Hidradenitis suppurativa in pediatric patients with Down Syndrome: a comparative study of 116 cases and controls.

Background: Hidradenitis suppurativa (HS) seems to be more prevalent in patients with Down syndrome (DS), with earlier onset, higher incidence in females, and increased body mass index (BMI) in these individuals.

Objectives: To describe the demographic, clinical characteristics, and severity of HS in children with DS and compare them to DS-non-HS patients.

Methods: A retrospective, observational, 5-year study of children (<18 years) with DS at Hospital Infantil Universitario Niño Jesús.

Short Anagen Hair Syndrome and Its Association With WNT10A Gene Variants: A Report of Three Pediatric Cases.

Short anagen hair syndrome (SAHS) is a rare hair disorder characterized by a shortened anagen phase, limiting hair growth to a few centimeters. SAHS is a benign condition often improving after puberty, with diagnosis supported by clinical, trichological, and genetic findings. We report three pediatric cases of persistently short hair, all with negative hair pull tests and trichogram findings revealing club-shaped roots, tapering, and hair shaft diameter variability.

Nonsyndromic epidermal differentiation disorders: New classification and nomenclature based on disease-associated genes leading to targeted therapy.

Epidermal differentiation disorders (EDDs) encompass inherited conditions characterized by abnormal epidermal differentiation, including nonsyndromic and syndromic subtypes with more extensive cutaneous involvement or palmoplantar keratodermas. Nonsyndromic EDDs (nEDDs) are defined as disorders that primarily affect large areas of skin and adnexal structures without alterations in extracutaneous tissues resulting from the underlying genetic change. To facilitate the development of targeted therapies and provide clinicians with clearer therapeutic guidance, we have recently developed a new nomenclature for EDDs that includes the causative altered gene and the nEDD subgroup designation, sometimes with a clinical or histological descriptor or acronym.

Management of congenital ichthyoses: guidelines of care: Part two: 2024 update.

In 2019, a group of experts published the first European guidelines for the management of congenital ichthyoses after a multidisciplinary expert meeting held in 2016. An update of these guidelines and literature search was planned every 5 years, given the clinical, molecular and therapeutic advances, including the use of biologic therapies. We present here updated guidelines that have been developed by a reorganized multidisciplinary group of international experts after a systematic review of recent literature, discussions and consensus reached at an expert conference held in June 2023.

Syndromic epidermal differentiation disorders: New classification towards pathogenesis-based therapy.

Since the 2010 classification of ichthyoses, our understanding of hereditary epidermal differentiation disorders (EDDs) has markedly increased, allowing consideration of new therapeutic targets based on disease pathogenesis. A new gene- and protein product function-based classification focuses on shared mechanisms of disease pathogenesis, with the possibility that grouped disorders may respond similarly to new therapeutics. These EDDs have been subdivided into syndromic (sEDD), nonsyndromic with features limited to skin and appendages (nEDD), and predominantly palmoplantar skin involvement (pEDD, nonsyndromic and syndromic).

Management of congenital ichthyoses: guidelines of care: Part one: 2024 update.

In 2019, a group of experts published the first European guidelines for the management of congenital ichthyoses after a multidisciplinary expert meeting held in 2016. An update of these guidelines and literature search was planned every 5 years, given the clinical, molecular and therapeutic advances, including the use of biologic therapies. We present here updated guidelines that have been developed by a reorganized multidisciplinary group of international experts.

Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

More than 50 palmoplantar epidermal differentiation disorders (pEDDs) have been reported in the literature. Various descriptors have been used to name these conditions, including clinical features often designated as acronyms or evocative terms, and names of clinicians and of geographical locations. Not only has this nomenclature been criticized for its lack of methodological consistency, but it has also progressively lost its clinical relevance.

Sonographic Characterization of Red-Blue Neurofibromas in Patients With Neurofibromatosis Type 1: An Observational Prospective Study.

Objectives: Red-blue neurofibromas (RBNs), found in up to 29% of adult neurofibromatosis type 1 (NF1) patients, present as red-blue macules measuring 1-2 cm in diameter, primarily on the trunk. Despite their prevalence, RBNs often go unnoticed due to their subtle appearance. Ultrasound characterization serves as a diagnostic clue yet lacks comprehensive studies in both adult and pediatric populations.

Biologics in congenital ichthyosis: are they effective?

Background: Congenital ichthyoses comprise a heterogeneous group of genetic diseases that require lifelong treatment and have a major impact on patients' quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in congenital ichthyoses has raised the possibility of repurposing currently available biologics.

Idiopathic calcinosis cutis in an infant: The importance of a wait-and-see approach.

A healthy 2-year-old girl presented with multiple asymptomatic subcutaneous nodules on both legs. Histologically demonstrated calcium deposition within the dermis and subcutaneous tissue consistent with calcinosis cutis. Laboratory abnormalities, underlying genetic conditions, and potential triggering factors were ruled out.

Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study.

Background: Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced by vitamin D deficiency. Single-nucleotide polymorphisms (SNPs) in VDR and CYP24A1 have been previously associated with AD.

Objective: We sought to characterize the associations between the VDR and CYP24A1 polymorphisms and the vitamin D and lipid biochemical profile in children diagnosed with AD.

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the Gene Associated with Autosomal Recessive Erythrokeratoderma.

Hereditary palmoplantar keratodermas (PPKs) are a clinically and genetically heterogeneous group of disorders characterized by excessive epidermal thickening of palms and soles. Several genes have been associated with PPK including , a gene encoding a crucial component of desmosomes that has been associated with dominant and recessive keratoderma. We report a patient with recessive erythrokeratoderma (EK) in which whole exome sequencing (WES) prioritized by human phenotype ontology (HPO) terms revealed the presence of the novel variant c.

Ichthyosis.

The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation. The resultant skin barrier dysfunction leads to increased transepidermal water loss and inflammation.

Inter- and intra-observer variability in the selection of therapy for infantile hemangiomas among pediatric dermatologists in Spain.

Background: Guidelines and expert recommendations on infantile hemangiomas (IH) are aimed at increasing homogeneity in clinical decisions based on the risk of sequelae.

Objective: The objective was to analyze the inter- and intra-observer agreement among pediatric dermatologists in the choice of treatment for IH.

Methods: We performed a cross-sectional inter-rater and intra-rater agreement study within the Spanish infantile hemangioma registry.

Evolution of incidence of chilblain-like lesions in children during the first year of COVID-19 pandemic.

Background: The COVID-19 pandemic has brought innumerable reports of chilblains. The relation between pernio-like acral eruptions and COVID-19 has not been fully elucidated because most reported cases have occurred in patients with negative microbiological tests for SARS-CoV-2.

Methods: A retrospective study of 49 cases of chilblains seen during the first year of the pandemic in a children's hospital in Madrid, Spain.