Xerosis cutis and associated co-factors in women with prurigo nodularis

Abstract: Background: Current data regarding the associated factors of prurigo nodularis are still uncertain, except for atopic predisposition. Objectives: The purposes of this study were to (1) determine the frequencies of xerosis and other accompanying diseases of female patients with prurigo nodularis; (2) compare the demographic, clinical and accompanying disease characteristics by grouping these patients according to whether they have associated xerosis (who were subsequently subgrouped as atopic or non-atopic) or not. Methods: In this retrospective descriptive study, 80 females with PN were categorized according to the accompanying diseases (dermatological, systemic, neurological, psychogenic, mixed, or undetermined origin). Results: A total of 45 associated co-factors including dermatological in 63 (78.8%), systemic in 57 (71.3%), psychological in 33 (41.3%) and neurological co-factors in 14 (17.5%) of all patients with prurigo nodularis were detected. Xerosis was observed in 48 (60%) patients (non-atopic co-factors in 66.7% of them). The ratio of patients with mixed co-factors, dermatological+systemic co-factors and dermatological+systemic+psychological co-factors were found to be significantly higher in patients with xerosis compared to those without xerosis. Study limitations: Our study has certain limitations such as the absence of an age-matched control group, absence of follow-up data and the fact that the diagnosis of xerosis has not been based on objective methods. Conclusions: Xerosis has been identified in more than half of the patients with PN and it has been determined that in most patients xerosis is associated especially with diabetes mellitus and other conditions related to prurigo nodularis.

Ictiosis sindrómicas / Syndromic ichthyosis

Las ictiosis hereditarias son un grupo de desórdenes mendelianos, con manifestaciones clínicas y alteraciones genéticas heterogéneas caracterizadas por la presencia de escamas y/o hiperqueratosis. Las ictiosis sindrómicas son aquellas en las que el defecto genético se manifiesta en la piel y también en otros órganos. Presentamos 7 pacientes con ictiosis sindrómicas: un síndrome IFAP (ictiosis folicular, atriquia, fotofobia), un síndrome de Conradi-Hünermann-Happle (CHH), dos síndromes de Netherton (SN), dos síndromes de Sjögren-Larsson (SSL) y un síndrome KID (queratitis, ictiosis, sordera). Se analizan las características clínicas y diagnósticas de nuestros pacientes (AU)

Inherited ichthyosis are a group of clinical and genetic heterogeneous disorders characterized by the presence of scales, hyperkeratosis or both. In syndromic ichthyosis, the genetic defect involves the skin and other organs. We present 7 patients with syndromic ichthyosis: a case of IFAP syndrome (ichthyosis follicularis with alopecia and photophobia), a case of Conradi-Hünermann-Happle (CHH) syndrome, two cases of Netherton syndrome, two cases of Sjögren-Larsson syndrome and a case of KID syndrome (keratitis, ichthyosis and deafness). We analyze the diagnostic and clinical features of our patients (AU)

Epidermolytic Hyperkeratosis - case report

Abstract: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities.

Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report / Sindrome de Vohwinkel, variante ictiosiforme - de Camisa - Relato de caso

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.

Ichthyosis associated with widespread tinea corporis: report of three cases / Ictiose associada a dermatofitose disseminada: relato de tres casos

Ichthyoses are a common group of keratinization disorders. A non-inflammatory generalized persistent skin desquamation is observed. It is characterized by increased cell turnover, thickening of the stratum corneum and functional changes of sebaceous and sweat glands. All of these favor fungal proliferation. Dermatophytes may infect skin, hair and nails causing ringworm or tinea. They have the ability to obtain nutrients from keratinized material. One of its most prevalent genera is Trichophyton rubrum. Although tineas and ichthyoses are quite common, the association of the two entities is rarely reported in the literature. Three cases of ichthyosis associated with widespread infection by T. rubrum are presented. Resistance to several antifungal treatments was responsible for worsening of ichthyosis signs and symptoms.

Ictioses são distúrbios da queratinização que se expressam com descamação cutânea generalizada persistente não inflamatória. Os pacientes que apresentam essa doença possuem aumentada renovação celular, maior espessura da camada córnea e alterações funcionais de glândulas sebáceas e sudoríparas, aspectos que parecem favorecer a infecção por dermatófitos. Dermatofitoses são infecções causadas por fungos ceratinofílicos, que acometem pele, pelos e unhas. Um dos gêneros mais prevalentes é o Trichophyton rubrum. Apesar das infecções fúngicas por dermatófitos e os quadros clínicos de ictiose serem muito comuns, são raros em literatura os relatos de associações dessas duas entidades. Apresentamos os relatos de três casos de ictiose associada a dermatofitose por T. rubrum. A ausência de resposta aos antifúngicos leva à piora clínica da ictiose.

Você conhece esta síndrome? / Do you know this syndrome?

A síndrome de KID é uma displasia ectodérmica congênita rara que afeta a pele, o epitélio da córnea e o ouvido interno. Clinicamente, observam-se placas de eritroqueratodermia na face e pregas, geralmente presentes desde o nascimento, a surdez neurossensorial severa e bilateral, e a vascularização córnea associado à queratite de evolução progressiva à qual surge após as alterações cutâneas e auditivas na puberdade. Face ao quadro surdez, às infecções cutâneas, ao risco de cegueira e à degeneração maligna, o diagnóstico precoce da síndrome é fundamental, bem como o seguimento clínico periódico e o aconselhamento genético.

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia affecting skin, the corneal epithelium and inner ear. Clinical signs consist of erythrokeratodermal plaques on the face and skin folds, usually present from birth, as well as severe and bilateral sensorineural hearing loss and corneal vascularization associated with slow-progressing keratitis which follows skin and hearing changes at puberty. In view of symptoms of deafness, blindness, skin infections and the risk of malignant degeneration, early diagnosis of the syndrome is essential, together with clinical follow-up and genetic counseling.

Você conhece esta síndrome? / Do you know this syndrome?

A síndrome KLICK é uma genodermatose rara, autossômica recessiva, caracterizada pela associação de queratodermia palmo-plantar difusa e transgressiva, com esclerodactilia, placas hiperqueratóticas lineares localizadas preferencialmente em flexuras e ictiose congênita. Não há alterações em fâneros ou mucosas, assim como sintomas sistêmicos associados. O tratamento consiste no uso de queratolíticos tópicos e retinóides orais.

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare autosomal recessive skin disorder characterized by the association of diffuse, transgressive palmoplantar keratoderma with sclerodactyly, linear hyperkeratotic plaques generally located in flexures, and congenital ichthyosis. The patient is physically and mentally healthy and has no history of any problems related to teeth, nails, hair or mucous membranes. Treatment is based on the use of topical keratolytics and oral retinoids.

Você conhece esta síndrome? / Do you know this syndrome?

A Síndrome de Huntchinson-Gilford (Progeria) é uma rara doença autossômica dominante, caracterizada pelo envelhecimento precoce. Relata-se caso de uma criança, que aos 6 meses iniciou alopecia na região occipital e placas esclerodermiformes no abdome. Esta síndrome apresenta alterações em vários órgãos e sistemas como a pele, esquelético e sistema cardiovascular. O diagnóstico é clínico e não possui tratamento, porém seu reconhecimento é necessário para minimizar a aterosclerose precoce através do controle da dislipidemia.

Huntchinson-Gilford Syndrome (Progeria) is a rare autosomal dominant disease characterized by premature aging. It is reported the case of child whose alopecia started at the age of 6 months on the occipital region. The child also presented scleroderma plaques on the abdomen. This syndrome presents alterations in many organs and systems such as the skin and the skeletal and cardiovascular systems. The diagnosis is clinical and there is no treatment for it but recognition is necessary to minimize early atherosclerosis through the control of dyslipidemia.

Ictiosis y embarazo: a propósito de un caso / Icthyosis and pregnancy: a purpose of a case

La ictiosis son afecciones dermatológicas, caracterizada por piel descamativa, por anormal queratinización, acompañada de eritrodermia, lesiones erosivas y piel acartonada. Su frecuencia es 1/200000 pacientes. Se presenta caso de paciente de 26 años, primigesta, con gestación de cronología imprecisa por FUM y 25 semanas por ecografía, quien consulta por ARO, presentando eritrodermia y queratodermia generalizada. A las 38 semanas de gestación por ecografía, inicia trabajo de parto, presentando desaceleraciones variables por distocia funicular, realizándosele cesárea de emergencia, extrayendo RN vivo, sano, sin afección dermatológica. Se hace notar q0ue la ictiosis no afecta el desarrollo fetal ni agrava la condición materna.

Progressive symmetric exfoliative ichthyosis

We report an 11-year-old girl with well defined ichthyosiform patches on extremities. There is a history of similar condition in her cousin. We believe that this case represent a new autosomal recessive disorder of cornification that may be better refer to it as "progressive symmetric exfoliative ichthyosis"

Sjögren-Larsson syndrome: an appraised of the litterature and presentation of two cases

A Síndrome de Sjögren-Larsson é uma doença autossômica recessiva rara com distribuiçäo universal. Consiste em ictiose, displegia espástica e retardo mental causado por um defeito enzimático na oxidaçäo do álcool-graxo. Nós relatamos dois casos e fazemos uma revisäo da literatura respectiva. As duas crianças tinham atividade deficiente da NAD oxidorredutase. Foram estudados os lípides de membrana das células plasmáticas e eritrócitos. Bons resultados foram obtidos em um dos pacientes quando submetido a dieta na infância precoce o que se correlacionou com diminuiçäo do álcool-graxo no plasma. Entretanto näo obtivemos melhora clínica no outro paciente cujo tratamento teve início tardio.Terapia com etretinato foi necessária para controlar os sintomas cutâneos neste segundo paciente.

Ictiosis Congenita: Presentacion Clinico-Patologica de 4 casos / Congenital ichthyosis: clinical and patological presentation of 4 cases

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

Collodion baby: the out-come of long-term follow-up.

About 10 Thai collodion babies were treated at the Department of Pediatrics, Faculty of Medicine, Chulalongkorn University from 1970 to 1990. Most of them were premature and small for gestational age infants. The sex incidence of males to female was 3:2. Only half of the cases had a family history of ichthyosis. The severity of thickness and tightness of the collodion membranes varied from mild to severe. The clinical and histopathologic findings revealed 5 cases of lamellar ichthyosis (50%), of which one case had episodes of pustular psoriasis. One case evolved to be ichthyosis vulgaris 10 per cent, one case had palmoplantar hyperkeratosis (10%), one case had been apparently normal up to 18 years old, one died of respiratory infection and another case was lost from follow-up. All cases of lamellar ichthyosis were associated with mental retardation with some degree of slow physical development. One severe collodion baby suffered from congenital absence of distal phalanges of toes with increased thickness of the finger nails.

Ictiosis congénita grave: a propósito de un caso / Congenital ichthyosis grave: a propos of a case

Se presenta un caso de ictiosis congénita grave o "feto arlequín", destacando los aspectos anatomopatológicos que lo caracterizan, o sea un grado muy severo de sequedad y descamación generalizada de la piel, heredada con carácter recesivo autosómico

Envelhecimento cutâneo: introduçäo / Skin aging: introduction

A pele é um orgäo importante para as funçöes vitais e para o psiquismo do indivíduo cuja aparência tem preocupado o homem desde a antigüidade levando a práticas cosméticas que exploram a vaidade e "vendem mais esperança do que probabilidade". Os aspectos estéticos desfavoráveis acentuam-se com o envelhecimento cujo estudo tem por isto mesmo merecido intensas investigaçöes. Várias teorias tentam explicar o envelhecimento todavia até hoje sem sucesso definitivo. O envelhecimento se observa em todos os tecidos e órgäos em certo sincronismo mas sem total paralelismo. Com finalidade didática o envelhecimento cutâneo é assim classificado: I- envelhecimento intrínseco compreendendo: a) envelhecimento cronológico; b) envelhecimento patológico e, II- envelhecimento extrínseco (devido a fatores externos, como por exemplo o sol, que aceleram os aspectos e processos do envelhecimento intrínseco)

Bebes collodions: [a propos de 7 cas]

The study of cases of collodion baby previously published led to several conclusions-In the short-term, the child is threatened by pulmonary infections The increased skin permeability may result in the loss of water or intoxication of substance applied to the skin In the long-term the condition progresses to one of congenital disturbances in keratinisation simple or complex -The absence of parallelisme between initial intensity and the distant future imposes an extended supervision