Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs.

Autosomal recessive congenital ichthyoses (ARCI) are a skin pathology due to genetic causes characterized by a variable degree of desquamation, accompanied by erythema. The degree of symptoms is variable, different altered genes are involved, and the symptoms drastically affect patients' quality of life. Topical treatments are a first-choice strategy due to their ease of application and cost; however, enteral administration of retinoids offers greater efficacy, although with certain limitations. Despite the treatment alternatives, ARCI will persist throughout life, disabling people. Therefore, the search for new treatments always remains necessary. Especially repositioning drugs could be a short-term alternative to new affordable treatments for patients. Taking advantage of extensive knowledge of known drugs or biologics could ensure more accessible and possibly lower-cost treatments. This review briefly and concisely addresses possible repositioning strategies with drugs and biologics for ichthyosis.

Ictiosis Laminar. Un caso familiar recurrente

Introducción: Las ictiosis hereditarias pueden ser sindrómicas y no sindrómicas, estas últimas, de acuerdo con la expresión fenotípica cutánea, incluyen, ictiosis comunes, ictiosis recesiva ligada al cromosoma X, ictiosis congénita autosómica recesiva, ictiosis queratinopática y otras formas. La ictiosis congénita autosómica recesiva, incluye tres fenotipos principales: La ictiosis arlequín, ictiosis laminar y eritrodermia ictiosiforme congénita. Comunicamos un caso clínico de ictiosis laminar recurrente en una familia. Reporte de caso: Recién nacido pretérmino, tiene hermana de 6 años, con diagnóstico de ictiosis lamelar. Madre niega consanguinidad con esposo, y parientes con esta enfermedad. Al nacer se observa cubierto de membrana colodión en toda la piel, ectropión y eclabio. El manejo inicial, fue gasa vaselinada, lagrimas artificiales, gasas húmedas en los ojos. Actualmente baños con crema de ducha, Shampoo y Aceite mineral, cremas y loción hidratantes y Acitretina, está en franca mejoría. Conclusiones: Con la historia clínica y los antecedentes familiares es posible diagnosticar ictiosis laminar. El manejo es multidisciplinario.

Introduction: Hereditary ichthyosis can be syndromic and non-syndromic, the latter, according to the cutaneous phenotypic expression, include common ichthyosis, X-linked recessive ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis and other forms. Autosomal recessive congenital ichthyosis includes three main phenotypes: harlequin ichthyosis, lamellar ichthyosis, and congenital ichthyosiform erythroderma. We report a clinical case of recurrent lamellar ichthyosis in a family. Case Report: Preterm newborn, has a 6-year-old sister, diagnosed with lamellar ichthyosis. Mother denies consanguinity with husband, and relatives with this disease. At birth, it is observed covered with collodion membrane throughout the skin, ectropion and eclabio. The initial management was Vaseline gauze, artificial tears, wet gauze in the eyes. Currently baths with shower cream, Shampoo and mineral oil, moisturizing creams and lotions and Acitretin, is clearly improving. Conclusions: With the medical history and family history it is possible to diagnose lamellar ichthyosis. Management is multidisciplinary.

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.