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1.
Indian J Dermatol Venereol Leprol ; 85(4): 374-379, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30971534

RESUMO

Background: Leukotrichia has been considered a predictor of poor outcome in vitiligo. However, studies considering the different clinical aspects of leukotrichia in vitiligo patients are few. Aim: Our aim was to conduct a detailed clinical study to provide insights into the relevance and associations of leukotrichia in non-segmental vitiligo. Methods: In this cross-sectional study, vitiligo patients attending the dermatology outpatient clinic and phototherapy unit at Cairo University Hospital over a period of 6 months (April-September 2016) were included. Family history, clinical details, the Vitiligo Global Issues Consensus Conference classification, the Dermatology Life Quality Index, Vitiligo Area and Severity Index, Vitiligo Extent Score, Vitiligo Disease Activity Score and Vellus Score were determined and these measurements were correlated to leukotrichia. Results: Out of the 101 patients studied, leukotrichia was found in 47 (46.5%) patients, with vellus hair involved in 37 (78.7%), terminal hairs in 30 (63.8%) and both in 20 (42.5%) patients. Vellus hair involvement was significantly higher in generalized bilaterally symmetrical vitiligo than in acrofacial or unclassified vitiligo. The incidence of scalp leukotrichia also was higher in generalized symmetrical vitiligo than in acrofacial vitiligo. The Vellus Score showed significant associations with Vitiligo Area and Severity Index, Vitiligo Extent Score and the Dermatology Life Quality Index. Limitations: This was a short-term study with a small sample size. Prognostic and therapeutic correlations were not studied; prospective longitudinal studies are needed for further evaluation. Conclusion: Leukotrichia was found in almost half of the studied sample and its frequency varied among the different types of vitiligo.


Assuntos
Cor de Cabelo , Doenças do Cabelo/fisiopatologia , Cabelo/fisiopatologia , Vitiligo/fisiopatologia , Adulto , Estudos Transversais , Extremidades , Face , Feminino , Doenças do Cabelo/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Couro Cabeludo , Índice de Gravidade de Doença , Inquéritos e Questionários , Vitiligo/complicações , Adulto Jovem
3.
J. optom. (Internet) ; 11(4): 211-222, oct.-dic. 2018. ilus, tab, graf
Artigo em Inglês | IBECS | ID: ibc-178500

RESUMO

The primary role of eyelashes is to protect and maintain the health of the lid margin. However, the mechanisms to fulfill this role are not fully understood. Unraveling these mechanisms will stand to greatly improve the efficiency of eye care professionals’ interventions in anomalies of the eyelashes. The aim of this article is to provide a review on eyelashes including highlights and new avenues for research; the biology of both the lash and its follicle; the pathophysiology and management of lash anomalies by eye care professionals; and the effect of iatrogenic factors on lashes. Using the database of Ovid MEDLINE, we reviewed studies specifically directed on human/mammalian eyelashes and key articles on current trends in scalp hair methodologies that can be applicable to lash research. The eyelash morphology, pigmentation and growth rate have been documented using techniques ranging from lash imaging to follicle immunohistochemistry. Furthermore, studies have demonstrated that the lash follicle is sensitive to many factors of the external environment, a variety of systemic/topical medications and cosmetics. Recently, aerodynamic studies using a mammalian eye model confirmed that an optimal lash length was needed so that eyelashes serve a protective role in reducing the number of particles that can reach the eye. Despite recent advances in lash research, studies are still scarce, due to the limited availability of the human lid for sampling. This review brings awareness that further research is needed with respect to eyelashes and will hopefully reduce the gap with scalp hair research


La función principal de las pestañas es proteger y mantener la salud del margen palpebral. Sin embargo, los mecanismos de desempeño de esta función no se comprenden plenamente. Desentrañar estos mecanismos ayudará a mejorar la eficiencia de las intervenciones de los profesionales de cuidados oculares en cuanto a las anomalías de las pestañas. El objetivo de este artículo es aportar una revisión sobre las pestañas, incluyendo los aspectos más destacados y las nuevas aportaciones para la investigación, la biología de la pestaña y su folículo, la patofisiología y tratamiento de las anomalías de las pestañas por parte de los profesionales de cuidados oculares, y el efecto de los factores iatrogénicos sobre las pestañas. Utilizando la base de datos de Ovid MEDLINE, revisamos los estudios específicamente dirigidos a las pestañas humanas/de mamíferos, así como los artículos clave sobre las tendencias actuales en cuanto a las metodologías del cuero cabelludo, que pueden aplicarse a la investigación sobre las pestañas. Se han documentado la morfología de las pestañas, así como su pigmentación y tasa de crecimiento, utilizando técnicas que oscilan entre la imagen de las pestañas y la inmunohistoquímica del folículo. Además, los estudios han demostrado que el folículo de la pestaña es sensible a diversos factores del entorno externo, diversas medicaciones sistémicas/tópicas y cosméticos. Recientemente, los estudios aerodinámicos que han utilizando un modelo de ojo de mamífero, han confirmado que se precisaba una longitud de pestañas óptima para que éstas ejercieran su función protectora a la hora de reducir el número de partículas que pueden acceder al ojo. A pesar de los avances recientes de la investigación sobre las pestañas, los estudios son aún escasos, debido a la disponibilidad limitada de párpado humano para muestreo. Esta revisión sirve de concienciación acerca de la necesidad de investigación futura con respecto a las pestañas, que reducirá presumiblemente la brecha existente con respecto a la investigación sobre el cuero cabelludo


Assuntos
Humanos , Pestanas/anatomia & histologia , Pestanas/fisiologia , Doenças Palpebrais/fisiopatologia , Doenças do Cabelo/fisiopatologia , Folículo Piloso/anatomia & histologia , Folículo Piloso/fisiologia , Envelhecimento/fisiologia , Doença Iatrogênica
4.
J Optom ; 11(4): 211-222, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30017866

RESUMO

The primary role of eyelashes is to protect and maintain the health of the lid margin. However, the mechanisms to fulfill this role are not fully understood. Unraveling these mechanisms will stand to greatly improve the efficiency of eye care professionals' interventions in anomalies of the eyelashes. The aim of this article is to provide a review on eyelashes including highlights and new avenues for research; the biology of both the lash and its follicle; the pathophysiology and management of lash anomalies by eye care professionals; and the effect of iatrogenic factors on lashes. Using the database of Ovid MEDLINE, we reviewed studies specifically directed on human/mammalian eyelashes and key articles on current trends in scalp hair methodologies that can be applicable to lash research. The eyelash morphology, pigmentation and growth rate have been documented using techniques ranging from lash imaging to follicle immunohistochemistry. Furthermore, studies have demonstrated that the lash follicle is sensitive to many factors of the external environment, a variety of systemic/topical medications and cosmetics. Recently, aerodynamic studies using a mammalian eye model confirmed that an optimal lash length was needed so that eyelashes serve a protective role in reducing the number of particles that can reach the eye. Despite recent advances in lash research, studies are still scarce, due to the limited availability of the human lid for sampling. This review brings awareness that further research is needed with respect to eyelashes and will hopefully reduce the gap with scalp hair research.


Assuntos
Pestanas , Doenças Palpebrais/fisiopatologia , Doenças do Cabelo/fisiopatologia , Folículo Piloso , Envelhecimento/fisiologia , Pestanas/anatomia & histologia , Pestanas/fisiologia , Folículo Piloso/anatomia & histologia , Folículo Piloso/fisiologia , Humanos , Doença Iatrogênica
6.
Orphanet J Rare Dis ; 13(1): 74, 2018 05 10.
Artigo em Inglês | MEDLINE | ID: mdl-29747658

RESUMO

Naxos disease, first described by Dr. Nikos Protonotarios and colleagues on the island of Naxos, Greece, is a special form of arrhythmogenic right ventricular dysplasia (ARVD). It is an inherited condition with a recessive form of transmission and a familial penetrance of 90%. It is associated with thickening of the skin of the hands and sole, and a propensity to woolly hair. The cardiac anomalies characterized by ventricular arrhythmias with ventricular extrasystoles and tachycardia and histologic features of the myocardium are consistent with ARVD, but in a more severe form of dysplasia with major dilatation of the right ventricle. The identification of the responsible first gene on chromosome 17, and its product plakoglobin as the responsible protein for Naxos disease proved to be a milestone in the study of ARVD, which opened a new field of research. Thanks to those with the determination to discover Naxos disease, there is and will be more clarity in understanding the mechanisms of juvenile sudden death in the young who have an apparently otherwise normal heart.


Assuntos
Displasia Arritmogênica Ventricular Direita/fisiopatologia , Doenças do Cabelo/fisiopatologia , Ceratodermia Palmar e Plantar/fisiopatologia , Animais , Displasia Arritmogênica Ventricular Direita/genética , Displasia Arritmogênica Ventricular Direita/mortalidade , Displasia Arritmogênica Ventricular Direita/patologia , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 17/metabolismo , Morte Súbita , Doenças do Cabelo/genética , Doenças do Cabelo/mortalidade , Doenças do Cabelo/patologia , Humanos , Ceratodermia Palmar e Plantar/genética , Ceratodermia Palmar e Plantar/mortalidade , Ceratodermia Palmar e Plantar/patologia , gama Catenina/genética , gama Catenina/metabolismo
8.
Acta Derm Venereol ; 98(3): 318-323, 2018 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-29136266

RESUMO

Prostanoids, including prostaglandins (PGs) and thromboxane A2 (TXA2), are a family of lipid-derived autacoids that modulate many physiological systems and pathological contexts. Prostanoids are generated by sequential metabolism of arachidonic acid, catalysed by cyclo-oxygenase, to PGH2, which is then converted to PGD2, PGE2, PGF2α, PGI2 and TXA2, catalysed by their specific synthases. Recent evidence suggests that prostanoids play a role in regulating hair growth. The PGF2α analogue is Food and Drug Administration-approved in the US and routinely used to enhance the growth of human eyelashes. PGE2 is reported to protect from radiation-induced hair loss in mice. Conversely, PGD2 inhibits hair growth. This paper reviews the metabolism of prostanoids and the expression pattern of prostanoid receptors in hair follicles, focussing on their different and opposing effects on hair growth and the underlying mechanisms. This has potential clinical relevance in the treatment and prevention of hair disorders.


Assuntos
Doenças do Cabelo/metabolismo , Folículo Piloso/metabolismo , Prostaglandinas/metabolismo , Regeneração , Animais , Doenças do Cabelo/tratamento farmacológico , Doenças do Cabelo/fisiopatologia , Folículo Piloso/efeitos dos fármacos , Folículo Piloso/crescimento & desenvolvimento , Humanos , Receptores de Prostaglandina/metabolismo , Regeneração/efeitos dos fármacos , Transdução de Sinais
9.
Am J Med Genet A ; 173(11): 3114-3117, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28940926

RESUMO

CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Anormalidades do Olho/genética , Doenças Palpebrais/genética , Doenças do Cabelo/genética , Joelho/anormalidades , Transtornos do Desenvolvimento da Linguagem/genética , Unhas Malformadas/genética , Proteínas Serina-Treonina Quinases/genética , Sindactilia/genética , Pré-Escolar , Fenda Labial/diagnóstico , Fenda Labial/fisiopatologia , Fissura Palatina/diagnóstico , Fissura Palatina/fisiopatologia , Consanguinidade , Exoma/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/fisiopatologia , Doenças Palpebrais/diagnóstico , Doenças Palpebrais/fisiopatologia , Feminino , Feto , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/fisiopatologia , Homozigoto , Humanos , Recém-Nascido , Joelho/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino , Mutação , Unhas Malformadas/diagnóstico , Unhas Malformadas/fisiopatologia , Sindactilia/diagnóstico , Sindactilia/fisiopatologia
10.
Exp Dermatol ; 26(6): 472-477, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28266743

RESUMO

The hair follicle is a mini-organ endowed with a unique structure and cyclic behaviour. Despite the intense research efforts which have been devoted at deciphering the hair follicle biology over the past 70 years, one must admit that hair follicle remains an enigma. In this brief review, various aspects of hair follicle biology will be addressed, and more importantly, unsolved questions and new possible research tracks will be highlighted, including hair follicle glycobiology and exosome-mediated cell-cell interactions. Even though bricks of knowledge are solidly being acquired, an integrative picture remains to emerge. One can predict that computer science, algorithms and bioinformatics will assist in fostering our understanding hair biology.


Assuntos
Doenças do Cabelo/genética , Doenças do Cabelo/fisiopatologia , Folículo Piloso/fisiopatologia , Cabelo/fisiologia , Algoritmos , Alopecia/fisiopatologia , Animais , Comunicação Celular , Biologia Computacional , Exossomos/metabolismo , Estudo de Associação Genômica Ampla , Glicômica , Humanos , Lipídeos/química , Camundongos , Modelos Biológicos , Pesquisa Médica Translacional
11.
Am J Med Genet A ; 173(5): 1348-1352, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28322498

RESUMO

Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more severe complex III deficiency and GRACILE syndrome. We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L. A thorough clinical evaluation did not reveal any features consistent with complex III deficiency or GRACILE syndrome.


Assuntos
Complexo III da Cadeia de Transporte de Elétrons/genética , Doenças do Cabelo/genética , Perda Auditiva Neurossensorial/genética , Doenças Mitocondriais/congênito , ATPases Associadas a Diversas Atividades Celulares , Feminino , Doenças do Cabelo/patologia , Doenças do Cabelo/fisiopatologia , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Masculino , Doenças Mitocondriais/genética , Doenças Mitocondriais/fisiopatologia , Mutação de Sentido Incorreto , Linhagem , Irmãos
13.
Rev Bras Reumatol Engl Ed ; 56(1): 86-9, 2016.
Artigo em Inglês, Português | MEDLINE | ID: mdl-27267340

RESUMO

The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints.


Assuntos
Artralgia/etiologia , Proteínas de Ligação a DNA/genética , Dedos/anormalidades , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/genética , Síndrome de Langer-Giedion/diagnóstico , Síndrome de Langer-Giedion/genética , Nariz/anormalidades , Fatores de Transcrição/genética , Adolescente , Artralgia/genética , Falanges dos Dedos da Mão/anormalidades , Dedos/fisiopatologia , Doenças do Cabelo/fisiopatologia , Humanos , Síndrome de Langer-Giedion/fisiopatologia , Masculino , Nariz/fisiopatologia , Síndrome
14.
Am J Med Genet A ; 170(7): 1820-5, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-27133561

RESUMO

In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single female child, and a single male individual were described with the same features, and the eponym Fitzsimmons syndrome was adopted (OMIM #270710). We performed exome analysis of the patient described in 2009, and one of the original twins from 1987, the only patients available from the literature. No single genetic etiology exists that explains Fitzsimmons syndrome; however, multiple different genetic causes were identified. Specifically, the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1 (TRPS1 type 1) which includes brachydactyly as a feature. A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features with no genetic cause identified for his spasticity or brachydactyly. The findings show that these individuals have multiple different etiologies giving rise to a similar phenotype, and that "Fitzsimmons syndrome" is in fact not one single syndrome. Over time, we anticipate that continued careful phenotyping with concomitant genome-wide analysis will continue to identify the causes of many rare syndromes, but it will also highlight that previously delineated clinical entities are, in fact, not syndromes at all. © 2016 Wiley Periodicals, Inc.


Assuntos
Braquidactilia/genética , Proteínas de Ligação a DNA/genética , Disartria/genética , Proteínas de Choque Térmico/genética , Espasticidade Muscular/genética , Proteínas Nucleares/genética , Receptores Citoplasmáticos e Nucleares/genética , Proteínas Repressoras/genética , Paraplegia Espástica Hereditária/genética , Ataxias Espinocerebelares/congênito , Fatores de Transcrição/genética , Braquidactilia/diagnóstico , Braquidactilia/fisiopatologia , Criança , Disartria/diagnóstico , Disartria/fisiopatologia , Exoma/genética , Feminino , Dedos/anormalidades , Dedos/fisiopatologia , Doenças do Cabelo/genética , Doenças do Cabelo/fisiopatologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Síndrome de Langer-Giedion/genética , Síndrome de Langer-Giedion/fisiopatologia , Masculino , Espasticidade Muscular/diagnóstico , Espasticidade Muscular/fisiopatologia , Nariz/anormalidades , Nariz/fisiopatologia , Paraplegia Espástica Hereditária/diagnóstico , Paraplegia Espástica Hereditária/fisiopatologia , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/fisiopatologia
15.
Gene ; 586(1): 1-6, 2016 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-27050310

RESUMO

Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder that is classically associated with intractable diarrhea with an onset within the first few months of life. Herein, we investigated and reported novel mutations in two causal genes in 3 Malaysian cases. Genomic DNA was extracted from peripheral blood obtained from patients in two Malaysian Chinese families. The exons of SKIV2L and TTC37 genes were amplified and sequenced by bi-directional sequencing to identify the point mutations within the coding sequence. Three Chinese boys from two families with characteristic features and clinical course were diagnosed with THES. In family-1, two point mutations were identified in the SKIV2L gene (c.1891G>A and c.3187C>T). In family-2, a single-nucleotide duplication (c.3426dupA) was found in the TTC37 gene. These mutations cause the production of abnormal non-functional gene product leading to the clinical manifestations in the patients. We reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 genes, including one nonsense, one frameshift, and one missense mutations.


Assuntos
Proteínas de Transporte/genética , DNA Helicases/genética , Diarreia Infantil/genética , Retardo do Crescimento Fetal/genética , Doenças do Cabelo/genética , Grupo com Ancestrais do Continente Asiático/genética , Códon sem Sentido , Diarreia Infantil/patologia , Diarreia Infantil/fisiopatologia , Éxons , Facies , Retardo do Crescimento Fetal/patologia , Retardo do Crescimento Fetal/fisiopatologia , Mutação da Fase de Leitura , Doenças do Cabelo/patologia , Doenças do Cabelo/fisiopatologia , Humanos , Masculino , Mutação de Sentido Incorreto , Linhagem
17.
Rev. bras. reumatol ; 56(1): 86-89, jan.-fev. 2016. graf
Artigo em Inglês | LILACS | ID: lil-775212

RESUMO

Resumo A síndrome tricorrinofalangiana (STRF) tipo I é uma doença genética rara, relacionada com a mutação no gene TRPS1 do cromossomo 8. É caracterizada por anomalias craniofaciais e distúrbios na formação e maturação da matriz óssea. As características são cabelos ralos e quebradiços, tendência à calvície prematura, nariz bulboso em formato de pera, filtro nasal longo e plano e baixa implantação das orelhas. As alterações esqueléticas mais notáveis são a clinodactilia, as epífises das falanges das mãos em forma de cone, a baixa estatura e as malformações na articulação do quadril. Relata-se o caso de um adolescente diagnosticado com STRF e encaminhado para avaliação reumatológica em decorrência de queixas articulares.


Abstract The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints.


Assuntos
Humanos , Masculino , Adolescente , Fatores de Transcrição/genética , Síndrome de Langer-Giedion/diagnóstico , Síndrome de Langer-Giedion/genética , Nariz/anormalidades , Artralgia/etiologia , Proteínas de Ligação a DNA/genética , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/genética , Síndrome , Síndrome de Langer-Giedion/fisiopatologia , Nariz/fisiopatologia , Artralgia/genética , Falanges dos Dedos da Mão/anormalidades , Dedos/anormalidades , Dedos/fisiopatologia , Doenças do Cabelo/fisiopatologia
18.
Dermatol Online J ; 22(9)2016 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-28329610

RESUMO

Woolly hair may occur as an isolated problem of cosmetic concern or can be a part of a systemic disease (woolly hair syndrome) with underlying fatal cardiomyopathy. Two characteristic associations of woolly hair syndrome are Naxos disease and Carvajal syndrome. Naxos disease is characterized by woolly hair, palmoplantar keratoderma, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of Naxos disease in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing congestive heart failure.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Doenças do Cabelo/diagnóstico , Ceratodermia Palmar e Plantar/diagnóstico , Disfunção Ventricular Esquerda/diagnóstico , Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Displasia Arritmogênica Ventricular Direita/patologia , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Pré-Escolar , Ecocardiografia , Eletrocardiografia , Feminino , Doenças do Cabelo/diagnóstico por imagem , Doenças do Cabelo/patologia , Doenças do Cabelo/fisiopatologia , Humanos , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Ceratodermia Palmar e Plantar/patologia , Ceratodermia Palmar e Plantar/fisiopatologia , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/fisiopatologia
20.
An Bras Dermatol ; 90(3 Suppl 1): 29-31, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26312667

RESUMO

Pili torti also known as 'twisted hairs' (Latin: pili=hair; torti=twisted) is a rare, congenital or acquired clinical presentation, in which the hair shaft is flattened at irregular intervals and twisted 180º along its axis. It is clinically characterized by fragile, brittle, coarse and lusterless hairs, due to uneven light reflection on the twisted hair surface. Pili torti may be associated with neurological abnormalities and ectodermal dysplasias. There is no specific treatment for this condition, but it may improve spontaneously after puberty. We report a case of pili torti in a child who presented fragile, brittle, difficult to comb hair. The patient had no comorbidities.


Assuntos
Doenças do Cabelo/patologia , Criança , Feminino , Cabelo/patologia , Doenças do Cabelo/fisiopatologia , Humanos , Microscopia de Polarização , Doenças do Sistema Nervoso/fisiopatologia
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