[Cases of circumscribed palmar or plantar hypokeratosis]. / Hipoqueratosis palmar o plantar circunscrita: aportación de dos nuevos casos.

Circumscribed palmar or plantar hypokeratosis (CPH) is a depressed, well-delimited, erythematous lesion usually found in the thenar and hypothenar regions of the palms or the soles, predominately in women. It was first described by Pérez et al. in 2002 as a benign entity of unknown origin. Histologically, the depressed area corresponds to a thinning of the stratum corneum. It is a well-demarcated lesion with a sharp stair in the stratum corneum between normal and involved skin and the affected corneocytes are more eosinophilic than normal. We present two new cases of CPH, both occurring in females and in the hand, one of which was located in the thenar region and the other in the finger. We discuss the histopathological and dermatoscopical findings.

Hipoqueratosis palmar o plantar circunscrita: aportación de dos nuevos casos / Cases of circumscribed palmar or plantar hypokeratosis

La hipoqueratosis circunscrita palmar o plantar (HCP) es una lesión deprimida bien delimitada, eritematosa, de localización más frecuente en las regiones tenar e hipotenar de palmas y plantas, que afecta predominantemente a mujeres. Fue descrita por Pérez et al. en 2002 como una nueva entidad benigna de etiología desconocida. Histológicamente el área deprimida corresponde a un adelgazamiento del espesor de la capa córnea. El límite entre capa córnea normal y adelgazada tiene forma de escalera raída y los corneocitos son más eosinofílicos que los normales adyacentes. Presentamos dos nuevos casos de HCP en mujeres, localizados uno en la región tenar y el otro en un dedo de la mano, con los hallazgos histológicos y dermatoscópicos.(AU)

Circumscribed palmar or plantar hypokeratosis (CPH) is a depressed, well-delimited, erythematous lesion usually found in the thenar and hypothenar regions of the palms or the soles, predominately in women. It was first described by Pérez et al. in 2002 as a benign entity of unknown origin. Histologically, the depressed area corresponds to a thinning of the stratum corneum. It is a well-demarcated lesion with a sharp stair in the stratum corneum between normal and involved skin and the affected corneocytes are more eosinophilic than normal. We present two new cases of CPH, both occurring in females and in the hand, one of which was located in the thenar region and the other in the finger. We discuss the histopathological and dermatoscopical findings.(AU)

Trastornos autoinflamatorios de la queratinización / Autoinflammatory Keratinitzation Diseases

La enfermedad autoinflamatoria de la queratización (AiKD, por sus siglas en inglés) es un concepto clínico novedoso que engloba a las enfermedades que presentan antecedentes genéticos, así como mecanismos patogénicos mixtos de autoinflamación y autoinmunidad, lo que en su conjunto se traducirá en una queratinización aberrante de la piel. Los recientes avances han revelado causas genéticas y/o factores predisponentes para una serie de AiKD, dentro de los que se pueden enumerar la presencia de las mutaciones en el IL36RN, en relación con la psoriasis pustulosa, la acrodermatitis continua y la hidradenitis supurativa; en el CARD14, en relación con la pitiriasis rubra pilaris tipo V y algunas formas de psoriasis pustulosa, y en el NLRP1 en relación con la queratosis liquenoide crónica familiar (KLC, por sus siglas en inglés). Se sospecha que la fisiopatología de la AiKD también estaría presente en algunos trastornos no monogénicos. Se debe de comprender que existe una relación bidireccional entre la inflamación y la queratinización para poder determinar un tratamiento óptimo; así mismo para poder desarrollar nuevos fármacos ambos factores deben de tenerse en cuenta. Probablemente en los próximos años nuevas enfermedades inflamatorias de la queratinización serán incluidas dentro del grupo de las AiKD (AU)

Autoinflammatory keratinization disease (AiKD) is a novel clinical concept encompassing diseases with a genetic background and mixed pathogenic mechanisms of autoinflammation and autoimmunity, leading to an aberrant keratinization of the skin. Recent advances in medical genetics have revealed genetic causes and/or predisposing factors for a number of AiKD's, such as mutations in IL36RN related with pustular psoriasis, acrodermatitis continua and hidradenitis suppurativa, in CARD14 in pityriasis rubra pilaris type V and some forms of pustular psoriasis, and in NLRP1 related with familial keratosis lichenoides chronica (KLC). It is suspected that AiKD pathophysiology would also be involved in non-monogenic disorders. The bidirectional relationship between inflammation and keratinization should be understood in order to outline optimal management, and new drug development should take both targets into account. We assume that new inflammatory keratinization diseases may be recognized as AiKDs in the coming years (AU)

Autoinflammatory keratinitzation diseases (AIKDs. / Trastornos autoinflamatorios de la queratinización.

Autoinflammatory keratinization disease (AiKD) is a novel clinical concept encompassing diseases with a genetic background and mixed pathogenic mechanisms of autoinflammation and autoimmunity, leading to an aberrant keratinization of the skin. Recent advances in medical genetics have revealed genetic causes and/or predisposing factors for a number of AiKD's, such as mutations in IL36RN related with pustular psoriasis, acrodermatitis continua and hidradenitis suppurativa, in CARD14 in pityriasis rubra pilaris type V and some forms of pustular psoriasis, and in NLRP1 related with familial keratosis lichenoides chronica (KLC). It is suspected that AiKD pathophysiology would also be involved in non-monogenic disorders. The bidirectional relationship between inflammation and keratinization should be understood in order to outline optimal management, and new drug development should take both targets into account. We assume that new inflammatory keratinization diseases may be recognized as AiKDs in the coming years.

Poroqueratosis de localización nasal. Reporte de un caso / Porokeratosis of nasal location. Case report

RESUMEN La poroqueratosis es un trastorno de la queratinización, con herencia autosómica dominante en la mayoría de los casos, vinculada posiblemente a la presencia de un clon mutante de queratinocitos en expansión. Tiene diferentes formas clínicas: de Mibelli, actínica superficial diseminada, lineal, puntiforme, palmoplantar y facial atípica. El diagnóstico se confirma con la histología, presentándose típicamente la laminilla cornoide, que no es patognomónica de esta afección. En el tratamiento de esta patología se utilizan desde agentes tópicos como emolientes, 5-fluorouracilo, calcipotriol, imiquimod y retinoides como terapia sistémica. Otras opciones terapéuticas descritas son extirpación quirúrgica, criocirugía y dermoabrasión cuando se trata de formas localizadas o únicas. Se decide reportar el caso de una paciente femenina con poroqueratosis de afección exclusiva del área nasal por su rara frecuencia y escasos reportes sobre esta forma de presentación en la actualidad.

ABSTRACT Porokeratosis is a disorder of keratinization, with AD inheritance in most cases; possibly linked to the presence of a mutant clone of expanding keratinocytes, in addition to the overexpression of the p53 gene that could be related to an oncogenic potential. This disorder has also been associated with factors such as UVR, immunosuppression cases such as HIV +, liver or kidney failure, transplantation of organs that would act as triggers of this disease. It differs from other pathologies due to the presence of a peripheral hyperkeratotic ring which is usually asymptomatic in half of the patients. Clinically it can occur in different ways: porokeratosis de Mibelli, superficial actinic disseminated, linear, punctate, palmoplantar and atypical facial. Diagnosis is confirmed with histology, with the cornoid lamella typically present, which is not pathognomonic of this condition and consists of a parakeratotic keratinocyte column that extends from an invagination of the epidermis through the stratum corneum. The treatment to choose, will depend on the patient´s age; Size and location of the lesions, the aesthetic implications and the general condition of the affected person. They are used from topics such as emollients, 5-fluorouracil, calcipotriol, imiquimod. Retinoids are found as an option for systemic therapy. Another procedure considers surgical removal, cryosurgery and dermabrasion when dealing with localized or unique forms. We report a case of a 44-year-old female patient who presents with compatible dermatosis porokeratosis, affecting only the nasal area.

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.

Dermatosis Terra Firma-Forme / Terra Firma-Forme Dermatosis

RESUMEN Presentamos un caso típico de Dermatosis Terra Firma-Forme en un adolescente sano de 13 años de edad, visto recientemente en el Servicio de Dermatología de nuestro hospital. Con este caso queremos mostrar las características clínicas de esta dermatosis que con frecuencia no es correctamente diagnosticada o bien pasa desapercibida durante años lo que origina preocupación y ansiedad en el paciente además de pruebas diagnósticas innecesarias. Su diagnóstico es clínico apoyado en la dermatoscopía y el tratamiento sencillo, presentando escasas recidivas.

SUMMARY We report a typical case of a Terra Firma-Forme Dermatosis in a 13-year-old healthy male recently seen in the Dermatology Department of our hospital. The aim of the authors is to show clinical features of this frequently misdiagnosed and underreported dermatosis causing concern and anxiety in the patient as well as unnecessary diagnostic tests. Its diagnosis is clinical supported by dermoscopy and its simple treatment presents few recurrences.

Uso de N-acetilcisteína tópica en ictiosis: experiencia clínica en una serie de casos / Use of topical N-acetylcysteine ​​in ichthyosis: clinic experience in a series of cases

Las ictiosis son trastornos generalizados de la queratinización, que se caracterizan por presentar hiperqueratosis y/o descamación. El tratamiento es sintomático e incluye terapias tópicas y sistémicas. La N-Acetilcisteína (NAC) tópica ha mostrado utilidad en algunos reportes. Se describirá la experiencia con el uso de NAC 10% y urea 5% en novobase II (NB II) en 6 pacientes con distintos tipos de ictiosis hereditarias. Caso Nº1: Escolar masculino de 7 años con Ictiosis lamelar (IL) en tratamiento con fórmula de NAC hace 4 años con buena respuesta. Caso N°2, 3 y 4: Escolar masculino de 7 años, escolar masculino de 5 años y lactante masculino de 1 año 8 meses con Ictiosis recesiva ligada a X (IRLX), en tratamiento con fórmula de NAC con buena respuesta. Caso N°5: Mujer de 18 años con Eritrodermia ictiosiforme congénita (EIC), inicia tratamiento con fórmula de NAC, pero se suspende por mala tolerancia. Caso N°6: Preescolar femenina de 3 años, con Ictiosis epidermolítica (IE), inicia tratamiento con fórmula de NAC con mala tolerancia por lo que también se suspende. Se evaluaron los efectos de la fórmula de NAC en diferentes tipos de ictiosis, mostrando un buen perfil de seguridad y eficacia en IL e IRLX, sin embargo, en EIC e IE su uso estuvo restringido por efectos adversos. El tratamiento con fórmula de NAC presenta buena respuesta y tolerancia en pacientes con IL e IRLX, por lo que podría considerarse en el tratamiento habitual de estos pacientes.

Ichthyosis are generalized disorders of keratinization, characterized by hyperkeratosis and/or scaling. Treatment is symptomatic and includes topical and systemic therapies. Topical N-acetylcysteine (NAC) has shown utility in some reports. We describe the experience using 10% NAC and 5% urea in novobase II (NB II) in 6 patients with different types of hereditary ichthyosis. Case N°1: 7-year-old boy with lamellar Ichthyosis (IL) in treatment with NAC formula 4 years ago, with good response. Case N°2, 3 and 4: 7-year-old boy, 5-year-old boy and 1-year-8-month-old male infant, with X-recessive recessive Ichthyosis (IRLX) in treatment with NAC formula with good response. Case N°5: An 18-year-old woman with congenital ichthyosiform erythroderma (EIC) begins treatment with NAC formula but is discontinued because of poor tolerance. Case No. 6:3-year-old girl, with epidermolytic Ichthyosis (IE), starts treatment with NAC formula with poor tolerance and is also suspended. The effects of the NAC formula on different types of ichthyosis were evaluated, showing a good safety and efficacy profile in IL and IRLX, however, in EIC and IE, its use was restricted by adverse effects. Treatment with NAC formula has a good response and tolerance in patients with IL and IRLX, so it could be considered in the usual treatment of these patients.

Circumscribed palmar or plantar hypokeratosis 10 years after the first description: what is known and the issues under discussion.

This review of the literature on palmoplantar hypokeratosis, a process that was first indentified only 10 years ago, discusses the current state of our understanding, the therapeutic options available, and the debate about etiology. Forty-four publications reporting 69 cases were found. Palmar or plantar hypokeratosis occurs mainly in women (76.8%) and age at the time of a first visit to a physician ranges from 42 to 84 years. Most cases present between the ages of 51 and 70 years. The majority of patients have had solitary lesions usually located on the right palm, particularly in the regions of the thenar (in 44/79 lesions [55.7%]) or hypothenar eminences (in 11/79 lesions [13.9%]). In only 8 cases was there a history of prior trauma at the site. Studies using polymerase chain reaction techniques to identify human papillomavirus involvement were negative in most cases. These hypokeratotic lesions are localized epidermal depressions formed by an abrupt thinning of the stratum corneum, providing a singular histopathologic feature. This condition can currently be considered a localized keratinization disorder affecting zones where there is a thick stratum corneum. The precipitating cause is unknown and a definitive treatment remains to be found. The mechanism would be the localized failure of a clone of keratinocytes during differentiation toward normal palmoplantar hyperkeratinization.

Queratinocitos y queratinización / Keratinocytes and keratinization

En esta revisión se detallan las características del queratinocito y los eventos morfológicos y bioquímicos para su transformación en corneocito, así como también el proceso de adhesión y movilidad a través de los estratos epidérmicos. Se realiza, además, una breve descripción de las queratinas y la relación de sus alteraciones con diversas genodermatosis...(AU)

In this review we detail the characteristics of the keratinocyte and the morphological and biochemical events for its transformation in corneocyte as well as its adhesion and motility through the epidermal layers. In addition, a brief description of the keratins and the relationship of its alterations with several genodermatosis is provided...(AU)

Queratinocitos y queratinización / Keratinocytes and keratinization

En esta revisión se detallan las características del queratinocito y los eventos morfológicos y bioquímicos para su transformación en corneocito, así como también el proceso de adhesión y movilidad a través de los estratos epidérmicos. Se realiza, además, una breve descripción de las queratinas y la relación de sus alteraciones con diversas genodermatosis...

In this review we detail the characteristics of the keratinocyte and the morphological and biochemical events for its transformation in corneocyte as well as its adhesion and motility through the epidermal layers. In addition, a brief description of the keratins and the relationship of its alterations with several genodermatosis is provided...

First symposium of ichthyosis experts.

On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for other health care professionals involved in the care of patients with ichthyosis. The aim of the meeting was to try to structure the care of ichthyosis patients in Spain. As happens in other rare diseases, because of the low prevalence of ichthyosis and the absence of designated referral centers, the number of patients treated in each center is very low and few dermatologists have any real clinical experience with this condition or know how to order diagnostic genetic tests. This article summarizes the presentations given at the symposium and is intended as a reference for anyone interested in the subject.

Paraqueratosis granular: revisión de la literatura a propósito de un caso / Granular parakeratosis: review of the literature apropos of a case

La paraqueratosis granular es un desorden de la queratinización adquirido, secundario a un error en la diferenciación epidérmica. Se presenta en forma de pápulas y placas pruriginosas, eritematosas o de color marrón oscuro, que afectan áreas intertriginosas. Su patogénesis es desconocida, pero algunos casos han sido relacionados con ciertos factores, tales como irritantes físicos o agentes químicos. Entre los hallazgos histopatológicos se incluyen un estrato córneo engrosado, paraqueratosis compacta con retención de gránulos de queratohialina, mientras que el estrato granuloso está preservado. Presentamos un caso de paraqueratosis granular axilar en una mujer y se revisan las principales características clínicas, histológicas y terapéuticas de esta inusual entidad.

Granular parakeratosis is a rare acquired keratinization disorder suspected as a consequence of an error in epidermal differentiation. Clinically it appears as dark or erythematous pruritic papules and plaques, that usually involve intertriginous areas. The pathogenesis of this entity is unknown, but some cases have been related to different factors, such as physical irritation or chemical agents. Histopathologic features include a thickened stratum corneum, compact parakeratosis with retention of keratohyalin granules whereas the stratum granulosum is preserved. We report a case of axillary granular parakeratosis in an adult female and a revision of the clinical, therapeutic and histological features of this unusual entity

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.