Trichophyton erinacei infection in humans: a case report and a literature review.

Background: Trichophyton (T.) erinacei is a rare but emerging zoonotic dermatophyte that is rarely isolated as a human pathogen, with only a few cases extensively described in the literature.

Patients And Methods: We conducted a systematic search to identify eligible articles reporting demographics, clinical characteristics, and the therapeutic approach regarding T.

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.

Objective: To demonstrate a high-yield molecular diagnostic workflow for lateralized overgrowth (LO), a congenital condition with abnormal enlargement of body parts, and to classify it by molecular genetics.

Study Design: We categorized 186 retrospective cases of LO diagnosed between 2003 and 2023 into suspected Beckwith-Wiedemann spectrum, PIK3CA-related overgrowth spectrum (PROS), vascular overgrowth, or isolated LO, based on initial clinical assessments, to determine the appropriate first-tier molecular tests and tissue for analysis. Patients underwent testing for 11p15 epigenetic abnormalities or somatic variants in genes related to PI3K/AKT/mTOR, vascular proliferation, and RAS-MAPK cascades using blood or skin DNA.

Successful treatment of pulmonary arterial hypertension in a 2-month-old female infant with incontinentia pigmenti: A case report.

Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma gene, formerly known as NF-κB essential modulator. The disorder is typically identified by peculiar skin findings that develop throughout the 1 year of life.

A single scalp nodule as the first presentation of acute lymphoblastic leukemia () in a healthy-appearing infant: a case report.

Background: Infant leukemia is a rare form of acute leukemia diagnosed prior to the age of 1 and is characterized by an extremely poor prognosis due to its dismal response to current therapeutic approaches. It comprises about 4% of all childhood cases of acute lymphoblastic leukemia (ALL). Isolated initial cutaneous involvement in ALL is uncommon, and even more so in infant ALL.

A 52-week multicenter retrospective real-world study on effectiveness and safety of dupilumab in children with atopic dermatitis aged from 6 to 11 years.

Dupilumab has been shown to be a safe and effective drug for the treatment of atopic dermatitis (AD) in children from 6 months to 11 years in randomized clinical trials. Aim: The aim of this real-life study was to determine the effectiveness in disease control and safety of dupilumab at W52 in moderate-to-severe AD children aged 6-11 years. All data were collected from 36 Italian dermatological or paediatric referral centres.

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.

Heterozygous germline or somatic variants in AKT3 gene can cause isolated malformations of cortical development (MCDs) such as focal cortical dysplasia, megalencephaly (MEG), Hemimegalencephaly (HME), dysplastic megalencephaly, and syndromic forms like megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation syndrome. This report describes a new case of HME and capillary malformation caused by a somatic AKT3 variant that differs from the common p.E17K variant described in literature.

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

PIK3CA pathogenic variants are responsible for a group of overgrowth syndromes, collectively known as PIK3CA-Related Overgrowth Spectrum (PROS). These gain-of-function variants arise postzygotically, and, according to time of onset, kind of embryonal tissue affected and regional body extension, give rise to heterogeneous phenotypes. PROS rarity and heterogeneity hamper the correct estimation of its epidemiology.

Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is caused by somatic mosaic NRAS variants and characterized by melanocytic/sebaceous naevi, eye, and brain malformations, and FGF23-mediated hypophosphatemic rickets. The MEK inhibitor Trametinib, acting on the RAS/MAPK pathway, is a candidate for CSHS therapy. A 4-year-old boy with seborrheic nevus, eye choristoma, multiple hamartomas, brain malformation, pleural lymphangioma and chylothorax developed severe hypophosphatemic rickets unresponsive to phosphate supplementation.

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.

Lateralized/segmental overgrowth disorders (LOs) encompass a heterogeneous group of congenital conditions with excessive body tissue growth. Documented molecular alterations in LOs mostly consist of somatic variants in genes of the PI3KCA/AKT/mTOR pathway or of chromosome band 11p15.5 imprinted region anomalies.

Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.

Kaposiform hemangioendothelioma (KHE) is a rare locally aggressive mixed vascular tumor, with typical onset in early childhood and characterized by progressive angio- and lymphangiogenesis. Its etiopathogenesis and molecular bases are still unclear. Here, we report the first case of congenital KHE harboring a PIK3CA mosaic pathogenic variant (c.

A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.

Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by heterozygous germline activating pathogenic variants in mammalian target of rapamycin (MTOR) on chromosome 1p36. A few patients with disseminated mosaicism have been described so far and they seem to display a different phenotype when compared to germline cases. Here we report the sixth case with a disseminated mosaic MTOR pathogenic variant, a 7-year-old boy with hemimegalencephaly, epilepsy, developmental delay, hypomelanosis of Ito, and lateralized overgrowth.

Expression of miRNA 155, FOXP3 and ROR gamma, in children with moderate and severe atopic dermatitis.

Background: Atopic dermatitis is a disease characterized by a chronic inflammatory process in the skin, but its link to miRNA 155 is less known. The aim of the study was to evaluate the expression of microRNA155, and T helper type 17 cells and Treg cells in children with atopic dermatitis.

Methods: The study population consisted of: children seen for atopic dermatitis at the outpatient ambulatory of Dermatology at the Children Hospital Regina Margherita, Torino, Italy (N.

Three case reports of post immunization and post viral Bullous Pemphigoid: looking for the right trigger.

Background: Bullous pemphigoid (BP) is a blistering skin disorder infrequent in infancy and rarely reported in medical literature.

Case Presentation: Here we describe three cases of BP which were referred to our department in the last 15 years. Two of them developed an eruption of bullous lesions just a few days after vaccination for diphtheria, tetanus, pertussis, poliomyelitis, hepatitis B and Haemophilus influenzae B.

Neonatal lupus erythematosus: a cutaneous cases based update.

Background: Neonatal Lupus Erythematosus (NLE) is an uncommon autoimmune disease characterized by cutaneous, hepatic, hematological, neurological and cardiac involvement.

Case Presentation: Here we report four cases of cutaneous NLE which were referred to our department in the last 10 years and update literature. The newborns presented with different skin, clinical and laboratory features.

Acute hemorrhagic edema of infancy: a troubling cutaneous presentation with a self-limiting course.

Acute hemorrhagic edema of infancy (AHEI) is an unusual form of leukocytoclastic vasculitis with dramatic distinguishing skin lesions that occurs in infants ages 4 to 24 months old. The disease presents with skin eruptions that usually start with large (1-5 cm), symmetrically distributed, hemorrhagic lesions in a characteristic cockade pattern. The lesions are typically located on the lower extremities, face (in particular the ears, cheeks, and eyelids), and gluteal area.