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Syndromic ichthyoses are a group of disorders whose genetic alterations impact both epidermal and non-epidermal tissues. Therefore, patients present symptoms in other organs. Most are extraordinary and, in some, ichthyosiform desquamation has been poorly described. Their patterns of inheritance are diverse; their extracutaneous clinical signs, heterogeneous; and the skin symptoms, highly variable, which hinders a proper clinical classification. Ichthyosis diagnosis starts with proper anamnesis, detailed physical examination, and detection of associated analytic and/or histologic findings. Genetic testing is indispensable, not only for diagnostic certainty, but also because understanding the molecular substrate for each patient is the first step towards finding an individualized therapeutic regimen. While it will almost invariably involve facilitating desquamation and maintaining skin hydration using topical exfoliants and emollients, recently, replacement therapies aiming at substituting the proteins and lipids specifically altered in each patient are being developed and gene therapy approaches with the ultimate goal of curing the disease are being assessed. In part 2 of this review, we'll be updating the clinical and genetic findings of syndromic entities, ichthyosis diagnosis and treatment., (Copyright © 2024. Publicado por Elsevier España, S.L.U.)

Ichthyoses are a heterogeneous group of diseases sharing symptoms and a common etiopathogenic mechanism. Clinically, these diseases are characterized by the presence of erythema and variable degrees of skin thickening and desquamation. Although the affected area, severity, and molecular substrate are very variable, they are all signs of a disruption of the barrier formed during epidermal differentiation. Ichthyoses follow patterns of Mendelian inheritance and present symptoms since birth or shortly thereafter. Clinically, they can be categorized into non-syndromic (when symptoms are caused exclusively by the epidermal barrier dysfunction) and syndromic ichthyoses (when the causal gene has extracutaneous functions impacting other organs).Knowledge of molecular mechanisms has improved dramatically over the past few years, and we currently know not only most causal genes, but also the functions of the encoded proteins and their impact on skin barrier formation. In the first part of this review, we'll be introducing ichthyosis physiopathology, along with a clinical and genetic update of non-syndromic entities (those included in the consensus classification and those clinically and/or molecularly characterized since then)., (Copyright © 2024. Publicado por Elsevier España, S.L.U.)

Molluscum contagiosum is one of the most common viral infections in childhood. It is a benign and usually self-limiting infection, but its treatment in children can be challenging, particularly when the patient presents multiple lesions or when lesions are symptomatic or highly visible. Several treatment options exist. Choice of treatment depends on the number and location of lesions, the prior experience of the treating physician, and the preferences of the child's parents or carers. This article provides an update on treatment options for molluscum contagiosum, with a particular focus on immunocompetent pediatric patients., (Copyright © 2018 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.)

Monogenic autoinflammatory diseases are a heterogeneous emergent group of conditions that are currently under intensive study. We review the etiopathogenesis of these syndromes and their principal manifestations. Our aim is to propose a classification system based on the clinicopathologic features of typical skin lesions for routine clinical use in dermatology. Our focus is on diagnosis in pediatric practice given that this is the period when the signs and symptoms of these syndromes first appear. In Part 1 we discuss the course of urticaria-like syndromes, which include cryopyrin-associated periodic conditions and hereditary periodic fever syndromes. Pustular syndromes are also covered in this part. Finally, we review the range of therapies available as well as the genetic mutations associated with these autoinflammatory diseases., (Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.)

Warts are among the most common skin infections in children. Although numerous treatment options are available, none are completely effective in a single session. Treatment is particularly complicated in children, not only because certain treatments are poorly tolerated, but also because parents frequently have unrealistic expectations. In this article, we offer an update on the treatments available for warts, focusing specifically on pediatric patients. We do not discuss treatments for oral and anogenital warts., (Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.)

Background: Few studies have investigated ear involvement in nonsyndromic autosomal recessive congenital ichthyosis (ARCI)., Objectives: To assess the type and frequency of otologic manifestations of ARCI in patients under follow-up at the pediatric dermatology department of our hospital., Materials and Methods: We prospectively studied the presence of ear pain, ear itching, tinnitus, otitis, cerumen impaction, accumulation of epithelial debris, and hearing loss. Daily hygiene measures, topical treatments, medical-surgical interventions, and frequency of visits to an ear, nose, and throat (ENT) specialist were noted in the patients' medical records. Ear examination and hearing tests were performed in all cases., Results: Ten patients were studied: 2 had a self-healing collodion baby phenotype and 8 had ichthyosis. There was mention of otologic manifestations in the records of all 8 patients with ichthyosis (100%); 6 of these patients (75%) had abnormalities in the external auditory canal examination and 2 (25%) had conductive hearing loss. Our findings are limited by the small number of patients studied, all of whom were younger than 19 years., Conclusions: The involvement of both dermatologists and ENT specialists in the management of patients with ichthyosis is crucial to ensure the application of the best therapeutic and preventive measures. More studies are needed to assess the prevalence and impact on quality of life of ear involvement in patients with ichthyosis and to determine the optimal interval between ENT visits for these patients., (Copyright © 2015 Elsevier España, S.L.U. and AEDV. All rights reserved.)

Filaggrin is a structural protein that is fundamental in the development and maintenance of the skin barrier. The function of filaggrin and its involvement in various cutaneous and extracutaneous disorders has been the subject of considerable research in recent years. Mutations in FLG, the gene that encodes filaggrin, have been shown to cause ichthyosis vulgaris, increase the risk of atopic dermatitis and other atopic diseases, and exacerbate certain conditions. The present article reviews the current knowledge on the role of filaggrin in the skin barrier, FLG mutations, and the consequences of filaggrin deficiency., (Copyright © 2013 Elsevier España, S.L.U. and AEDV. All rights reserved.)