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Hermansky-Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding diathesis due to a storage pool deficiency and immunodeficiency. The disorder is caused by disruption of the adapter protein 3 complex, which is involved in impaired intracellular vesicle transport. Here, we report the first case of a 1-year-old girl with HPS2 in Asia. She had no specific symptoms other than OCA and neutropenia. We analyzed her platelet function using transmission electron microscopy and a platelet aggregation test, cytotoxic degranulation assay of her natural killer (NK) cells and bleeding time, the results of which led to the diagnosis of HPS2. Although her NK-cell cytotoxic degranulation was impaired, she had not developed signs of hemophagocytic lymphohistiocytosis (HLH) or fibrosing lung disease. Molecular genetic analyses showed novel heterozygous mutations (c.188T>A [p.M63K] and c.2546>A [p.L849X]) in AP3B1. When examining patients with OCA, blood tests should be performed to confirm neutrophil count, bleeding time and platelet agglutination. When HPS2 is suspected, detailed immunological tests should be considered, and attention should be paid to HLH and pulmonary lesions immediately and over the long term., (© 2019 Japanese Dermatological Association.)

Woolly hair nevus consists of a patch of curly and hypopigmented hair that is restricted to an area of the scalp. It is usually benign but it can be associated with other systemic findings. Trichoscopy and dermoscopy may be useful when analyzing this entity. The authors describe a case of woolly hair nevus in a 5-year-old boy and present a review of the literature of woolly hair nevus, including classification, histopathology, associated systemic findings, and the recent described genetic mutations.

Abnormal hair loss results from a variety of factors, such as metabolic dysfunctions, immunodeficiency, and environmental stressors. Here, we report that mutant mice having defects in liver function, develop alopecia. We have shown previously that in mice lacking a Cnot3 gene, which encodes an essential component of the CCR4-NOT deadenylase complex in liver (Cnot3-LKO mice), the liver does not mature properly, resulting in various pathologies such as hepatitis, hepatic necrosis, and anemia. Unexpectedly, Cnot3-LKO mice start to lose hair around postnatal day 17 (P17). The region of hair loss expands all across their backs and symptoms persist until around P28-30. Afterward, hair re-grows, and Cnot3-LKO mice show complete hair recovery by P40. The phenotype is dependent on mouse genotype, indicating that hair follicle morphogenesis and cycling are influenced by abnormal liver development. By performing histological, quantitative PCR, and immunoblot analyses, we detected sebaceous gland (SG) hypertrophy accompanied by an increase of peroxisome proliferator-activated receptor γ (PPARγ). Collectively, these findings suggest that paracrine signaling related to liver function influences hair growth, at least in part, by altering lipid metabolism., (Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.)

Epidermal growth factor receptor (EGFR)-targeted anticancer therapy induces stigmatizing skin toxicities affecting patients' quality of life and therapy adherence. The lack of mechanistic details underlying these adverse events hampers their management. We found that EGFR/ERK signaling is required in LRIG1-positive stem cells during de novo hair eruption to secure barrier integrity and prevent the invasion of commensal microbiota and inflammatory skin disease. EGFR-deficient epidermis is permissive for microbiota outgrowth and displays an atopic-like T H 2-dominated signature. The opening of the follicular ostia during hair eruption allows invasion of commensal microbiota into the hair follicle, initiating an additional T H 1 and T H 17 response culminating in chronic folliculitis. Restoration of epidermal ERK signaling via prophylactic FGF7 treatment or transgenic SOS expression rescues the barrier defect in the absence of EGFR, highlighting a therapeutic anchor point. These data reveal that commensal skin microbiota provoke atopic-like inflammatory skin diseases by invading into the follicular opening of erupting hair., (Copyright © 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.)

Background: Dermoscopy can be helpful in assessing nonpigmented lesions and inflammatory processes like lichen planopilaris (LPP)., Material & Methods: In this observational prospective study, 81 patients with a cicatricial alopecic patch on their scalp were included and underwent dermatologic examination. A biopsy was taken from the active part of the lesion based on dermoscopy evaluation., Results: Analysis of 44 patients with definite diagnosis of LPP revealed that the mean age at the time of presentation was 44.05 ± 12.62 years. More than 77% of patients had at least one form of the follicular opening disorder. About 75% of patients had shaft disorders. The most common pattern of pigmentation was milky-red (97.73%). The irregular and ectatic vascular network were seen in 59.09% of patients. Patients with coiled and twisted hairs, small yellow dots, large yellow dots, and peripilar sign were more likely to have shorter disease duration (P < 0.05). Those with overall shaft disorders were younger (P = 0.02). Small yellow dots (P = 0.025) and peripilar sign (P = 0.039) were more common in female patients., Conclusion: Dermoscopy can be a helpful diagnostic tool in differentiating LPP among patients with primary cicatricial alopecia (PCA). Larger cohort studies are recommended to find the role of demographic factors in predicting the dermoscopic patterns among LPP patients., (© 2019 The International Society of Dermatology.)

Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by bone dysplasia and many other highly variable features. The gene responsible for CHH is the RNA component of the mitochondrial RNA-processing endoribonuclease (RMRP) gene. Currently, the pathogenesis of osteochondrodysplasia and extraskeletal manifestations in CHH patients remains incompletely understood; in addition, there are no viable animal models for CHH. We generated an rmrp KO zebrafish model to study the developmental mechanisms of CHH. We found that rmrp is required for the patterning and shaping of pharyngeal arches. Rmrp mutation inhibits the intramembranous ossification of skull bones and promotes vertebrae ossification. The abnormalities of endochondral bone ossification are variable, depending on the degree of dysregulated chondrogenesis. Moreover, rmrp mutation inhibits cell proliferation and promotes apoptosis through dysregulating the expressions of cell-cycle- and apoptosis-related genes. We also demonstrate that rmrp mutation upregulates canonical Wnt/β-catenin signaling; the pharmacological inhibition of Wnt/β-catenin could partially alleviate the chondrodysplasia and increased vertebrae mineralization in rmrp mutants. Our study, by establishing a novel zebrafish model for CHH, partially reveals the underlying mechanism of CHH, hence deepening our understanding of the role of rmrp in skeleton development., (© 2019 American Society for Bone and Mineral Research.)

Lymphoma is one of the fastest growing malignancies worldwide and imbalance in the concentrations of trace elements can play a significant role in the onset and progression of the disease. Selected essential and toxic elements (Fe, Zn, Cu, Mn, Ni, Cr, Cd and Pb) were analysed in the blood & scalp hair of lymphoma patients (n = 59 & 58, respectively) and controls (n = 61 & 60, respectively) by atomic absorption spectrometry. On the average, Ni, Cr, Cu and Cd revealed significantly higher contents in the blood and scalp hair of the patients than the controls (p < 0.05). The correlation study showed significantly diverse relationships among the elements in blood & scalp hair of the two donor groups. Variations in the elemental levels with different types of lymphoma (non-Hodgkin and Hodgkin) were also evaluated. Disparities in the elemental concentrations were also investigated for various types of non-Hodgkin (diffuse large B-cell lymphoma, follicular lymphoma and peripheral T-cell lymphoma) and Hodgkin lymphoma (mixed cellularity, nodular lymphocyte predominant and nodular sclerosing), as well as for different stages (I, II, III & IV) of the cancer. Multivariate statistical analysis showed considerably divergent associations of the elements in the patients and controls. The study indicated profound alteration of the elemental levels in the patients; it may be implicated in elemental-induced disorders including lymphoma.

Dissecting cellulitis is an inflammatory, chronic, and recurrent disease of the hair follicles that mainly affects young Afro-descendent men. Trichoscopy is a method of great diagnostic value for disorders of the scalp. Clinical and trichoscopic findings of dissecting cellulitis are heterogeneous and may present features common to non-cicatricial and scarring alopecia. This article presents the trichoscopic findings of dissecting cellulitis that help in the diagnosis and consequent institution of the appropriate therapy and better prognosis of the disease., (Copyright © 2019. Published by Elsevier España, S.L.U.)

Cartilage hair hypoplasia (CHH), anauxetic dysplasia 1, and anauxetic dysplasia 2 are rare metaphyseal dysplasias caused by biallelic pathogenic variants in RMRP and POP1, which encode the components of RNAse-MRP endoribonuclease complex (RMRP) in ribosomal biogenesis pathway. Nucleolus and neural progenitor protein (NEPRO), encoded by NEPRO (C3orf17), is known to interact with multiple protein subunits of RMRP. We ascertained a 6-year-old girl with skeletal dysplasia and some features of CHH. RMRP and POP1 did not harbor any causative variant in the proband. Parents-child trio exomes revealed a candidate biallelic variant, c.435G>C, p.(Leu145Phe) in NEPRO. Two families with four affected individuals with skeletal dysplasia and a homozygous missense variant, c.280C>T, p.(Arg94Cys) in NEPRO, were identified from literature and their published phenotype was compared in detail to the phenotype of the child we described. All the five affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. Protein modeling and stability prediction showed that the mutant protein has decreased stability. Both the reported variants are in the same domain of the protein. Our report delineates the clinical and radiological characteristics of an emerging ribosomopathy caused by biallelic variants in NEPRO., (© 2019 Wiley Periodicals, Inc.)

Tinea incognito resulting from corticosteroid abuse is becoming very common in the tropics. Its diagnosis is tricky owing to its confusing morphology, as well as practical and technical issues associated with mycological tests. Dermoscopy has now evolved as a novel diagnostic tool for diagnosing tinea incognito in such challenging situations, since the typical hair changes such as Morse-code hairs, deformable hairs, translucent hairs, comma and cork screw hairs, and perifollicular scaling may be seen despite steroid use, irrespective of mycological results., (Copyright © 2019 Sociedade Brasileira de Dermatologia. Published by Elsevier España, S.L.U. All rights reserved.)

Inexpensive near-infrared microscopy (NIRM) was developed as a convenient technique to detect the medulla loss of scalp hair while reducing analytical time with easy sample preparation, leading to a field screening tool for breast cancer. NIRM has been evaluated as an alternative to synchrotron-based nanoscopy and to the relatively expensive method of conventional infrared microscopy to determine the degree and pattern of medulla loss of scalp hairs of patients with breast cancer and benign diseases, as well as normal healthy individuals. NIR imaging showed a strong, scattering-based hyperintense contrast of the medulla compared to the fully attenuated cortex in medullated healthy hair. Complete medulla loss (CML) per hair strand was more extensively (60.9  ±  10.2 %) (p  <  0.001) detected in the hair of all cancer patients than in the hair of either healthy individuals (less than 3.7  ±  7.5%) or those with benign disease (30.6  ±  5.9  %  ), suggesting a potential biomarker for breast cancer diagnosis. The medulla structure was retained mostly in the hair of age-matched healthy individuals, but discontinuous medulla loss was observed concomitantly with less CML in fibroadenoma patients. Potentially, compact NIRM modules can be integrated into a mobile platform as point-of-care technology for breast cancer screening.

Minoxidil was first introduced as an antihypertensive medication and the discovery of its common adverse event, hypertrichosis, led to the development of a topical formulation for promoting hair growth. To date, topical minoxidil is the mainstay treatment for androgenetic alopecia and is used as an off-label treatment for other hair loss conditions. Despite its widespread application, the exact mechanism of action of minoxidil is still not fully understood. In this article, we aim to review and update current information on the pharmacology, mechanism of action, clinical efficacy, and adverse events of topical minoxidil., Competing Interests: The authors report no conflicts of interest in this work.

Incontinentia Pigmenti (IP; MIM 308300) is an X-linked dominant genodermatosis caused by pathogenic variant in IKBKG. The phenotype in adults is poorly described compared to that in children. Questionnaire survey of 99 affected women showed an age at diagnosis from newborn to 41 years, with 53 diagnosed by 6 months of age and 30 as adults. Stage I, II, and III lesions persisted in 16%, 17%, and 71%, respectively, of those who had ever had them. IP is allelic to two forms of ectodermal dysplasia. Many survey respondents reported hypohidrosis and/or heat intolerance and most had Stage IV findings. This suggests that "Stage IV" may be congenitally dysplastic skin that becomes more noticeable with maturity. Fifty-one had dentures or implants with 26 having more invasive jaw or dental surgery. Half had wiry or uncombable hair. Seventy-three reported abnormal nails with 27 having long-term problems. Cataracts and retinal detachment were the reported causes of vision loss. Four had microphthalmia. Respondents without genetic confirmation of IP volunteered information suggesting more involved phenotype or possibly misassigned diagnosis. Ascertainment bias likely accounts for the low prevalence of neurocognitive problems in the respondents., (© 2019 Wiley Periodicals, Inc.)

Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene encompassing three main clinical findings: 1) ichthyosiform dermatitis and/or ichthyosis linearis circumflexa, 2) hair shaft defects with peculiar "trichorrhexis invaginata" (bamboo pole hair) findings, 3) atopic dermatitis. We describe two siblings affected by Netherton/Comèl syndrome who were referred to our Center for Genodermatosis. A diagnostic pathway and the description of a new SPINK5 variant has been determined for these two patients. A novel genetic mutation has been found.

Background: Depending on the severity and region of baldness, numerous researchers proposed different classifications of alopecia. However, these previous classifications have some limitations. The study aimed to establish a semiquantitative grading scale for frontal and vertex androgenetic alopecia (AGA) in both males and females., Methods: Standardized pictures from 1,602 AGA cases were obtained. Three sets of reference photographs with different alopecia extents from scale 0 to 5 were developed with detailed description. The photographs covered the vertex, frontal of men, and vertex + frontal (V+F) area of the scalp of women. Hair density and the ratio of vellus and terminal hairs in the alopecia area were quantitatively measured by DermDOC ® dermoscopy. Hair coverage rate of alopecia area was calculated by Photoshop software. Multirater consensus method was used to test the reliability and validity of the alopecia scale., Results: Fleiss-Kappa coefficients of the three sets of reference photographs for interobserver analysis reached 0.81-0.89. The overall Kendall's coefficients for intraobserver assessment totaled 0.934-0.963., Conclusion: This new grading scale is a more sensitive and objective quantitative grading scale for alopecia and treatment response compared with the existing classification., (© 2018 The International Society of Dermatology.)

Despite patchy hair loss being typically observed in alopecia areata (AA), similar lesions can be seen in other forms of alopecia and the diagnosis is sometimes challenging. Of note, patchy primary scarring alopecia (SA) needs to be clearly distinguished from AA as SA can leave permanent hair loss. Herein, we report a previously unreported case of AA coexisting with SA successfully diagnosed by detailed trichoscopic investigation. A 42-year-old woman visited us with patchy hair loss lesions on the scalp. On physical examination, alopecic lesions sized up to 2 cm in diameter were observed in the right temporal and parietal regions. A gentle hair pull test collected dystrophic anagen hairs from some patches. Trichoscopy detected tapering hairs and black dots. The diagnosis of AA was made. However, some reddish patches were totally hair pull test negative, urging us to further evaluate the remaining lesions. Additional trichoscopic investigation revealed the disappearance of follicular ostia and the presence of a white and milky-red area and peripilar scales, suggestive of SA. In histology, the clinically AA lesion showed peribulbar cell infiltration, while the potentially SA lesion demonstrated inflammatory cell infiltration around the isthmus and the decrease in hair follicles, some of which were replaced by fibrotic tissue. The final diagnosis of AA coexisting with SA was made. Intralesional corticosteroid injection improved AA but not SA. These findings emphasize the need for thorough trichoscopic examination for accurate diagnoses of rare hair loss conditions., (© 2019 Japanese Dermatological Association.)

Background: The application of heat, used to straighten the typically coiled hair, has long been hypothesized to play a role in the etiologic factor for central centrifugal cicatricial alopecia (CCCA). The aim of this study was to evaluate the effect of thermal hair straightening on hair loss pattern in Asian women exist., Materials and Methods: Thirty-five patients with hair loss who have been using hair straightening devices and 25 patients with telogen effluvium were enrolled in this prospective study. Laboratory analysis and dermatoscopic findings were used to compare these groups., Results: The peripilar white halo around hairs, peripilar dark/gray halo around follicular orifices, the predominance of a single hair perifollicular unit (FU), hair diameter diversity, the thin miniaturized hair, interfollicular pinpoint white dots, and white patches were statistically higher in hair straightener group (P < 0.001). White patches of the scalp increased by the time of the application of these devices (P < 0.01). White patches of vertex region were significantly higher than the midfrontal region (P < 0.01)., Conclusion: The common side effects of thermal hot comb strengtheners' were summarized as damage to the hair shaft; decreasing in the brightness of the hair, burns, and scars on the scalp; and lastly CCCA-like hair loss., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

FAM83G/Fam83g genetic variants have been described in dogs, mice and recently also in humans. They are associated with palmoplantar keratoderma and altered hair or coat phenotype, reported as wooly phenotype in mice. FAM83G/Fam83g is an unexplored effector of temporally and spatially coordinated Wnt and BMP signalling which are key pathways in pre- and postnatal hair follicle morphogenesis and differentiation. The aim of this study was to unravel phenotypic consequences of FAM83G/Fam83g variants on hair coat formation in dogs and mice. Our results show differences in hair types and hair shaft structures in both species. Additionally, mice exhibit deregulated hair cycle progression which timely correlates with defective Wnt signalling (Axin2) and Bmp2/4 expression. These results affirm the involvement of FAM83G in hair morphogenesis, hair follicle differentiation and cycling., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

This study aimed to assess the sublethal effects of a platinum-based compound, cisplatin, using a zebrafish model. Zebrafish embryos were incubated in different concentrations of cisplatin at 0-96 h post-fertilization. Using a non-invasive, scanning ion-selective electrode technique (SIET), we measured the functions of hair cells (Ca 2+ influx) and ionocytes ([H + ] gradients). The survival rate, hatching rate, phenotype, body length, whole-body ion (Na + , Cl - , and Ca 2+ ) and Pt contents were also determined. The effects of cisplatin on zebrafish embryos were demonstrated as first impairing hair cell function (at 1 μM of cisplatin), the hair cell number, and body ion content of Cl - (at 10 μM of cisplatin), then decreasing ionocyte acid secretion and overall body ion contents of Na + and Ca 2+ (at 50 μM of cisplatin). The body length and ionocyte density decreased at 100 μM of cisplatin, and survival decreased at 500 μM of cisplatin. As the cisplatin concentration increased, the accumulation of Pt in fish embryos also increased. These results revealed that hair cells are significantly more susceptible to cisplatin toxicity than ionocytes. By determining the lowest observed effective concentration of cisplatin that caused in vivo functional alterations of zebrafish hair cells and skin ionocytes, this model demonstrated 500-fold greater sensitivity than by detecting changes in survival, for early assessment of the effects of platinum-based chemotherapeutic drugs on fish., (Copyright © 2019 Elsevier B.V. All rights reserved.)

We report a 6-month-old girl born with a fronto-parietal patch of hair straighter than the remainder of the scalp hairs. We took a biopsy to rule out a congenital melanocytic nevus. We concluded after additional scanning electron microscopy study of the hair shafts that the lesion corresponds to a possible local mosaicism causing an isolated straight hair nevus phenotype., (© 2019 Wiley Periodicals, Inc.)

Trichotillomania is a form of traction alopecia resulting from repetitive and compulsive hair pulling and plucking. Trichotillomania and patchy alopecia areata may have similar clinical and dermoscopic features in some cases. On trichoscopic examination, the presence of black dots, coiled or hook hair, shafts of varying lengths with fraying or split ends (trichoptilosis), and an absence of exclamation mark hairs and yellow dots are suggestive of trichotillomania., (© 2019 Wiley Periodicals, Inc.)

Bald thigh syndrome is a common hair loss disorder in sighthounds. Numerous possible causes, including environmental conditions, trauma, stress, endocrinopathies and genetic components have been proposed, but only endocrinopathies have been ruled out scientifically. The overall goal of our study was to identify the cause of bald thigh syndrome and the pathological changes associated with it. We approached this aim by comparing skin biopsies and hair shafts of affected and control dogs microscopically as well as by applying high-throughput technologies such as genomics, transcriptomics and proteomics. While the histology is rather unspecific in most cases, trichogram analysis and scanning electron microscopy revealed severe structural abnormalities in hair shafts of affected dogs. This finding is supported by the results of the transcriptomic and proteomic profiling where genes and proteins important for differentiation of the inner root sheath and the assembly of a proper hair shaft were downregulated. Transcriptome profiling revealed a downregulation of genes encoding 23 hair shaft keratins and 51 keratin associated proteins, as well as desmosomal cadherins and several actors of the BMP signaling pathway which is important for hair shaft differentiation. The lower expression of keratin 71 and desmocollin 2 on the mRNA level in skin biopsies corresponded with a decreased protein expression in the hair shafts of affected dogs. The genetic analysis revealed a missense variant in the IGFBP5 gene homozygous in all available Greyhounds and other sighthounds. Further research is required to clarify whether the IGFBP5 variant represents a predisposing genetic risk factor. We conclude from our results that structural defects in the hair shafts are the cause for this well-known disease and these defects are associated with a downregulation of genes and proteins essential for hair shaft formation. Our data add important knowledge to further understand the molecular mechanisms of HF morphogenesis and alopecia in dogs., Competing Interests: We confirm that DermaVet, the clinic owned by Silvia Rüfenacht does not alter our adherence to PLOS ONE policies on sharing data and materials.

Background: The relationship between female pattern hair loss (FPHL) and androgenic hormones is not well established, but some evidence indicates oral finasteride may be efficacious in FPHL. Use of a topical formulation has been proposed to minimize unwanted effects., Objectives: Our objective was to compare the efficacy and safety of topical 0.25% finasteride combined with 3% minoxidil solution and 3% minoxidil solution as monotherapy in the treatment of FPHL., Methods: This was a prospective, randomized, double-blind study in 30 postmenopausal women with FPHL. Each participant was randomized to receive either topical 0.25% finasteride combined with topical 3% minoxidil or topical 3% minoxidil solution as monotherapy for 24 weeks. To determine efficacy, the hair density and diameter was measured and global photographic assessment was conducted at baseline and 8, 16, and 24 weeks. Side effects and serum dihydrotestosterone levels were also evaluated., Results: By 24 weeks, hair density and diameter had increased in both groups, and finasteride/minoxidil was significantly superior to minoxidil solution in terms of hair diameter (p = 0.039). No systemic side effects were reported. However, serum dihydrotestosterone levels in the finasteride/minoxidil group significantly decreased from baseline (p = 0.016)., Conclusion: A topical combination of 0.25% finasteride and 3% minoxidil may be a promising option in the treatment of FPHL with an additional benefit of increasing hair diameter. Nevertheless, as it may be absorbed percutaneously, it should be reserved for postmenopausal women., Trial Registration: clinicaltrials.in.th; identifier TCTR20160912002.

To date, there is only scarce evidence for a considerable association of subjective and objective stress measures, which might be attributable to method bias (e.g., confounding) and/or asynchrony of their temporal changes. To validate different subjective stress measures by a physiological measure of long-term stress (hair cortisol concentrations; HCC), 37 heterosexual couples (N = 74) completed a 12-week internet-based assessment protocol comprised of a weekly hassle scale (WHS; once per week), a perceived stress scale (PSS; once per month), and a chronic stress scale (TICS; once after three months). Partners provided vicarious stress ratings. When averaged across time, self-reported WHS significantly predicted HCC (r = 0.27), whereas the PSS and TICS did not (r < 0.22). Dynamic factor analysis (i.e., state-space modelling) confirmed that WHS was the most valid indicator of subjective stress, explaining up to 16% of the variance in HCC (r = 0.37) with a time lag of ~4 weeks. This temporally delayed effect of subjective stress is consistent with the presumed retrospective character of HCC, but also suggests that the majority of variance in hair cortisol is attributable to other causes than subjective stress such as individual disposition to display increased adrenocortical activity.

Background: Trichothiodystrophy nonphotosensitive 1 (TTDN1) is a disease with mental retardation, brittle hair. Some cases of the diseases are caused by mutations of the MPLKIP gene., Methods: We carefully identified the clinic characteristics, the sulfur level and pattern of the hair shafts of a female patient of with the symptom of hypergonadotropic hypogonadism, and of her parents and brother whose are healthy. We also collected the blood sample of the patient and performed the exon sequencing. One G insertion in MPLKIP was identified after analyzing the obtained exon sequencing profile. The G insertion sites in the patient, her parents and brother, were verified using Sanger sequencing. The G insertion in MPLKIP were compared to the dbSNP., Results: The female patient of TTDN1 carries a homozygous G insertion (rs747470385) in the MPLKIP gene. The parents and brother of the patient are heterozygous carriers of the same mutation, but are healthy. The hair shafts of the patient had a tiger-tail pattern with relatively low sulfur levels. To the best of our knowledge, this is the first report that autosomal recessive inheritance of the G insertion in the MPLKIP gene results in TTDN1., Conclusion: Our results indicate that the homozygotic G insertion in MPLKIP results in the TTDN1 with hypergonadotropic hypogonadism, while heterozygous carriers of the same mutation have no symptoms and healthy. These results provide novel insights into the association of mutations in MPLKIP and TTDN1 with hypergonadotropic hypogonadism.

Pyrrole adducts are specific reaction products of 2,5-hexadione (2,5-HD) in vivo and are considered highly relevant to the pathogenesis of peripheral nerve impairments after exposure to n-hexane, though the exact mechanism remains unclear. In this study, 40 male Wistar rats were randomly divided into three experimental groups and one control group, in which all rat's hair were shaved completely at the beginning. The rats in three experimental groups were treated with 2,5-HD by gavage at dosages of 100, 200 and 300 mg/kg per day respectively, six times per week for 8 weeks. Abnormality of gait and changes in the rota-rod latency were surveilled. Pyrrole adducts in hair, urine and serum of all rats were measured at the endpoint. Results showed that the increased pyrrole adducts in hair, urine and serum accumulated in dose-response relationship. Spearman's correlation analysis between pyrrole adducts and gait scores showed that hair pyrrole adducts were highly relevant to the gait scores. Moreover, we treated rats with n-hexane and succeed to verify the results aforesaid. Further, multiply linear regression analysis showed that hair pyrrole adducts have higher partial correlation coefficients than these in serum and urine in both 2,5-HD and n-hexane treated models. Our findings draw the conclusion that the hair pyrrole adducts might serve as a promising biomarker of n-hexane induced peripheral neuropathy., Competing Interests: No conflict of interest exits in the submission of this manuscript. I would like to declare on behalf of my co-authors that the work described was original research, has not been published previously, and not under consideration for publication elsewhere, in whole or in part. All the authors listed have approved the manuscript that is enclosed.

Introduction: Tinea capitis is a scalp infection caused by different fungi. Etiological diagnosis is based on suggestive clinical findings and confirmation depends on the fungus growth in culture. However, it is not always possible to perform this test due to lack of availability. The association of clinical and dermatoscopic findings in suspected cases of tinea capitis may help the identification of the etiological agent, facilitating precocious, specific treatment., Materials and Method: We report a prospective descriptive analytical study of 34 children with tinea capitis. We performed a trichoscopic examination of all patients; only six children were able to have the mycological culture., Results: Trichoscopy was abnormal in all 34 patients; it showed hair shaft abnormalities and, in some cases, scalp disorders too. We found that the comma and corkscrew appearance was found in microsporic tinea capitis, V-shaped hair was mainly seen in inflammatory tinea capitis, scales and follicular keratosis in non-inflammatory tinea capitis, and crusts and follicular pustules in inflammatory tinea capitis. Finally, erythema was seen in trichophytic and inflammatory tinea capitis., Conclusion: We propose a classification of trichoscopic signs of tinea capitis. This classification will enable rapid diagnosis and prediction of the type of fungus before mycological culture, thus a faster and more adapted management. Our study shows the importance of trichoscopy in the diagnosis and monitoring of tinea capitis. We suggest further prospective studies with a larger number of patients with tinea capitis, having performed mycological culture, to confirm this classification.

The interaction between hair and malignancy is complicated. Various hair abnormalities can manifest in oncology patients as a clinical manifestation, the result of cancer therapy, or due to a paraneoplastic condition. The mechanisms of these changes remain unclear. Alopecia is one of the common clinical presentations occurring in oncology patients that affects their quality of life. The condition can concomitantly develop during the course of malignancy or when patients undergo cancer treatment. It is important for physicians to understand alopecia in association with malignancy as it may be an important associated finding or provide the clues to aid diagnosis. The aim of this review is to summarize the clinical characteristics of alopecia that occur in cancer patients and their relationship with the type of malignancy and its treatment.

Introduction: Griscelli syndrome (GS) is a rare autosomal-recessive genetic disease characterized by hypopigmentation of skin and hair. We report a case of GS type 3 with late diagnosis., Observation: A 31-year-old female patient had presented depigmentation of the hair and eyebrows as well as diffuse skin hypopigmentation during childhood. Microscopic analysis of a hair shaft revealed irregularly distributed clumps of melanin. DNA sequencing showed a homozygous C103T (R35W) transition in exon 1 of MLPH, confirming Griscelli syndrome type 3., Discussion: Three clinical phenotypes of GS have been described based on the underlying genetic defect. GS type 1 and 2 are associated respectively with a central nervous system dysfunction and an immune defect. GS type 3 is an isolated cutaneous form. Diagnosis is confirmed on microscopic examination of hair shafts. 15 cases of GS type 3 have been reported: 9 in males and 6 in females. Mean age at diagnosis is around 12 years. Nine of the reported patients were of Arab origin, four of Turkish origin, and one of Indian origin. R35W mutation was described in 9 cases and E98X and R35Q mutations were each found in one case., Conclusion: GS should be suspected in patients presenting gray silvery hair, particularly when these patients are of Arab or Turkish origin., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

Background: Polyquaterniums (PQs) as important ingredients of hair products are synthetic cationic polymers and are used in commercial hair volumizers and conditioners., Methods: Three different grades of polymers including PQ 87, 68, and 46 with various concentrations were used, and their hair deposition efficacy was measured at 5 different pH values using hair diameters measurements by digital micrometer. Deposition durability of polymer layer on the hair surface was tested by a defined washing test. Optical microscopic images and polarized light images were also taken from treated and untreated samples for further investigation. Attenuated total reflectance (ATR) spectral were recorded from hair samples to prove the polymer deposition and probable interaction with hair fibers., Results: PQ-68 with the highest molecular weight (300 kDa) at pH = 9 exhibited the best hair deposition efficacy. The results revealed that the deposition of polymers is directly proportional to the pH values. The best results were seen at pH = 9, and at the lowest pH (pH = 5), the efficiency of polymers was approximately equal to zero. The best resistance against washing was shown by PQ-44 at pH = 6. ATR successfully tracked the presence of the polymers on the hair fibers and also proposed specific wave numbers for each polymeric agent, individually., Conclusions: In general, two main parameter which can mainly influence the deposition efficacy of PQs are the type of polymer or its molecular weight and also the positive charge density on the polymer molecules., (© 2017 Wiley Periodicals, Inc.)

A postmortem root band (PMRB) is defined as "an opaque ellipsoidal band composed of a collection of parallel elongated air/gas spaces and is approximately 0.5mm above the root bulb and about 2mm below the skin surface" [1]. It is generally accepted that it can appear in the root of hairs attached to remains during decomposition [1]. This study aimed to investigate the underlying cause and mechanism of PMRB formation. This was done (i) by observing the overall frequency and the intrinsic variability in anagen hairs containing a PMRB collected across five regions of a human decedent's scalp at three time points, and (ii) by determining if PMRB-like features can be induced via immersion in in-vitro controlled environments of anagen hairs plucked from the scalp of a human decedent (ex-situ postmortem hairs) not containing a PMRB. The results of the first objective illustrated that as time since death increased, the frequency of hairs containing a PMRB across the scalp sampling regions increased and the intrinsic variability decreased. The results of the second objective demonstrated that both an aqueous environment and microbial activity are essential for the formation of PMRB-like features. This study was the first to statistically analyze the intrinsic variability of PMRB formation, as well as the first to induce PMRB-like features in roots of ex-situ postmortem hairs., (Published by Elsevier B.V.)

Background: Patients with cartilage-hair hypoplasia (CHH), a rare metaphyseal chondrodysplasia, manifest severe growth failure, variable immunodeficiency and increased risk of malignancies. The impact of CHH on gynecologic and reproductive health is unknown. Vulnerability to genital infections may predispose CHH patients to prolonged human papillomavirus (HPV) infections potentially leading to cervical, vaginal and vulvar cancer., Methods: We carried out gynecologic evaluation, pelvic ultrasound and laboratory assessment in 19 women with genetically confirmed CHH. All patients were clinically examined and retrospective data were collected from hospital records., Results: The women ranged in age from 19.2 to 70.8 years (median 40.8 years) and in height from 103 to 150 cm (median 123 cm). All women had undergone normal pubertal development as assessed by breast development according to Tanner scale and by age of menarche (mean 12.5 yrs., range 11-14 yrs). Despite significant short stature and potentially small pelvic diameters, a well-developed uterus with fairly normal size and shape was found by pelvic ultrasound in most of the patients. Ovarian follicle reserve, assessed by ultrasound was normal in relation to age in all premenopausal women it could be assessed (12 cases). Anti-Müllerian hormone was normal in relation to age in 17 women (89%). HPV was detected in 44% (8/18) and three women carried more than one HPV serotype; findings did not associate with immunological parameters. Three patients had a concurrent cell atypia in Pap smear., Conclusions: Pubertal development, reproductive hormones and ovarian structure and function were usually normal in women with CHH suggesting fairly normal reproductive health. However, the immunodeficiency characteristic to CHH may predispose the patients to HPV infections. High prevalence of HPV infections detected in this series highlights the importance of careful gynecologic follow up of these patients.

Acquired trichorrhexis nodosa is an uncommon hair disorder, defined as a cuticle response to extrinsic or environmental insults, such as certain chemical agents. In the following report, we present a clinical case of acquired trichorrhexis nodosa and make a critical comparison by trichoscopy, optical microscopy, and scanning electron microscopy. Some diagnostic tools can provide high quality information, but their high cost and low access make them an inconvenient option. When comparing the cost-benefit ratio of each one, we conclude that acquired trichorrhexis nodosa can be easily diagnosed with a careful clinical history and examination using a dermatoscope with non-polarized light.

Comma and corkscrew hairs are trichoscopic markers of tinea capitis. Although comma hairs have been reported in both black and white patients with tinea capitis, corkscrew hairs were previously hypothesized to manifest exclusively in patients with curly or African hair types. However, we report a significant number of comma and corkscrew hairs in a Hispanic female patient with naturally straight hair and Trichophyton tonsurans tinea capitis. Thus, dermoscopy is a rapid, noninvasive, and cost-effective tool for evaluating tinea capitis and should be used in combination with culture in all patients regardless of hair texture or race.

It is generally accepted within the forensic trace evidence community that a postmortem root band (PMRB) can appear in the root of hairs attached to remains during decomposition. Presently, the specific sequences of events and/or exact molecular signals that lead to the formation of a PMRB are not well understood. The published literature addressing the abiotic and biotic factors that correlate with the formation of PMRBs is reviewed and a conceptual model for the formation of PMRBs is proposed., (© 2018 American Academy of Forensic Sciences.)

Background/objectives: Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. The objective was to compare the pattern of melanin in the skin and with the pattern of melanin distribution in the hair shaft., Methods: Sixteen patients with silvery hair syndrome were selected (Chediak-Higashi syndrome 5, Griscelli syndrome 11). The distribution of melanin granules in skin and hair shafts was compared and correlated with clinical diagnoses., Results: Chediak-Higashi syndrome was characterized by small granules of melanin uniformly distributed throughout the thickness of the epidermis. Griscelli syndrome was characterized by an irregular pigment distribution in the epidermal basal layer with large and dense granules alternating with areas lacking melanin pigment. In two cases, study of the hair was not conclusive, but the skin showed the characteristic pattern of Griscelli syndrome., Conclusion: Skin biopsy is a useful tool in differentiating Chediak-Higashi syndrome from Griscelli syndrome and as a complementary study in cases in which hair shaft pigment distribution does not support the diagnosis, especially in patients with fair hair. The distribution of melanin granules in the skin correlates with that observed in the hair shaft, allowing Chediak-Higashi syndrome to be differentiated from Griscelli syndrome, at any age., (© 2018 Wiley Periodicals, Inc.)

Background: Androgenetic alopecia or female pattern hair loss is the condition that most commonly leads to hair loss in adult females. The trichoscope is used for the early diagnosis of the disease. The study aims at finding a possible association between trichoscopic signs and disease severity in dark-skinned females., Methods: This was an observational study involving trichoscopic examination of 129 females with different hair disorders., Results: Clinical and trichoscopic examination revealed 79 patients with androgenetic alopecia. All patients showed hair shaft diameter diversity. The predominance of one hair per follicle was found in 97.4% (77/79), peripilar brown halo in 32.9% (26/79), peripilar white halo in 10.1% (8/79), and honeycomb-like scalp pigmentation in 17.7% (14/79) of patients, yellow dots in 15.2% (12/79), white dots in 20.3% (16/79), and hidden hair in 7.6% (6/79). Yellow dots and white dots were positively correlated with the advanced Ludwig and Sinclair staging of hair loss. Peripilar sign, honeycomb pigmentation, and white dots were associated significantly with darker skin types. The other 50 patients were diagnosed with the following: normal healthy controls (10/50), telogen effluvium (25/50), alopecia areata (4/50), fibrosing alopecia in pattern distribution (4/50), folliculitis decalvans (2/50), discoid lupus erythematosus (1/50), lichen planopilaris (2/50), frontal fibrosing alopecia (1/50), and end-stage cicatricial alopecia (1/50)., Conclusions: The yellow dot and white dot signs are suggested as new dermoscopic findings in advanced androgenetic alopecia. Peripilar sign, honeycomb pigmentation, and white dots are characteristic signs of female androgenetic alopecia in ethnic groups of darker skin., (© 2018 The International Society of Dermatology.)

Cutaneous and systemic lupus erythematosus (SLE) commonly involves the hair and scalp. Alopecia can result from direct activity of disease on the scalp or from the state of physical stress in the form of telogen effluvium. Discoid lupus erythematosus and lupus panniculitis/profundus are known to cause scarring alopecia, while accumulation of recent studies has shown that non-scarring alopecia in SLE may have different subtypes, comprising lupus erythematosus-specific and lupus erythematosus-nonspecific changes on histology. This review aims to summarize the clinical pattern, trichoscopic, histopathological, and direct immunofluorescence features of different types of alopecia in cutaneous and systemic lupus erythematosus, as well as exploring their relationship with SLE disease activity.

Hair plays a large part in communication and society with its role changing through time and across cultures. Most people do not leave the house before combing their hair or shaving their beard and for many hair loss or irregular hair growth can have a significant impact on their psychological health. Somewhat unsurprisingly, according to GMR Data, today's global hair care industry is worth an estimated $87 Billion, with hair loss estimated at $2.8 Billion. Considering that no current hair loss-related products can completely reverse hair loss, it is reasonable to believe this market could expand significantly with the discovery of a comprehensive therapy. As such, a great deal of research focuses on overcoming hair loss, and in particular, a common form of hair loss known as androgenetic alopecia (AGA) or male pattern baldness. In AGA, hair follicles miniaturise in a large step change from a terminal to a vellus state. Within this viewpoint article, we discuss how influx and efflux of cells into and out from the dermal papilla (DP) can modulate DP size during the hair cycle. As DP size is positively correlated with the size of the hair fibre produced by a follicle, we argue here that therapies for treating AGA should be developed which can alter DP size, rather than just promote hair growth. We also discuss current therapeutics for AGA and emphasise the importance of using the right model systems to analyse miniaturisation., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Intravenous corticosteroid pulse therapy (pulse therapy) has been reported to be effective for rapidly progressive alopecia areata (RP-AA). Mostly, a single 3-day administration of corticosteroid (methylprednisolone 500 mg/day) has been performed in Japan; however, to what extent additional administrations improve the outcome has not been fully elucidated. To assess the advantage of repeating the pulse therapy to RP-AA cases refractory to the initial intervention, retrospective clinicopathological analysis was performed. Detailed chronological analysis was conducted in eight cases (one man and seven women; average age, 38.3 ± 10.4 years) demonstrating total scalp hair loss 3 months after the first pulse therapy and treated with additional rounds of the pulse therapy. All cases manifested total hair loss, scalp edema, itch or pain on the scalp after the initial intervention. Histopathological analyses of affected lesions prior to additional pulse therapies revealed persisting dense perifollicular lymphocytic inflammation in all cases. Interestingly, such inflammatory change tended to be severer when compared with previously reported pulse therapy good responders. Extra pulse therapy resulted in partial regrowth of terminal hairs in three out of eight cases, but all of them experienced relapse in the long run. The literature review also suggested limited efficacy of repeating pulse therapy to severe AA cases. These findings suggested that the efficacy of currently conducted repetitive pulse therapy is limited in RP-AA cases with extensive perifollicular inflammation and resistant to the initial pulse therapy. Modulation of the dose and the interval of intervention, in combination with alternative approaches, may be required to achieve a successful outcome., (© 2018 Japanese Dermatological Association.)