ABSTRACT
La ictiosis epidermolítica es una genodermatosis de herencia autosómica dominante poco frecuente que requiere un diagnóstico oportuno, idealmente prenatal, para así brindar una asistencia neonatal adecuada, iniciar un tratamiento precoz y de esta manera disminuir su morbimortalidad. Se caracteriza por la formación de ampollas, múltiples erosiones y descamación con eritrodermia desde el nacimiento. Todos los tipos de ictiosis queratinopáticas son causadas por mutaciones en los genes de la familia de queratina KRT1, KRT2 y KRT10. Se presenta el caso clínico de un neonato de 9 días de vida, nacido en el interior del país, con diagnóstico de ictiosis epidermolítica y antecedente familiar de primer grado con la misma enfermedad. El interés de esta publicación radica en la descripción de una genodermatosis de baja frecuencia, reconocer la importancia del diagnóstico precoz, conocer el manejo, las complicaciones y destacar la importancia de la atención por un equipo multidisciplinario conformado por neonatólogo, dermatólogos, genetistas y pediatras.
Epidermolytic ichthyosis is a rare genodermatosis with autosomal dominant inheritance, which requires timely diagnosis, ideally prenatal diagnosis, in order to provide adequate neonatal care, start early treatment and thus reduce morbidity and mortality. It is characterized by the formation of blisters, multiple erosions and scaling with erythroderma from birth. All types of keratinopathic ichthyoses are caused by mutations in the genes of the keratin family KRT1, KRT2 and KRT10. We present the clinical case of a 9-day-old newborn from the interior of the country, with diagnosis and family history of epidermolytic ichthyosis. The interest of this publication lies in the description of a low-frequency genodermatosis, recognizing the importance of early diagnosis, understanding the management, complications and highlighting the importance of a multidisciplinary care team integrated by a neonatologist, dermatologists, geneticists and pediatricians.
A ictiose epidermolítica é uma genodermatose autossômica dominante rara que requer diagnóstico oportuno, idealmente pré-natal, para fornecer cuidados neonatais adequados, iniciar o tratamento precoce e, assim, reduzir sua morbidade e mortalidade. Caracteriza-se pela formação de bolhas, múltiplas erosões e descamação com eritrodermia desde o nascimento. Todos os tipos de ictioses queratinopáticas são causados por mutações nos genes da família da queratina KRT1, KRT2 e KRT10. É apresentado o caso clínico de um recém-nascido de 9 dias, nascido no interior do país, com diagnóstico de ictiose epidermolítica e história familiar de primeiro grau com a mesma doença. O interesse desta publicação reside na descrição de uma genodermatose de baixa frequência, reconhecendo a importância do diagnóstico precoce, conhecendo o manejo, as complicações e destacando a importância do atendimento por uma equipe multidisciplinar composta por neonatologistas, dermatologistas, geneticistas e pediatras.
Subject(s)
Humans , Infant, Newborn , Ichthyosis/diagnosis , Ichthyosis/therapy , Staphylococcal Infections/diagnosis , Staphylococcal Infections/therapy , Case Management , Rare Diseases , Ichthyosis/genetics , MutationABSTRACT
Abstract: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.
Subject(s)
Humans , Male , Child, Preschool , Abnormalities, Multiple/genetics , Hand Deformities, Congenital/genetics , Keratoderma, Palmoplantar/genetics , Hearing Loss, Sensorineural/genetics , Ichthyosis/genetics , PedigreeABSTRACT
Las ictiosis hereditarias son un grupo de trastornos genéticos de la cornificación, que se caracterizan por presentar hiperqueratosis y/o descamación. La nueva clasificación identifica 36 tipos de ictiosis, las cuales se subdividen según su frecuencia, patrón de herencia y compromiso extracutáneo. El diagnóstico se basa principalmente en las características clínicas, ya que los estudios genéticos no se encuentran disponibles en nuestro medio. El tratamiento es sintomático y su manejo debe ser realizado por un equipo multidisciplinario. En este artículo se revisan los aspectos diagnósticos y terapéuticos de los distintos tipos de ictiosis, considerando la nomenclatura y modificaciones expuestas en la nueva clasificación.
Hereditary ichthyoses are a group of genetic disorders of cornification, which are characterised by hyperkeratosis and scaling. The new classification identifies 36 types of ichthyosis, which are subdivided according to their frequency, pattern of inheritance and extracutaneous involvement. The diagnosis is mainly based on clinical features, since genetic studies are not available in our setting. Treatment is symptomatic and management should be performed by a multidisciplinary team. In this article, the diagnostic and therapeutic aspects of different types of ichthyosis are reviewed, taking into account the nomenclature and modifications presented in the new classification.
Subject(s)
Humans , Patient Care Team/organization & administration , Ichthyosis/genetics , Ichthyosis/diagnosis , Ichthyosis/therapy , Terminology as TopicABSTRACT
Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome.
A síndrome de Vohwinkel ou queratodermia hereditária mutilante é uma queratose palmo-plantar rara, autossômica dominante, que se manifesta em crianças e se torna mais evidente na vida adulta. Seu modo de herança é autossômica dominante com mutação na loricrina e no gen da Conexina 26. Os pacientes com esta mutação apresentam hiperqueratose das palmas das mãos e plantas dos pés, com bandas constritivas dos dígitos, normalmente no quinto dedo e hiperqueratose em forma de estrela do mar nas regiões dorsais das mãos e dos pés. A doença ocorre principalmente em mulheres brancas, onde as bandas constritivas fibrosas aparecerem nos dígitos e podem levar ao estrangulamento progressivo e auto-amputação (pseudo-ainhum).Os autores relatam o caso de uma variante ictiosiforme da síndrome de Vohwinkel.
Subject(s)
Female , Humans , Middle Aged , Abnormalities, Multiple/pathology , Hand Deformities, Congenital/pathology , Hearing Loss, Sensorineural/pathology , Ichthyosis/pathology , Keratoderma, Palmoplantar/pathology , Abnormalities, Multiple/genetics , Hand Deformities, Congenital/genetics , Hearing Loss, Sensorineural/genetics , Ichthyosis/genetics , Keratoderma, Palmoplantar/genetics , MutationABSTRACT
El término histológico de hiperqueratosis epidermolítica hace referencia a la presencia de hiperqueratosis, hipergranulosis y epidermolisis. Su expresión clínica es variable, e incluye a la ictiosis epidermolítica, su variedad en mosaico y la queratodermia palmoplantar epidermolítica, entre otros. Presentamos 5 casos con diagnóstico histológico de hiperqueratosis epidermolítica y diferentes cuadros clínicos de presentación. Casos clínicos. Dos casos presentaron la variedad en mosaico con aspecto de nevo verrugoso que sigue las líneas de Blaschko, uno con manifestación unilateral y el otro bilateral; un tercer paciente presentó queratodermia palmoplantar y los dos pacientes restantes, las variedades generalizadas: uno de ellos con eritrodermia y ampollas en etapa neonatal y el otro en el estadio hiperqueratósico. Conclusión. La hiperqueratosis epidermolítica representa un patrón histopatológico que se expresa con variadas formas clínicas, lo cual repercute en la calidad de vida de los pacientes y hace necesario el asesoramiento genético.
Subject(s)
Humans , Child , Hyperkeratosis, Epidermolytic/genetics , Hyperkeratosis, Epidermolytic/pathology , Ichthyosis/classification , Ichthyosis/genetics , Skin/pathology , Keratoderma, Palmoplantar/genetics , Keratoderma, Palmoplantar/pathologyABSTRACT
Ictiose adquirida é um distúrbio raro da queratinização, associado a diversas doenças, como neoplasias. Aqui relatamos o caso de uma paciente que se apresentou com ictiose de início recente e no decorrer da investigação foi descoberta hepatite B crônica e linfoma de Hodgkin. Não encontramos relatos da associação destas três entidades na literatura.
Acquired Ichthyosis is a rare disorder of keratinization associated with several diseases such as neoplasias. Here we report the case a patient presenting with ichthyosis of recent onset, and along the investigation chronic hepatitis B and Hodgkin lymphoma were diagnosed. No previous report of the combination of these three entities was found in the literature.
Subject(s)
Humans , Adult , Hodgkin Disease/complications , Hodgkin Disease/diagnosis , Hodgkin Disease/pathology , Hepatitis B, Chronic/complications , Hepatitis B, Chronic/diagnosis , Ichthyosis/complications , Ichthyosis/diagnosis , Ichthyosis/physiopathology , Ichthyosis/genetics , Neoplasms , KeratinsABSTRACT
A case of ichthiosis bullosa of Siemens is described in a twenty-five years old Sudanese female. Review of this condition concerning genetics, molecular biology, histopathology and clinical picture is added
Subject(s)
Humans , Female , Keratins , Ichthyosis/diagnosis , Ichthyosis/geneticsABSTRACT
A specialized tissue type, the keratinizing epithelium, protects terrestrial mammals from water loss and noxious physical, chemical and mechanical insults. This barrier between the body and the environment is constantly maintained by reproduction of inner living epidermal keratinocytes which undergo a process of terminal differentiation and then migrate to the surface as interlocking layers of dead stratum corneum cells. These cells provide the bulwark of mechanical and chemical protection, and together with their intercellular lipid surroundings, confer water-impermeability. Much of this barrier function is provided by the cornified cell envelope (CE), an extremely tough protein/lipid polymer structure formed just below the cytoplasmic membrane and subsequently resides on the exterior of the dead cornified cells. It consists of two parts: a protein envelope and a lipid envelope. The protein envelope is thought to contribute to the biomechanical properties of the CE as a result of cross-linking of specialized CE structural proteins by both disulfide bonds and N(epsilon)-(gamma-glutamyl)lysine isopeptide bonds formed by transglutaminases. Some of the structural proteins involved include involucrin, loricrin, small proline rich proteins, keratin intermediate filaments, elafin, cystatin A, and desmosomal proteins. The lipid envelope is located on the exterior of and covalently attached by ester bonds to the protein envelope and consists of a monomolecular layer of omega-hydroxyceramides. These not only serve of provide a Teflon-like coating to the cell, but also interdigitate with the intercellular lipid lamellae perhaps in a Velcro-like fashion. In fact the CE is a common feature of all stratified squamous epithelia, although its precise composition, structure and barrier function requirements vary widely between epithelia. Recent work has shown that a number of diseases which display defective epidermal barrier function, generically known as ichthyoses, are the result of genetic defects of the synthesis of either CE proteins, the transglutaminase 1 cross-linking enzyme, or defective metabolism of skin lipids.
Subject(s)
Humans , Animals , Cell Membrane/metabolism , Epidermis/metabolism , Epidermis/chemistry , Ichthyosis/metabolism , Ichthyosis/genetics , Keratinocytes/metabolism , Keratinocytes/chemistry , Membrane Lipids/metabolism , Membrane Proteins/metabolism , Transglutaminases/metabolismABSTRACT
Relato de caso de uma paciente de 45 anos, a qual apresenta desde a infância descamaçäo assintomática difusa de todo o tegumento, formando nitidamente colaretes. As lesöes näo sofrem variaçöes sazonais. No exame histológico foi encontrada epiderme de aspecto normal, com separaçäo da camada córnea acima da camada granulosa. Seus genitores säo primo-irmaos e mais três casos semelhantes säo conhecidos na sua família. A síndrome da pele descamativa pertence ao grupo das ictioses, tendo provável herança autossômica recessiva, devendo ser diferenciada das formas clássicas de ictiose
Subject(s)
Humans , Female , Middle Aged , Skin Diseases, Genetic/diagnosis , Ichthyosis/classification , Ichthyosis/genetics , SyndromeABSTRACT
Se presentan las caracteristicas clinicas, histologicas y el estudio genetico de 4 casos de ictiosis. Se clasificaron clinicamente como sigue: ictiosis laminar; 2 casos, con patron de herencia autosomica recesiva; ictiosis Hystrix: 1 caso, con patron de herencia autosomica dominante; ictiosis ligada al X; 1 caso con patron de herencia recesiva. El estudio microscopico demostro en uno de los casos de ictiosis laminar, hiperqueratosis, con disminucion de la capa granulosa en algunas zonas y ausencias de esta en otras; en el otro caso la lesion es de aspecto psoriasiforme con hiperqueratosis, paraqueratosis y microabcesos de Munro; en la ictiosis Hystrix se observo una hiperqueratosis epidermilitica y la ictiosis ligada al X mostro una hiperqueratosis con capa granulosa normal
Subject(s)
Male , Female , Infant , Child, Preschool , Ichthyosiform Erythroderma, Congenital , Ichthyosis/genetics , Ichthyosis/pathologyABSTRACT
Se presenta un caso de Eritrodermia Ictiosiforme Congénita ampollar en una niña de 8 años con antecedentes de la misma alteración en su madre y hermano. Fue tratada con etretinato a las dosis habituales presentando mejoría del 80%de sus lesiones. Se realiza una revisión bibliográfica y actualización de la clasificación sobre los desórdenes de la cornificación, así como las experiencias previas en el uso de los retinoides en esta patología