Ictiosis Lamelar autosómica recesiva: revisión de la literatura y caso clínico / Autosomal recessive lamellar ichthyosis: review of the literature and clinical case

Resumen Las ictiosis congénitas autosómicas recesivas (ICAR) son poco frecuentes a nivel mundial con una incidencia de 1:300,000 nacimientos, se caracterizan por trastornos de la queratinización, entre sus variantes engloban las formas no sindrómicas de ictiosis, como la ictiosis laminar (IL), la eritrodermiaictiosiforme congénita (EIC) y actualmente se incluyen la ictiosis arlequín, el bebé colodión autorresolutivo, el bebé colodión autorresolutivoacral y la ictiosis en traje de baño. Desde el punto de vista genético son heterogéneas, originadas por una mutación en el gen de la transglutaminasa 1 y se las haasociado a TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 y ABCA12. Clínicamente, la ictiosis se caracteriza principalmente por piel gruesa, escamas laminares adherentes con hendiduras profundas. En este trabajo pretende revisar los conocimientos actuales en el campo de las ICAR, incluyendo aspectos clínicos, histológicos, ultraestructurales, genético-moleculares, tratamiento,y también su manejo clínico.

Abstract The autosomal recessive congenital ichthyosis (ARCI) is a rare worldwide condition with an incidence of (1: 300,000 births), characterized by disorders of keratinization, among its variants encompass the non-syndromic forms of ichthyosis, such as laminar ichthyosis (IL) , congenital ichthyosiform erythroderma (EIC) and currently include harlequin ichthyosis, self-healing colodion baby, acral self-healing colodion baby and ichthyosis in swimsuits. From a genetic point of view, they're heterogeneous, originated by a mutation in the gene of transglutaminase 1 and associated with TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 and ABCA12. Clinically, ichthyosis is mainly characterized by thick skin, adherent lamellar scales with deep clefts. The aim of this work is to review the current knowledge in the field of ICAR, including clinical, histological, ultrastructural, genetic-molecular and therapeutic aspects as well as its clinical management.

Enfermedades acantolíticas: caracterización de pacientes con diagnóstico de enfermedad de Hailey-Hailey, enfermedad de Darier y enfermedad de Grover, entre los años 2007 y 2017 en el Hospital Clínico San Borja Arriaran y revisión de la literatura / Characterization of patients diagnosed with Hailey-Hailey disease: Darier's disease and Grover's disease, between 2007 and 2017 at the San Borja Arriaran Clinical Hospital and review of the literature

INTRODUCCIÓN: Las enfermedades acatólicas son un grupo heterogéneo de enfermedades que presentan como característica central histopatológica la acantosis. Generalmente presentan un curso de evolución crónica y recidivante, con variadas manifestaciones clínicas. OBJETIVO: caracterizar los pacientes con diagnóstico de enfermedad acantolítica, bajo 5 criterios clínicos y realizar una revisión de la literatura. MÉTODOS: Se realizó una revisión de la base de datos del Servicio Anatomía Patológica del Hospital San Borja Arriaran (HSBA) entre los años 2007 y 2017 y se complementaron con los antecedentes clínicos extraídos de las fichas clínicas.RESULTADOS: Se obtuvo un total de 13 casos. el 53,8% correspondieron a enfermedad de Darier, 20,6% a enfermedad de Hailey-Hailey y un 20,6% a enfermedad de Grover, obteniendo un promedio de edad al momento del diagnóstico de 22,5 años, 44,3 años y 47,6 años respectivamente. Los antecedentes familiares estuvieron presentes en el 53,8% del total de pacientes, ninguno de ellos presentaba estudio genético. El 61,5% de la muestra correspondió a pacientes de sexo femenino y el promedio de años de evolución previo al diagnóstico fue de 7,4 años para Darier, 8,6 para Hailey-Hailey y para Grover. El 100% de los pacientes con enfermedad de Darier y Grover estaban con terapia sistémica y el 66,6% de enfermedad de Hailey-Hailey con terapia tópica, todos con adecuada respuesta clínica. DISCUSIÓN y conclusiones: las enfermedades acantolíticas corresponden a genodermatosis poco frecuente cuyo diagnóstico y tratamiento constitu-yen un desafío para el dermatólogo

INTRODUCTION: Atytolic diseases are a heterogeneous group of diseases that present acanthosis as a histopathological central characteristic. They usually present a course of chronic and recurrent evolution, with varied clinical manifestations. OBJECTIVE: to characterize the patients diagnosed with acantholytic disease, with 5 clinical criteria and to carry out a review of the literature. METHODS: A review of the database of the Pathological Anatomy Service of the San Bor-ja Arriaran Hospital (HSBA) between 2007 and 2017 was carried out and complemented with the clinical records extracted from the clinical files. RESULTS: A total of 13 cases were obtained. 53.8% corresponded to Darier's disease, 20.6% to Hailey-Hailey's disease and 20.6% to Grover's disease, obtaining an average age at diagnosis of 22.5 years, 44.3 years and 47.6 years respectively. Family history was present in 53.8% of the to-tal patients, none of them had a genetic study. 61.5% of the sample corresponded to female patients and the average of years of evolution prior to diagnosis was 7.4 years for Darier, 8.6 for Hailey-Hailey and for Grover. 100% of the pa-tients with Darier and Grover's disease were on systemic therapy and 66.6% of Hailey-Hailey's disease with topical therapy, all with adequate clinical response. DISCUSSION AND CONCLUSIONS: acantholytic diseases correspond to rare genodermatosis whose diagnosis and treatment constitute a challenge for the dermatologist.

Increased melanocytic nevi in patients with inherited ichthyoses: report of a previously undescribed association.

Ichthyosis is a heterogeneous cornification disorder. Melanocytic lesions have not been previously described in association with ichthyosis. Their clinical importance lies in the fact that they may simulate melanoma clinically and dermoscopically, as seen in epidermolysis bullosa. The objective of this study was to evaluate the clinical, dermoscopic, and histopathologic features of nevi and lentigines in 16 patients with autosomal recessive congenital ichthyosis-lamellar ichthyosis and nonbullous ichthyosiform congenital erythroderma. Patients underwent general clinical examination dermoscopy. The more suspicious lesions were excised and to histopathologic examination. Most patients (n = 13) reported no personal or familial history of melanoma or atypical nevi. All of the patients had at least five atypical melanocytic lesions. Ten of the 16 patients had at least one atypical nevus or lentigo. This study suggests that increased atypical melanocytic nevi may be a feature of long-standing congenital ichthyoses. Whether this finding is disease-related or a coincidental observation is difficult to ascertain. As an unequivocal discrimination from malignant melanoma in vivo is not always possible, regular clinical follow-up of patients with ichthyosis and increased or unusual nevi is recommended.

[Surgical team satisfaction levels between two preoperative hand-washing methods]. / Niveles de satisfacción del equipo quiúirgico entre dos métodos de lavado de mano.

INTRODUCTION: Recently, there have been new antiseptics for surgical scrub that do not require brushing. One of them contains 1% chlorhexidine gluconate and 61% ethyl alcohol; within its benefits, it may offer a low potential for skin sensitization, as well as cost savings and less use of water. OBJECTIVES: To evaluate satisfaction levels, washing time, safety, cost and amount of water between the traditional surgical scrub technique (group A) and brush-free surgical scrub procedure (group B). MATERIAL AND METHODS: One hundred clean and clean-contaminated surgeries with four hundred members of surgical teams were included. Satisfaction levels, hand-washing time, skin disorders and problems associated with placement of gloves were evaluated. Hands cultures were taken in 20% of the population and the amount of water used by patients in group A was measured. Total costs and wound infections were analyzed. RESULTS: Satisfaction scale in group A was 9.1 +/- 1.39 and 9.5 +/- 1.54 in group B (p = 0.004). The mean hand-washing time was 3.9 +/- 1.07 min in group A and 2.0 +/- 0.47 min in group B (p = 0.00001). Thirteen patients had dry skin in group A and four in group B (6.5% vs. 2%; p = 0.02). There were ten positives cultures in group A and five in group B (25% vs. 12.5%, p = 0.152). Wound infection rate was 3%. On average, five-hundred eighty liters of water were used by the former group, and the estimated hand-washing cost was lower in the second group. CONCLUSIONS: The handwashing technique with CGEA is as effective as traditional surgical scrub technique, and it is associated with less washing time, dry skin, cost and use of water.

Dermatoses among Brazilian HIV-positive patients: correlation with the evolutionary phases of AIDS.

BACKGROUND: The presence of dermatoses is very common in Acquired Human Immunodeficiency Syndrome (AIDS). The present study was undertaken to correlate the various dermatoses with the evolutionary phases of AIDS. METHODS: We examined 223 HIV-infected patients older than 13 seen at the University of São Paulo, Faculty of Medicine of Ribeirão Preto, from 1989 to 1993. Patients were divided according to the CDC classification and assigned to groups I, II and III (initial stages of AIDS) and to group IV (fully symptomatic stage of AIDS). RESULTS: The mean frequency of dermatoses detected in patients with AIDS was higher compared to the early phases of HIV infection. The most frequently detected dermatoses were, in decreasing order of occurrence, dermatoses of fungal etiology, and desquamating disorders, such as psoriasis, seborrheic dermatitis, xerosis, and viral dermatoses. CONCLUSIONS: A careful examination of skin and mucosae may be highly useful for the diagnosis of HIV infection. The number of dermatoses tended to increase during the more advanced stages of infection.

PIP: The frequency of dermatologic disorders--a common symptom in HIV-infected men and women--was investigated in 223 HIV-positive patients at various stages of disease recruited from the University of Sao Paulo, Faculty of Medicine, in Ribeirao Preto, Brazil, in 1989-93. Of these 223 patients, 152 had full-blown AIDS and the remaining 71 were asymptomatic. A total of 488 dermatoses were diagnosed. The mean number of diagnoses was 2.45 in AIDS patients and 1.61 in the asymptomatic groups. Seborrheic dermatitis, more extensive and of more abrupt onset than that observed in the general population, was the most frequent disorder, affecting 24% of patients in the initial stages of HIV and 30.3% of those with AIDS. The prevalence of viral dermatoses--primarily herpes simplex--was equivalent in both AIDS and asymptomatic patients (14.5% and 14.8%, respectively). Disorders of bacterial etiology--primarily impetigo, ecthyma, and sexually transmitted diseases--were more common in asymptomatic (16.5%) than AIDS patients (3.8%), while fungal dermatoses--predominantly oral moniliasis and tineas--were more frequent in AIDS patients (32.4%) than asymptomatic patients (22.6%). These findings suggest that careful examination of skin and mucosa may be useful for the diagnosis of HIV infection.

[Acquired ichthyosis caused by bladder neoplasia. Presentation of the 1st case in Cuba]. / Ictiosis adquirida por neoplasia vesical. Presentación del primer caso en Cuba.

Ichthyosiform dermatoses comprise a heterogeneous group of cutaneous disease characterized by keratin disorder that clinically manifests as dry, rough and scaly skin. The acquired form of ichthyosis has principally been associated with neoplastic disease. It has also been described in association with other disorders and as drug-induced cutaneous manifestations. We report on a patient with a bladder tumor who developed acquired ichthyosis, a complication and presenting feature of the underlying neoplastic condition. The clinical manifestations and associated conditions are described. To our knowledge, this is the first case of acquired ichthyosis from a bladder tumor reported in Cuba.