scalp areas with and without hair loss in the SLE hair loss patients. Conclusion: There are differences in size and number of sebaceous glands on histopathology between SLE patients who have hair loss and those who do not. Also, there are no histopathological differences between alopecic and non-alopecic scalp areas of SLE patient.