Reporte de Caso: efluvio telógeno agudo post COVID-19 asociado a receptores androgénicos / Case Report: acute telogen effluvium post COVID-19 associated with androgen receptors

Antecedentes: El efluvio telógeno puede ser definido como una pérdida de cabello difusa y sin cicatrices que ocurre alrededor de 2-3 meses después de un evento desencadenante y usualmente autolimitado. En la actualidad, la infección por COVID-19 se ha relacionado con manifestaciones dermatológicas, entre las cuales se encuentra el efluvio telógeno. Descripción del caso clínico: Se presenta el caso de una paciente femenina, de 48 años quien acudió a consulta refiriendo una pérdida brusca y masiva de cabello de aproximadamente 30-40% de las unidades foliculares, de dos semanas de evolución. Sin antecedentes familiares de pérdida de cabello, neumonía en la infancia, con antecedentes de alopecia androgénica por parte de su padre, con infección previa por COVID-19 confirmada por laboratorio. Al realizar la exploración física se observó prueba Pull positivo, aspecto macroscópico fino y deshidratado y pérdida de densidad generalizada sin alteraciones dérmicas. La tricoscopía mostró folículos vacíos y más del 20% en fase telógena. Se diagnosticó Efluvio telógeno post COVID-19 y alopecia androgénica de base (subclínica). Conclusiones: Con un número creciente de pacientes en recuperación de COVID-19, el riesgo de desarrollar esta manifestación dermatológica física y emocionalmente angustiante probablemente continuará en ascenso. Gracias a la implementación de pruebas genéticas específicas (Tricológico) se identificó a la paciente en fase temprana de alopecia androgénica femenina (FAGA), una patología pobremente diagnosticada en este sexo...(AU)

Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness

Abstract Monilethrix is a rare defect of the hair shaft, with most cases showing an autosomal dominant pattern of inheritance and variable clinical expression. It is characterized by hypotrichosis secondary to hair fragility. The diagnosis is made through trichoscopy, detecting typical findings such as periodic narrowing at regular intervals, giving the hair the appearance of beads in a rosary. This article reports the case of six members of a family diagnosed with monilethrix with alopecia of varying degrees.

Identification of SNP c. -22G>A in the melanophilin gene from a dog with color dilution alopecia: case report / Identificação do SNP c. -22G>A no gene da melanophilina em um cão com alopecia por diluição da cor: relato de caso

Mutant color alopecia is an ectodermical defection of color dilution, characterized by partial alopecia, dry, shine-less hair, and peeling and papule. Melanization damages also occur on the cortical structure of the affected hair. The animals affected have big melanin grains with irregular shape on the basal keratinocytes, also on the hair matrix cells and rod. Therefore, there is not a specific treatment that makes any difference on the syndrome evolution. Although in some animals, it is possible to use weekly showers with benzyl peroxide to reduce seborrhea formation and secondary infections. There is evidence that the condition in dogs is caused by a single nucleotide polymorphism in the gene encoding the melanophilin protein. In the present study the identification of the SNP c.-22G>A in the melanophilin gene of a Dachshund breed dog with clinical and histopathologic evidence of color dilution alopecia is reported.(AU)

Alopecia por diluição da cor é um defeito ectodérmico caracterizado por alopecia parcial, pelagem seca e sem brilho, escamação e pápulas em áreas com defeitos na melanização e na estrutura cortical dos pelos. Os animais acometidos têm grânulos de melanina grandes e com formato irregular nos ceratinócitos basais, nas células da matriz dos pelos e nas hastes pilosas. Não existe tratamento específico que altere a evolução da síndrome, mas, em alguns animais, podem ser benéficos banhos semanais com xampu de peróxido de benzoíla, para reduzir a formação de seborreia e infecções secundárias. Há evidências de que a condição em cães é causada por uma mutação de ponto no gene que codifica a proteína melanophilina. No presente estudo, é relatada a identificação da mutação SNP c.-22G>A no gene da melanophilina em um cão da raça Dachshund com evidências clínicas e histopatológicas de alopecia por diluição da cor.(AU)

Knockout of p16INK4a promotes aggregative growth of dermal papilla cells

Summary Objective: Dermal papilla cells (DPCs) are located in the hair follicles and play an important role in hair growth. These cells have the ability to induce hair follicle formation when they display aggregative behavior. DPCs derived from the androgenetic alopecia (AGA) area undergo premature senescence in vitro, associated with p16INK4a expression. The aim of the current study was to investigate the expression of p16INK4a in aggregative and non-aggregative DPCs and the effect of p16INK4a down-regulation in these cells by adenovirus-mediated RNA interference (RNAi). Method: DPCs were isolated and cultured from healthy human scalp. p16INK4a gene and protein were detected in aggregative and non-aggregative cells. Expression of p16INK4a in DPCs was silenced by infection with rAd5-CDKN1A-1p2shRNA. Cell fate was monitored after infection. The growth of cells was measured by MTT assay. Cell cycle was evaluated by flow cytometry (FCM). Results: DPCs were isolated by digestion and showed aggregative behavior for six passages. The expression of p16INK4a showed a clear upward trend in non-aggregative cells when compared with aggregative group. p16INK4a expression was silenced by rAd5-CDKN1A-1p2shRNA (p<0.05). The p16INK4a-silenced cells grew more rapidly and exhibited a trend towards aggregative growth. There was an increase in the proportion of cells in G1 phase, while those in S phase were reduced after p16INK4a gene silencing (p<0.05). Conclusion: Our results suggest that p16INK4a plays an important role in the premature senescence and aggregative behavior of DPCs. These observations can lead to novel therapeutic strategies for treatment of AGA.

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging / Uma orientação diagnóstica para neurodegeneração com acúmulo cerebral de ferro: aspectos clínicos, genéticos e de neuroimagem

ABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.

RESUMO A neurodegeneração com acúmulo cerebral de ferro (sigla em inglês NBIA) representa um grupo heterogêneo e complexo de doenças neurodegenerativas hereditárias, caracterizada pelo acúmulo cerebral de ferro, especialmente nos núcleos da base. O quadro clínico das NBIAs em geral inclui distúrbios do movimento, particularmente parkinsonismo e distonia, disfunção cognitiva, sinais piramidais e anormalidades da retina. As formas de NBIA descritas até o momento incluem neurodegeneração associada a pantothenase kinase (PKAN), neurodegeneração associada a phospholipase A2 (PLAN), neuroferritinopatia, aceruloplasminemia, neurodegeneração associada a beta-propeller protein (BPAN), síndrome de Kufor-Rakeb, neurodegeneração associada a mitochondrial membrane protein (MPAN), neurodegeneração associada a “fatty acid hydroxylase” (FAHN), neurodegeneração associada a coenzyme A synthase protein (CoPAN) e síndrome de Woodhouse-Sakati. Esta revisão é uma orientação para o diagnóstico das NBIAs, partindo das características clínicas e achados de neuroimagem, até a etiologia genética.

The effectiveness of finasteride and dutasteride used for 3 years in women with androgenetic alopecia.

Background: The effectiveness of finasteride and dutasteride in women with androgenetic alopecia has been the subject of debate. Aim: To evaluate the effectiveness of finasteride and dutasteride on hair loss in women with androgenetic alopecia over a period of 3 years. Methods: From a database containing systematically retrieved data on 3500 women treated for androgenetic alopecia between 2002 and 2012 with finasteride 1.25 mg or dutasteride 0.15 mg, a random sample stratified for age and type of medication was taken to yield 30 women in two age categories: below and above 50 years, and for both medications. Hair thickness of the three thinnest hairs was measured from standardized microscopic images at three sites of the scalp at the start of the treatment and after 3 years of continuous medication intake. The macroscopic images were evaluated independently by three European dermatologists/hair experts. The diagnostic task was to identify the image displaying superior density of the hair. Results: Both age categories showed a statistically significant increase in hair thickness from baseline over the 3‑year period for finasteride and dutasteride (signed rank test, P = 0.02). Hair thickness increase was observed in 49 (81.7%) women in the finasteride group and in 50 (83.3%) women in the dutasteride group. On average, the number of post‑treatment images rated as displaying superior density was 124 (68.9%) in the finasteride group, and 118 (65.6%) in the dutasteride group. Dutasteride performed statistically significantly better than finasteride in the age category below 50 years at the central and vertex sites of the scalp. Conclusions: Finasteride 1.25 mg and dutasteride 0.15 mg given daily for 3 years effectively increased hair thickness and arrested further deterioration in women with androgenetic alopecia.

Female pattern hair loss.

Female pattern hair loss (FPHL) is a common cause of hair loss in women characterized by diffuse reduction in hair density over the crown and frontal scalp with retention of the frontal hairline. Its prevalence increases with advancing age and is associated with significant psychological morbidity. The pathophysiology of FPHL is still not completely understood and seems to be multifactorial. Although androgens have been implicated, the involvement of androgen-independent mechanisms is evident from frequent lack of clinical or biochemical markers of hyperandrogenism in affected women. The role of genetic polymorphisms involving the androgen and estrogen receptors is being increasingly recognized in its causation and predicting treatment response to anti-androgens. There are different clinical patterns and classifications of FPHL, knowledge of which facilitates patient management and research. Chronic telogen effluvium remains as the most important differential diagnosis. Thorough history, clinical examination, and evaluation are essential to confirm diagnosis. Patients with clinical signs of androgen excess require assessment of biochemical parameters and imaging studies. It is prudent to screen the patients for metabolic syndrome and cardiovascular risk factors. The treatment comprises medical and/or surgical modalities. Medical treatment should be initiated early as it effectively arrests hair loss progression rather than stimulating regrowth. Minoxidil continues to be the first line therapy whereas anti-androgens form the second line of treatment. The progressive nature of FPHL mandates long-term treatment for sustained effect. Medical therapy may be supplemented with cosmetic concealment in those desirous of greater hair density. Surgery may be worthwhile in some carefully selected patients.

Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings.

Trichilemmal cyst, also known as "pilar cyst," is a benign cyst containing keratin and its breakdown products with a wall resembling external root sheath of hair. It occurs mostly in females as a solitary firm nodule over scalp. Occurrence of multiple trichilemmal cysts in areas other than scalp is extremely rare. We are reporting a case of a 40-years-old female who presented with multiple calcified trichilemmal cysts in multicentric distribution associated with alopecia universalis. Similar complaints were present in elder sister of the patient, indicating a genetic background. Multicentric distribution of trichilemmal cysts, calcification, familial occurrence, and association with alopecia universalis seen in our case are all rare and intriguing features.

Apoptose, microinflamação e expressão de receptores de hidrocarboneto arílico nos folículos pilosos de pacientes com alopecia de padrão feminino / Apoptosis, microinflamation and expression of aryl hydrocarbon receptors in hair follicles of patients with female pattern hair loss

Alopecia de padrão feminino, ou alopecia androgenética feminina, é a principal causa de queda de cabelos em mulheres adultas, e inflige importante impacto na qualidade de vida das pacientes. Decorre da progressiva miniaturização de folículos pilosos e posterior diminuição da densidade dos fios, originando um quadro de alopecia difusa não cicatricial, com padrão clínico, dermatoscópico e histológico característicos. Apesar da elevada frequência e da relevância quanto ao impacto psicológico, sua fisiopatogenia não é ainda totalmente esclarecida, sofrendo influência de elementos genéticos, hormonais e ambientais. Além disso, a resposta ao tratamento é inconstante. Os receptores de hidrocarboneto arílico (AhR) podem ser ativados por diversos ligantes ambientais como poluentes (p. ex. dioxinas), fumaça do tabaco, radiação ultravioleta e pela ação microbiana (p.ex. Malassezia sp.), podendo exercer atividade proinflamatória, proapopótica, hormonal e carcinogênica, de acordo com o fator ativador e tecido alvo. Sua ação no folículo piloso e na alopecia de padrão feminino não foi ainda estudada. Neste trabalho, os autores avaliam a apoptose, infiltrado inflamatório e expressão de receptores de hidrocarboneto arílico nos folículos pilosos de pacientes com alopecia de padrão feminino. Foi conduzido um estudo transversal envolvendo 17 mulheres com alopecia de padrão feminino e cinco controles. Avaliaram-se amostras de pele do couro cabeludo que foram processados para HE, técnica do TUNEL e imuno-histoquímica para receptor de hidrocarboneto arílico. As variáveis foram comparadas de acordo com o grupo de folículos (terminal versus miniaturizado) e os grupos de pacientes (alopecia versus controles)...

Female pattern alopecia, or female androgenetic alopecia, is the main cause of hair loss in adult women and causes major impact on patient´s quality of life. It evolves from the progressive miniaturization of follicles that lead to a subsequent decrease of the hair density, leading to a non-scarring diffuse alopecia, with characteristic clinical, dermoscopic and histological pattern. Despite the high frequency and relevance about the psychological impact, its pathogenesis is not yet fully understood, but is influenced by genetic, hormonal and environmental factors. In addition, response to treatment is incostant. In this article, authors discuss the main clinical, epidemiological and physiopathological aspects of female pattern hair loss...

Alopecia areata: aspectos imunogenéticos / Areata alopecia: immunogenetic aspects

A alopecia areata (AA) é um tipo de queda súbita de cabelos, temporária, por vezes recorrente, não cicatricial que pode afetar qualquer área portadora de pêlos; que vem sendo descrita como uma doença auto-imune. Três fatores de suscetibilidade/gravidade têm sido identificados. Alelos HLA foram os primeiros a mostrar uma forte associação com a AA e alguns alelos DQB e DR demonstraram conferir alto risco para doença em estudo de casos-controle e estudos baseados em famílias. Cluster de genes da interleucinas (IL-1), principalmente receptores antagonista da IL-1, mostrou uma forte associação com a gravidade da doença na AA e várias outras doenças inflamatórias e auto-imunes. Finalmente, a associação da AA com a síndrome de Down, a alta freqüência da síndrome poliglandular do tipo 1, devido a mutações no gene auto-imune regulador no cromossomo 21q22.3, e a associação com MX1, outro gene localizado na região da síndrome de Down do cromossomo 21. Conclui-se que existem várias hipóteses possíveis que podem elucidar a patogênese da AA e compreender a presença do infiltrado inflamatório de células imunes. Estas hipóteses podem ser classificadas em três grupos principais: 1) atividade de um terceiro fator: tal como a infecção que induziria a queda do cabelo e da resposta imune; 2) a auto-imunidade induziria à doença: o sistema imune agiria anormalmente contra um folículo capilar em funcionamento normal; 3) a doença induziria a auto-imunidade: o sistema imune agiria normalmente contra um folículo capilar que funciona anormalmente.

Alopecia de patrón femenino / Female pattern hair loss

La alopecia androgénetica femenina, o alopecia de patrón femenino, es una de las causas más frecuentes de caída de pelo. Su aparición origina importante estrés y problemas psicológicos; de ahí la importancia de un manejo adecuado. Hay casos que se asocian a hiperandrogenismo. En este trabajo revisamos las distintas formas clínicas, discutimos las pruebas de laboratorio más indicadas y los distintos tratamientos, entre ellos, la finasterida.

Female androgenetic alopecia or female pattern hair loss is one of the most frequent causes of hair loss. It can originate high stress and psychological problems, and a correct approach is therefore important. Certain cases are associated with hyperandrogenism. In this report we review the different clinical patterns, the most indicated laboratory tests and the different treatments, including finasteride.

Mutations in the vitamin D receptor gene in four patients with hereditary 1, 25-dihydroxyvitamin D-resistant rickets / Mutações no gene do receptor de vitamin D em quatro pacientes com raquitismo hereditário resistente a 1, 25-dihydroxyvitamin D

Mutations in the vitamin D receptor (VDR) are associated to the hereditary 1,25-dihydroxivitamin D-resistant rickets. The objectives of this work are: search for mutations in the VDR and analyze their functional consequences in four Brazilian children presented with rickets and alopecia. The coding region of the VDR was amplified by PCR e direct sequenced. We identified three mutations: two patients had the same mutation in exon 7 at aminoacid position 259 (p.Q259E); one patient had a mutation in exon 8 at codon 319 (p.G319V) and another one had a mutation in exon 3 leading to a truncated protein at position 73 (p.R73X). Functional studies of the mutant receptors of fibroblast primary culture, from patients' skin biopsy treated with increasing doses of 1,25(OH)2 vitamin D showed that VDR mutants were unable to be properly activated and presented a reduction in 24-hydroxylase expression level.

Mutações no receptor de vitamina D (VDR) são associadas a raquitismo hereditário resistente a 1,25-dihidroxivitamina D. Os objetivos deste trabalho foram procurar mutações no VDR e analisar suas conseqüências funcionais em quatro pacientes com raquitismo e alopécia. A região codificadora do VDR foi amplificada por PCR e seqüenciada diretamente. Identificamos três mutações: dois pacientes apresentavam a mesma mutação no éxon 7 na posição protéica 259 (p.Q259E); um paciente apresentava uma mutação no éxon 8 no códon 319 (p.G319V) e o outro apresentava uma mutação no exon 3 resultando em uma proteína truncada na posição 73 (p.R73X). O estudo funcional dos receptores mutados nos extratos de culturas de fibroblasto primárias obtidas de biópsia de pele dos pacientes, tratados com doses crescentes de 1,25(OH)2 vitamina D demonstraram que os receptores mutantes não apresentam ativação adequada apresentando expressão reduzida de 24-hidroxilase.

Omenn syndrome with mutation in RAG1 gene.

Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Inherited hypomorphic mutations in the recombination activating genes 1 and 2 (RAG1 and RAG2) and in ARTEMIS genes and more recently defects in IL7RA, and RMRP genes have been described to be responsible of this peculiar immunodeficiency. The authors report here a Moroccan patient of four-months-old with classical features of Omenn syndrome, carrying a deletion at the N terminal part of RAG1. Early recognition of this condition is important for genetic counseling and early treatment.

Dental findings in GAPO syndrome: case report

This article reports the case of a young female adult with GAPO syndrome who presented as a peculiar dental finding unerupted primary and permanent dentitions, which resembled total anodontia on clinical examination. A cephalometric analysis was performed to investigate the alterations in facial bone development. This is the 9th GAPO syndrome case reported in a Brazilian patient.

Este artigo relata o caso de um jovem paciente, gênero feminino, portadora da síndrome de GAPO, apresentando impacções dos dentes decíduos e permanentes, sugerindo anodontia total no exame clínico. Foi realizada uma análise cefalométrica para investigar as alterações no desenvolvimento ósseo facial. Este é o nono caso descrito no Brasil

Color-dilution alopecia in dogs

Color-dilution alopecia is a relatively uncommon hereditary skin disease seen in "Blue" and other color-diluted dogs. This syndrome is associated with a color-dilution gene. The initial clinical signs are the gradual onset of a dry, dull and poor hair coat quality. Hair shafts and hair regrowth are poor, and follicular papules may develop and progress to frank comedones. Hair loss and comedo formation are usually most severe on the trunk, especially color-diluted area on the skin. Six cases of color-dilution alopecia are reported in 3 months to 10 years old dogs. The breeds of dogs are blue Doberman Pinscher, Miniature Pinscher, Dachshund, and Schnauzer. Grossly, extensive partial hair loss was seen on the skin. Histopathologically, the epidermis is relatively normal but may be hyperplastic. Hair follicles are characterized by atrophy and distortion. Heavily clumped melanin is present in the epidermis, dermis and hair follicles.

Transplante capilar pelo método de micro e mini enxertos / Hair trasnplant through micro and mini method

Estudo de casos operados na Clínica de Cirurgia Plástica Curitiba, PR-Centerplast. Foram realizados 191 transplantes de cabelo pelo método de micro e mini enxertos, como tratamento de calvíce androgenética. Os resultados foram considerados satisfatórios tanto do ponto de vista médico (pela baixa incidência de complicaçöes pós-operatórias) quanto do ponto de vista estético (indetectabilidade do procedimento cirúrgico). Concluiu-se, também, que para otimizar o aspecto estético, através do aumento da densidade capilar, é necessário efetuar mais de um procedimento em cada paciente

Alopecia androgênica / Androgenic alopecia

A alopecia Androgênica (AAG) representa a queixa de um número crescente de pacientes que procuram o consultório do dermatologista, principalmente do sexo feminino. Dada a sua importância médica e/ou estética, neste trabalho säo apresentados os conceitos atuais sobre a etiologia envolvendo os fatores genéticos e hormonais, como também a correlaçäo entre a etiopatogenia, a clínica, o diagnóstico laboratorial e o tratamento com as respectivas diferenças, tanto no homem como na mulher