Non-invasive methods for evaluation of skin manifestations in patients with ichthyosis.

Hereditary ichthyoses include a group of diseases characterized by hyperkeratosis, scaling, generalized xerosis, and is frequently associated with erythroderma. They are classified as syndromic and non-syndromic entities. The monitoring of the severity of ichthyosis requires different strategies for immediate analysis, which can comprise visual analogue scales or non-invasive quantitative methods, which collect information on disease progression that may contribute to the management of ichthyosis and aid in delineating clinical trials. In this article, we present a comprehensive review of the existing visual analogue scales, their validation, and their use in studies of disease severity and clinical trials. Interestingly, after many years of study, to date there is not a unanimously accepted tool for assessing the harshness of clinical features. Therefore, we discuss the perspectives of some non-invasive quantitative methods and strategies employed in clinical studies performed in patients with ichthyosis. Advances in these methods provide a rationale of their potential application in the evaluation of ichthyosis severity. Our purpose is to show an overview of non-invasive methodologies for the study of the harshness of ichthyosis.

Pharmacological treatments for cutaneous manifestations of inherited ichthyoses.

Inherited ichthyoses are a group of etiologically heterogeneous diseases that affect the function of the skin and that are classified as syndromic and non-syndromic entities. Irrespective of the type, all these disorders are generally produced by mutations in genes involved in a variety of cellular functions in the skin. These mutations lead to disruption of the stratum corneum and impairment of the skin barrier, producing clinical features such as hyperkeratosis, skin scaling, erythema, fissures, pruritus, inflammation, and skin pain. Despite advances in the knowledge of the pathogenesis of ichthyoses, there is, to our knowledge, no definitive cure for skin manifestations, and current treatments consist of moisturizers, emollients, and keratolytic agents. In this respect, the development of new formulations based on nanotechnology could be useful to enhance their therapeutic effectiveness. In this article, we provide a comprehensive description of pharmacological treatments for cutaneous manifestations in patients with inherited ichthyosis and discuss novel approaches with therapeutic potential for this purpose. Moreover, we offer an overview of toxicity concerns related to these treatments.

Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.

Mutations in Cx26 gene are found in most cases of human genetic deafness. Some mutations produce syndromic deafness associated with skin disorders, like the Keratitis-Ichthyosis-Deafness syndrome (KID). Because in the human skin connexin 26 (Cx26) is co-expressed with other connexins, like Cx43 and Cx30, and as the KID syndrome is inherited as autosomal dominant condition, it is possible that KID mutations change the way Cx26 interacts with other co-expressed connexins. Indeed, some Cx26 syndromic mutations showed gap junction dominant negative effect when co-expressed with wild-type connexins, including Cx26 and Cx43. The nature of these interactions and the consequences on hemichannels and gap junction channel (GJC) functions remain unknown. In this study, we demonstrate that syndromic mutations, at the N terminus segment of Cx26, change connexin oligomerization compatibility, allowing aberrant interactions with Cx43. Strikingly, heteromeric oligomer formed by Cx43/Cx26 (syndromic mutants) shows exacerbated hemichannel activity but nonfunctional GJCs; this also occurs for those Cx26 KID mutants that do not show functional homomeric hemichannels. Heterologous expression of these hyperactive heteromeric hemichannels increases cell membrane permeability, favoring ATP release and Ca(2+) overload. The functional paradox produced by oligomerization of Cx43 and Cx26 KID mutants could underlie the severe syndromic phenotype in human skin.

Importância do uso de plantas medicinais nos processos de xerose, fissuras e cicatrização na diabetes mellitus / The importance of the use of medicinal plants in the process of xerosis, fissures and healing

RESUMO Artigo de revisão que trata da importância do tratamento da xerose e de fissuras nos pés de pacientes com diabetes mellitus. Essas fissuras se não tratadas, constituem porta de entrada para infecções e podem resultar na formação de úlceras, que são a causa mais comum das amputações de extremidades de causa não traumática. Por isso a prevenção de fissuras nos pés de diabéticos é fundamental, já que a cicatrização é um processo complicado nesses pacientes, devido à hiperglicemia. Aborda sobre produtos usados no tratamento de xerose e fissuras e o crescente interesse de pesquisadores e do mercado no uso de fitoterápicos com esse objetivo.

ABSTRACT A review article that deals with the importance of treating xerosis and fissures in the feet of patients with diabetes mellitus. These wounds can be a gateway to infections and may result in the formation of ulcers, if untreated. The ulcers are the most common cause for the amputations of extremities at non-traumatic cases. For this reason, the prevention of fissures in the feet of diabetic patientsis basal, since healing is a complicated process in this patients because of their hyperglycemia symptom. This article addresses the products employed in the therapy of xerosis and fissures, and also investigates the increasing interest of researchers and market in the application of phytotherapic medicines for this purpose.

Associação de ictiose adquirida, linfoma de Hodgkin e Hepatite B / Combination of acquired ichthyosis, Hodgkin’s lymphoma and Hepatitis B

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.

Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure.

OBJECTIVE: Because an impaired epidermal permeability barrier is present in many of the ichthyoses, we examined the contribution of barrier failure to caloric requirements in children with ichthyosis and growth failure. STUDY DESIGN: Transepidermal water loss (TEWL) and ultrastructural parameters of the permeability barrier were evaluated in 10 hospitalized children with ichthyosis and growth failure. Nutritional intake, resting energy expenditure, and calories lost as heat of evaporation were determined. RESULTS: Mean basal TEWL rates were markedly elevated in all study patients in comparison to the expected upper limit of normal (39.6+/-20.6 vs 8.7 mL/m(2) per hour). The severity of abnormalities in the ultrastructure of permeability barrier-related structures, assessed semiquantitatively, correlated significantly to mean basal TEWL rates (P <.001). Total body daily TEWL was elevated (746 +/- 468 vs 209 mL/d), resulting in a caloric drain of 433 +/- 272 kcal/d (21 +/- 9.8 kcal/kg per day) through heat of evaporation. Nutrient intake exceeded requirements in all, but resting energy expenditure exceeded predicted in 5 of 6 patients and correlated significantly with mean basal TEWL rates (P <.005). CONCLUSIONS: A defective permeability barrier in children with ichthyosis can result in ample chronic losses of water and calories to impair growth.

Asociación de Albinismo oculocutáneo-ictiosis / Oculocutaneous albinism and ichthyosis association

Objetivo. Describir el caso de una adolescente femenina de 18 años de edad, la cual presentaba dos genodermatosis: albinismo oculocutáneo e ictiosis vulgar. Caso clínico. La paciente mostró retardo en el desarrollo neurológico durante su infancia. No se encontraron antecendentes de padecimiento similar en otros miembros de la familia. El diagnóstico de albinismo e ictiosis fue confirmado por el estudio de fondo de ojo y el histopatológico. El iris de la paciente era translúcido y presentaba hipopigmentación de fondo de ojo; histopatológicamente con hiperqueratosis moderada sin paraqueratosis, con formación de grandes tapones queratósicos, sin presencia de acantosis. Conclusión. El presente caso corresponde clínica e histopatológicamente a albinismo oculotáneo con ictiosis vulgar, sin antecedentes de padecimiento similar en otros miembros de la familia

Xerosis. Pérdida de la función de la piel como barrera / Xerosis. Loss of the barrier function of the skin

La piel no es una envoltura inerte. Con una extensión promedio de 1.82 m², es un órgano anatómico y funcionalmente complejo, el cual es un marcador importante de salud. De las múltiples funciones de la piel, la de ser barrera es una de las más destacables. Gracias a estos se evitan diversas alteraciones. La función de barrera puede ser modificada por factores individuales (sexo, edad), internos (sustancias hidroscópicas, proteínas fibrosas, pérdida transepidérmica de agua) y externos (humedad relativa, temperatura ambiental). Uno de los signos más importantes cuando hay alteraciones en esta función de barrera es la xerosis o "piel seca". Se revisan algunos aspectos de la unidad proliferativa epidérmica que condicionan el desarrollo de xerosis

Complicaciones neurológicas del síndrome de nevo epidérmico: presentación de un caso / Neurological complications of epidermal nevus syndrome

Introducción. El síndrome de nevo epidérmico se caracteriza por presentarse concomitantemente con alteraciones en otros sistemas, en particular sistema nervioso central por lo que es considerado como uno de los síndromes neurocutáneos. Caso clínico. Se presenta el caso de paciente femenino de 3 meses de edad con manifestaciones de síndrome de nevo epidérmico y neurológicas caracterizadas por crisis epilépticas parciales motoras de hemicuerpo izquierdo, secundariamente generalizadas, retardo en el desarrollo psicomotor, asociado con alteraciones sistémicas diversas como quiste dérmico parietal derecho, poliotia izquierda, entropión derecho, microcórnea, opacidad bilateral del cristalino, paladar hendido, hernia umbilidal e inguinal izquierda, cursó en la etapa de recién nacido con quilotórax y colestasis hepática, presentando al nacimiento dermatosis en hemicuerpo derecho de características verrugosas e hiperpigmentadas. Conclusión. El caso es de interés por su variedad de manifestaciones clínicas, asociado con paladar hendido y quilotórax no reportado en la literatura revisada. Podría tratarse de otro síndrome o ser una variante poco común, meritoria de ofrecer consejo genético a pesar de ser de presentación esporádica

Feto arlequin

La ictiosis constituye un grupo de enfermedades caracterizadas por descamacion superficial cutanea excesiva. El feto arlequin es la forma mas grave de ictiosis congenita, caracterizada por piel dura, gruesa, profundas grietas transversales y verticales que simulan la piel del cocodrilo. Presentamos un caso de feto Arlequin y se revisa la literatura y consideramos que es el primer caso que se describe en la literatura nacional.

Síndrome de Netherton estudo de dois casos / Netherton syndrome: a two-case study

Sao apresentados dois casos de Síndrome de Netherton, afecçao nao registrada, até hoje, na literatura brasileira, 20 e 21 casos de literatura mundial. É feito confronto com os casos publicados, desde 1958 até 1971, revendo-se casos referidos em 14 publicaçoes. Os casos relatados sao irmaos de sexos diferentes, nos quais, sao estudados os seguintes aspectos: clínico, laboratoriais de rotina, exames micológicos direto e cultura, histopatológico de pele do tronco e couro cabeludo, microscopia dos cabelos, desenvolvimento somático e psíquico, exame neurológico, pesquisa alergológica, determinaçao da amino-acidúria e amino-acidemia e estudo genético