Assuntos
Doenças do Cabelo/congênito , Neoplasias de Cabeça e Pescoço/diagnóstico , Nevo/diagnóstico , Neoplasias Cutâneas/diagnóstico , Pré-Escolar , Doenças do Cabelo/diagnóstico , Neoplasias de Cabeça e Pescoço/congênito , Humanos , Masculino , Nevo/congênito , Couro Cabeludo/anormalidades , Neoplasias Cutâneas/congênitoAssuntos
Cardiomiopatias/genética , Desmoplaquinas/genética , Doenças do Cabelo/congênito , Ceratodermia Palmar e Plantar/genética , Mutação , Doenças Assintomáticas , Cardiomiopatias/diagnóstico , Cardiomiopatias/terapia , Cardiomiopatia Dilatada , Fármacos Cardiovasculares/uso terapêutico , Pré-Escolar , Desfibriladores Implantáveis , Cardioversão Elétrica/instrumentação , Feminino , Predisposição Genética para Doença , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/genética , Doenças do Cabelo/terapia , Hereditariedade , Heterozigoto , Humanos , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/terapia , Linhagem , Fenótipo , Resultado do TratamentoAssuntos
Cor de Cabelo/genética , Doenças do Cabelo/genética , Transtornos da Pigmentação/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Biópsia , Criança , Análise Mutacional de DNA , Doenças do Cabelo/congênito , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/patologia , Humanos , Masculino , Mosaicismo , Mutação , Transtornos da Pigmentação/congênito , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/patologia , Couro Cabeludo , Pele/patologiaAssuntos
Desmoplaquinas/genética , Doenças do Cabelo/congênito , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/genética , Criança , Feminino , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/genética , Doenças do Cabelo/patologia , Homozigoto , Humanos , Índia , Masculino , Mutação , Dermatopatias Genéticas/patologia , Adulto JovemAssuntos
Desmina/metabolismo , Desmoplaquinas/metabolismo , Queratinas/metabolismo , Animais , Cardiomiopatias/genética , Linhagem Celular Tumoral , Desmoplaquinas/genética , Epiderme/metabolismo , Células HEK293 , Doenças do Cabelo/congênito , Doenças do Cabelo/genética , Humanos , Camundongos , Camundongos Knockout , Ligação Proteica/genética , Domínios Proteicos/genética , Dobramento de Proteína , Dermatopatias Genéticas/genéticaAssuntos
Doenças do Cabelo/congênito , Hipotricose/genética , Queratinas Específicas do Cabelo/genética , Queratinas Tipo I/genética , Adulto , Motivos de Aminoácidos/genética , Feminino , Doenças do Cabelo/genética , Humanos , Masculino , Mutação de Sentido Incorreto , Linhagem , Sequenciamento do ExomaRESUMO
PURPOSE: To describe a new technique to treat congenital distichiasis. METHODS: Case series of three distichiatic patients undergoing a novel surgical technique combining splitting of the lid margin with the distichiatic lashes, marginal tarsectomy in the affected area, and tarsoconjunctival graft obtained from the upper region of the tarsus. The graft was sutured at the exposed region of the marginal tarsectomy. RESULTS: Good cosmesis was obtained in all cases and the lids margins healed completely with good surgical outcome and no lashes contacted the cornea postoperatively. CONCLUSIONS: The split lamellae with a composite tarsoconjunctival graft results in satisfactory functional and cosmetic outcomes. The upper tarsal region represents an ideal donor site.
Assuntos
Anormalidades do Olho/cirurgia , Pestanas/anormalidades , Doenças Palpebrais/cirurgia , Doenças do Cabelo/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Criança , Pré-Escolar , Doenças Palpebrais/congênito , Feminino , Doenças do Cabelo/congênito , Humanos , Masculino , Técnicas de SuturaRESUMO
BACKGROUND: Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Isolated or localized wooly hair is usually benign and is not related to other disorders and/or complications. On the contrary, the generalized type may be related to disorders and syndromes affecting heart, cutis, liver and gastrointestinal organs. Among the syndromes presenting with wooly hair, the most known are the Naxos syndrome, the Carvajal-Huerta syndrome, the wooly hair/hypotrichosis, the ectodermal dysplasia-skin fragility, the tricho-hepato-enteric syndrome. CASE PRESENTATION: To our knowledge, no cases of wooly hair syndromes has been associated to neurologic involvement. Among the clinical notes of patients admitted in the Pediatric Units of the Catania University, we have selected four individuals presenting wooly hair, who showed different clinical features and course: case 1 presenting with a localized wooly hair type; case 2, member of a family affected by WH with autosomal dominant inheritance, not associated to complications; case 3, a wooly hair patient who displayed a progressive, severe form of Rasmussen's encephalitis with fatal evolution, and case 4, wooly hair associated to brain malformation and drug-resistant epilepsy. CONCLUSIONS: With this report, we aim to underline the wide spectrum of clinical presentation of individuals with WH and in particular we wish to give an annotation on a possible association of WH with severe neurologic disorders.
Assuntos
Cardiomiopatias/diagnóstico , Encefalite/diagnóstico , Predisposição Genética para Doença , Doenças do Cabelo/congênito , Ceratodermia Palmar e Plantar/diagnóstico , Cardiomiopatias/genética , Cardiomiopatia Dilatada , Criança , Pré-Escolar , Encefalite/genética , Feminino , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/genética , Humanos , Lactente , Itália/epidemiologia , Ceratodermia Palmar e Plantar/genética , Masculino , Monitorização Fisiológica/métodos , Prognóstico , Doenças Raras , Medição de Risco , Estudos de Amostragem , Índice de Gravidade de Doença , SíndromeRESUMO
Cutaneous lymphadenoma is an uncommon benign neoplasm often considered to be an adamantinoid variant of trichoblastoma. Lesions present in both sexes, between 14 and 87 years of age, and are mainly located on the head and neck. Cases in children are rare and there is only 1 previous case of a congenital lymphadenoma. An 8-year-old Asian girl presented with a congenital lesion on her forehead comprising 4 pink papules, the largest 5 mm in diameter. Microscopy revealed a well-circumscribed tumor within the dermis and subcutis comprising well-demarcated epithelial lobules of basaloid and clear cells with subtle peripheral palisading, growing in a collagenous stroma but lacking retraction artefact. A relatively dense accompanying predominantly lymphocytic inflammatory cell infiltrate including both T-cells (CD3+) and B-cells (CD20+) permeated the nodules and spilled into the stroma. CD68+ histiocytes and CD1a+ Langerhans cells were moderately numerous. This is the second case of congenital lymphadenoma which-in spite of its rarity in childhood-widens the diagnostic possibilities of cutaneous lymphoepithelial tumors in children.
Assuntos
Doenças do Cabelo/congênito , Doenças do Cabelo/patologia , Folículo Piloso/patologia , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/patologia , Criança , Feminino , HumanosRESUMO
X-ray images can suffer from excess contrast. Often, image exposure is chosen to visually optimize the region of interest, but at the expense of over- and underexposed regions elsewhere in the image. When image values are interpreted quantitatively as projected absorption, both over- and underexposure leads to the loss of quantitative information. We propose to combine multiple exposures into a composite that uses only pixels from those exposures in which they are neither under- nor overexposed. The composite image is created in analogy to visible-light high dynamic range photography. We present the mathematical framework for the recovery of absorbance from such composite images and demonstrate the method with biological and non-biological samples. We also show with an aluminum step-wedge that accurate recovery of step thickness from the absorbance values is possible, thereby highlighting the quantitative nature of the presented method. Due to the higher amount of detail encoded in an enhanced dynamic range x-ray image, we expect that the number of retaken images can be reduced, and patient exposure overall reduced. We also envision that the method can improve dual energy absorptiometry and even computed tomography by reducing the number of low-exposure ("photon-starved") projections.
Assuntos
Algoritmos , Doenças do Cabelo/congênito , Intensificação de Imagem Radiográfica/métodos , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Radiografia/métodos , Animais , Gatos , Doenças do Cabelo/diagnóstico por imagem , Humanos , Imagens de Fantasmas , Radiografia/instrumentação , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. The objective of this study was to review the literature regarding the prognosis and treatment options for hair shaft disorders. We used keywords in the search engines PubMed and Medline to identify all publications in English related to the prognosis and management of hair shaft disorders. Data were extracted from 96 articles that met search criteria. Findings were limited to case reports and small case series, as no studies were found. Disorders that improve in childhood include pili torti, trichorrhexis invaginata, woolly hair, and pili trianguli et canaliculi. Others, such as trichorrhexis nodosa, monilethrix, pili annulati, and pili bifurcati, improve with minoxidil. Oral retinoids have been found to improve hair abnormalities in trichorrhexis invaginata and monilethrix. There is no specific treatment for congenital hair shaft abnormalities. Gentle hair care is the mainstay of care for hair shaft disorders associated with fragility. Practices for gentle care include no brushing, backcombing, chemical products, tight braids, heat exposure, or mechanical grooming. Furthermore, any inherited or congenital disorder requires genetic counseling as part of management.
Assuntos
Doenças do Cabelo/patologia , Doenças do Cabelo/terapia , Cabelo/anormalidades , Adolescente , Criança , Pré-Escolar , Terapia Combinada , Gerenciamento Clínico , Feminino , Doenças do Cabelo/congênito , Humanos , Masculino , Prognóstico , Medição de Risco , Resultado do TratamentoRESUMO
Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. The objective was to review the literature regarding the prognosis and treatment options of hair shaft disorders. We used keywords in the search engines PubMed and Medline to identify all publications in the English language related to the prognosis and management of hair shaft disorders. Data were extracted from 96 articles that met search criteria. Findings were limited to case reports and small case series, as no studies were found. Disorders that improve in childhood include pili torti, trichorrhexis invaginata, wooly hair, and pili trianguli et canaliculi. Others, such as trichorrhexis nodosa, monilethrix, pili annulati, and pili bifurcati improve with minoxidil. Oral retinoids have improved hair abnormalities in trichorrhexis invaginata and monilethrix. There is no specific treatment for congenital hair shaft abnormalities. Gentle hair care is the mainstay of care for hair shaft disorders associated with fragility. Practices for gentle care include no brushing, backcombing, chemical products, tight braids, heat exposure, or mechanical grooming. Any inherited or congenital disorder requires genetic counseling as part of management.
Assuntos
Doenças do Cabelo/congênito , Doenças do Cabelo/terapia , Cabelo/anormalidades , Alopecia em Áreas/congênito , Alopecia em Áreas/diagnóstico , Alopecia em Áreas/epidemiologia , Alopecia em Áreas/terapia , Criança , Pré-Escolar , Terapia Combinada , Gerenciamento Clínico , Feminino , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/epidemiologia , Humanos , Incidência , Masculino , Prognóstico , Medição de RiscoAssuntos
Suplementos Nutricionais , Doenças do Cabelo/congênito , Cabelo/efeitos dos fármacos , Hidroxicolecalciferóis/administração & dosagem , Minoxidil/administração & dosagem , Tretinoína , Administração Cutânea , Administração Oral , Criança , Pré-Escolar , Quimioterapia Combinada , Feminino , Cabelo/crescimento & desenvolvimento , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/tratamento farmacológico , Doenças do Cabelo/fisiopatologia , Humanos , Resultado do TratamentoAssuntos
Predisposição Genética para Doença , Doenças do Cabelo/congênito , Malformações do Desenvolvimento Cortical/genética , Mutação , Nevo Pigmentado/genética , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Cutâneas/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Feminino , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/genética , Humanos , Imageamento por Ressonância Magnética/métodos , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Nevo Pigmentado/diagnóstico , Neoplasias Cutâneas/diagnósticoRESUMO
Recent developments in research methods and techniques, such as whole-exome and -genome sequencing, have substantially improved our understanding of genetic conditions. Special progress has been made in the field of genotrichoses, or hereditary hair diseases, a field that has been obscure for many years. The underlying genes for many of the monogenic hair diseases are now known. Additionally, complex analyses of large cohorts of patients have given us the first clues to the genes associated with polygenic hair disorders, such as androgenetic alopecia and alopecia areata. Thanks to these major findings, the sophisticated regulation of the morphogenesis, development and growth of hair follicles has begun to be revealed, and new players in this delicate molecular interplay have been exposed.
Assuntos
Alopecia/genética , Displasia Arritmogênica Ventricular Direita/genética , Cardiomiopatias/genética , Displasia Ectodérmica/genética , Doenças do Cabelo/congênito , Folículo Piloso/anormalidades , Ceratodermia Palmar e Plantar/genética , Monilétrix/genética , Dermatopatias Vesiculobolhosas/genética , Alopecia em Áreas/genética , Cardiomiopatia Dilatada , Doenças do Cabelo/genética , Humanos , Hipotricose/genética , Biologia MolecularRESUMO
Woolly hair is an uncommon condition among non-black people, which may be an isolated finding or associated with additional clinical symptoms. When woolly hair is accompanied by palmoplantar keratoderma, it may herald a deadly cardiomyopathy, and therefore this condition should alert the physician for a heart disorder. Until recently, the underlying causes for this rare phenotype were obscure, and only three genes were associated with this condition. However, in recent years, many more genes were found to underlie this disorder, uncovering new molecular pathways. Better knowledge of the different mechanisms that control the curliness of hair may offer new treatment options for this condition, and may also make it possible to affect hair texture in general.