RESUMO
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.
Assuntos
Humanos , Equipe de Assistência ao Paciente/organização & administração , Ictiose/genética , Ictiose/diagnóstico , Ictiose/terapia , Terminologia como AssuntoRESUMO
Collodion baby is a term used to describe a phenotype characterized by the presence of a tight, translucent membrane that covers the entire skin at birth. This membrane usually sheds around 10 to 14 days and reveals the underlying disease (mainly different types of Recessive Ichthyosis or other infrequent disorders). A rare variant of this phenotype is known as acral self-healing collodion baby whereby the patients are born with the typical membrane but limited to the hands and feet only, and after it sheds, the skin appears completely normal. We report five cases of this very rare subtype of collodion baby. All the patient cases that are presented involved both hands and feet. One of the patients also had the umbilicus embedded in a subtle collodion membrane. None of the patients had a family history of the same entity or any other type of ichthyosis. In all patients, the condition resolved spontaneously within a few weeks and no patients developed any other manifestation. Although no molecular analysis was performed, we contribute to the knowledge of the clinical features of this extremely uncommon and benign entity, since to the best of our knowledge there are only two previous reports available in literature.
RESUMO
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.
Assuntos
Ictiose/genética , Equipe de Assistência ao Paciente/organização & administração , Humanos , Ictiose/diagnóstico , Ictiose/terapia , Terminologia como AssuntoRESUMO
Introducción: El bebé colodión es una ictiosis neonatal muy poco frecuente. La piel apergaminada, amarilla y dura que recubre el cuerpo resulta ser una barrera ineficaz, que predispone a la deshidratación, pérdida de calor e infecciones. El mejor manejo de estos pacientes ha permitido aumentar su supervivencia, pero su comorbi-lidad requiere de un seguimiento estricto y cauteloso. Objetivo: Describir un caso de enterocolitis fulminante desarrollada en un bebé colodión, con el fin de ayudar a la identificación más precoz de esta patología. Caso clínico: Recién nacido de 34 semanas, con membrana colodión, que ingresa en la unidad de cuidados intensivo con dificultad respiratoria severa. Se mantiene en una incubadora con humedad, aplicando emolientes y lubricación cutánea y oftalmológica. Se inició tratamiento antibiótico de amplio espectro. El quinto día de vida, comenzó con intolerancia a la alimentación, desarrollándose una enterocolitis fulminante que le ocasionó el fallecimiento. Conclusiones: La asociación con enterocolitis necrosante en un bebé colodión no ha sido descrita en la literatura, por lo que, ocasiona una demora diagnóstica y esto contribuye a una evolución fulminante que puede ocasionar la muerte. El tener presente esta infrecuente comorbilidad podrá favorecer su pesquisa para el manejo oportuno.
Introduction: Collodion baby is a rare neonatal ichthyosis. The leathery, hard and yellow skin that covers the body is an ineffective barrier that predisposes to dehydration, heat loss and infections. A better management of these patients has been shown to increase survival, but the comorbidity requires strict and cautious monitoring. Objective: To describe a case of fulminant enterocolitis in a collodion infant in order to help to identify early this pathology. Case report: A 34-week newborn with collodion membrane was admitted to the intensive care unit with severe respiratory distress. The baby was maintained in an incubator with humidity, applying emollients and skin and eye lubrication. Broad-spectrum antibiotic treatment was initiated. The patient presented feeding intolerance on the fifth day of life, developing a fulminant enterocolitis resulting in death. Conclusion: The necrotizing enterocolitis associated with a collodion baby has not been described in the literature, causing a delay in diagnosis and contributing to a fulminant course that can lead to death. Keeping in mind this rare comorbidity may facilitate a timely management.
Assuntos
Humanos , Feminino , Recém-Nascido , Enterocolite Necrosante/complicações , Enterocolite Necrosante/diagnóstico , Eritrodermia Ictiosiforme Congênita/complicações , Desidratação , Enterocolite Necrosante/terapia , Evolução FatalRESUMO
Introducción. La ictiosis es una entidad clínica poco frecuente a nivel mundial (1:300,000 nacimientos). Sus formas clínicas en el neonato son bebé colodión y su manifestación más severa, feto arlequín o queratoma maligno. Clínicamente, la ictiosis se caracteriza principalmente por piel gruesa, dura y con hendiduras profundas. Las fisuras más prominentes se localizan sobre las áreas de flexión. Además, se observa ectropión en ambos ojos, deformidades en orejas y nariz; los labios se evierten provocando la apariencia de boca de pez. Caso clínico. Se reporta el caso de un bebé colodión, que por su vulnerabilidad tegumentaria se mantuvo bajo aislamiento estricto para evitar infecciones; sin embargo, hubo necesidad de aplicar antibiótico por secreción ocular purulenta causada por Staphylococcus aureus coagulasa negativa. El paciente evolucionó aceptablemente. Conclusiones. El bebé colodión ha disminuido su mortalidad gracias al cuidado multidisciplinario, por lo que su identificación y manejo deben ser oportunos.
Background. Ichtyosis is an infrequent clinical entity worldwide (1:300 000 births). When diagnosed in a newborn, we can identify two forms: collodion baby and its most severe form, harlequin fetus or maligna keratoma. In both cases, clinical manifestations are thick and hard skin with deep splits. The splits are more prominent in flexion areas. Moreover, we can observe ectropion in both eyes and deformities in the ears and nose, as well as inverted lips that resemble the mouth of a fish, among others signs. Case report. We report a case of a collodion baby who was kept in strict isolation to avoid any infection. However, due to purulent ocular secretions due to coagulase-negative Staphylococcus aureus, antibiotic treatment was indicated. The evolution of the patient was favorable. Conclusions. Mortality of the collodion baby has decreased as a result of multidisciplinary care and opportune diagnosis and management.
RESUMO
El termino bebé colodión define una rara dermatosis del recién nacido caracterizada por una gruesa membrana que cubre la superficie corporal y acuerda al celofán, provocando alteraciones dismorficas en el neonato. En la mayoría de los casos la lesión evoluciona hacia una ictiosis lamelar ó hacia síndromes más complejos que suelen presentar una piel ictiósica como uno de sus signos. Se estudian los signos y la evolución hasta la edad escolar de una niña colodión. Los síntomas aparecieron en el momento del nacimiento, a la exploración se destacaba una membrana rígida y gruesa que cubría todo el cuerpo, ectropión y aplanamiento de las orejas y la nariz, la apertura bucal estaba restringida, la evolución fue satisfactoria hacia una forma leve de ictiosis lamelar. Se presenta el caso por tratarse de una patología infrecuente y rara en nuestro medio.
He finishes collodión baby it defines a strange dermatosis of the newly born one characterized by a thick membrane that covers the corporal surface and he/she agrees to the cellophane, causing alterations dismorfics in the neonato. In most of the cases the lesion evolves toward an lamellar ictiosis or toward more complex syndromes that usually present a ictiósic skin like one of its signs. The signs and the evolution are studied until the school age of a girl colodión. The symptoms appeared in the moment of the birth, to the exploration he/she stood out a rigid and thick membrane that covered the whole body, ectropión and leveling of the ears and the nose, the buccal opening it was restricted, the evolution was satisfactory toward a light form of ictiosis lamelar. The case is presented to be an uncommon and strange pathology in our means.