A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.

Genodermatoses are often considered rare diseases seldom seen by practicing clinicians, but as a result, professionals often have little experience or confidence with their diagnosis when they are called upon for a clinical case. This text presents a comprehensive illustrated overview of almost 200 inherited diseases of the skin, hair, and nails. Examples have been expanded, with new images added to provide clear examples, alongside coherent and comprehensive explanations to enable clinicians to easily identify and source relevant information. This resource encompasses a varied range of skin diseases, providing accessible and in-depth information to help familiarise clinicians. The entry for each disease provides background, followed by common characterisations, manifestations, laboratory findings, genetics, cutaneous and extracutaneous findings, differential diagnosis, an overview of complications and recommended follow-ups. Authored by dermatologists and geneticists, this is an atlas of scientific research which updates established information with current studies and references. In its third edition, this text becomes an invaluable resource for dermatologists and pediatricians.

Diagnosing a genetic skin disease can sometimes be a difficult task for a dermatologist. This is especially true for genodermatoses-generally considered rare diseases seldom seen by practicing clinicians. As a result, professionals often have little experience with their diagnosis. The Atlas of Genodermatoses presents a unique collection of such ca

Negli ultimi anni i progressi nelle metodiche di analisi molecolare hanno consentito una migliore comprensione delle basi molecolari delle ittiosi e hanno portato alla necessità di elaborare una nuova classificazione e di revisionare la nomenclatura delle ittiosi congenite. A tale fine, nel 2007 si è tenuta la prima Consensus Conference sulle Ittiosi. Nel presente elaborato illustreremo la nuova classificazione delle ittiosi sindromiche, insieme alle caratteristiche cliniche e molecolari delle stesse.

Con il termine Ittiosi cheratinopatiche si identifica un gruppo di ittiosi causate da mutazioni a carico dei geni della famiglia delle cheratine. La malattia di Hailey-Hailey (o pemfigo benigno familiare cronico) è caratterizzato da vescicole ad evoluzione erosivo-crostosa che compaiono su fondo eritematoso, localizzate prevalentemente alle pieghe flessorie. La malattia di Darier è una patologia della cheratinizzazione a trasmissione autosomica dominante, caratterizzata da papule cheratosiche localizzate nelle aree seborroiche del corpo e da peculiari anomalie delle unghie; il decorso è cronico-recidivante.

Le cheratodermie palmoplantari rappresentano un capitolo vasto e difficile della dermatologia moderna: sono malattie ereditarie o acquisite caratterizzate da un anomalo ispessimento della cute localizzato in sede palmo-plantare. La classificazione delle CPP ereditarie non è semplice e si basa su tre criteri: l’estensione di malattia (CPP “diffuse” e “focali”), la modalità di trasmissione genetica (CPP “dominanti” e “recessive”) e la presenza o meno di sintomi extracutanei associati. Recentemente, si è giunti all’identificazione dei geni responsabili di molte forme di CPP, che ha confermato e/o modificato le classificazioni tradizionali. Per tale motivo, è importante che oggi la diagnosi di CPP avvenga secondo una combinazione del criterio morfologico tradizionale e del test genetico di conferma.

Epidermolysis Bullosa (EB) is a group of genetic conditions that cause fragile and blistering skin. Although there are different types of EB, which differ in severity, their signs and symptoms overlap. As a result of this disorder, patients face an unbearable burden in their lives, and their Quality of Life (QoL) is negatively affected at every life cycle stage. Nevertheless, the assessment of the quality of life of these patients is scanty. This project aims to develop a patient-centered questionnaire to assess the QoL of EB patients. This tool will be a valid aid for clinicians to understand patients better and identify the areas that need more attention; moreover, it will allow them to follow the patients over time and evaluate the impact of any treatments. The methodological process to develop the questionnaire consisted of two phases: firstly, a critical review of scientific literature was performed; secondly, a pseudo-Delphi study was carried out. A multidisciplinary panel (including patients, caregivers, and clinicians) actively participated in round tables to discuss the main areas of interest. Starting from this initial set of areas and through the repetition of Delphi (up to three rounds), a gradual refinement of the statements was carried out to define a list of items to be included in an easy-to-use but meaningful questionnaire. The final patient-centered questionnaire is thus able to measure the QoL beyond the physical symptoms and the clinical evolution of the disease, encompassing functional autonomy, psycho-emotional state, social relations and the working field.

Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. ARCI is caused by biallelic mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, SDR9C7, SULT2B1, and TGM1. The most severe form of ARCI, harlequin ichthyosis, is caused by mutations in ABCA12. Mutations in this gene can also lead to congenital ichthyosiform erythroderma or lamellar ichthyosis. We present a large cohort of 64 patients affected with ARCI carrying biallelic mutations in ABCA12. Our study comprises 34 novel mutations in ABCA12, expanding the mutational spectrum of ABCA12-associated ARCI up to 217 mutations. Within these we found the possible mutational hotspots c.4541G>A, p.(Arg1514His) and c.4139A>G, p.(Asn1380Ser). A correlation of the phenotype with the effect of the genetic mutation on protein function is demonstrated. Loss-of-function mutations on both alleles generally result in harlequin ichthyosis, whereas biallelic missense mutations mainly lead to CIE or LI