Br J Dermatol
November 2024
H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, fixed flexion contractures of the toe joints, and the proximal interphalangeal joints. In rare cases, autoinflammatory and lymphoproliferative manifestations have also been reported. This disorder is due to loss-of-function mutations in gene, which encode the equilibrative nucleoside transporter ENT3.
View Article and Find Full Text PDFDermatol Ther
November 2022
Background/objectives: We observed isolated cases of perialar intertrigo in children and teenagers that did not appear to correspond to any known clinical entity. The objective of this study was to describe the clinical features of this dermatosis and the clinical characteristics of the patients.
Methods: We conducted a prospective, multicenter cohort study in France from August 2017 to November 2019.
Background: Congenital nail matrix nevi (NMN) are difficult to diagnose because they feature clinical characteristics suggestive of adult subungual melanoma. Nail matrix biopsy is difficult to perform, especially in children.
Objective: To describe the initial clinical and dermatoscopic features of NMN appearing at birth (congenital) or after birth but before the age of 5 years (congenital-type).
Background: Teledermoscopy (TDS) improves diagnostic accuracy and decreases the number of unnecessary consultations.
Objectives: To determine the diagnostic concordance in tertiary (dermatologist-to-experts) TDS with histopathology/follow-up-based diagnosis.
Methods: A descriptive retrospective cohort study including 290 requests.
Trials
December 2019
Background: Cutaneous microcystic lymphatic malformations (CMLMs) are rare conditions in children and adults. They present as clusters of vesicles full of lymph and blood to various extents, inducing maceration, esthetic impairment, pain, and impaired quality of life. The treatment is challenging.
View Article and Find Full Text PDFBackground: Phase III clinical trials of biotherapies for childhood psoriasis are designed for a selected population, which can differ from real-life patients.
Objective: Our objective was to assess the proportion of children with psoriasis that received biotherapy in the biological treatments for pediatric psoriasis (BiPe) cohort that would be excluded from phase III clinical trials of these treatments.
Methods: Data concerning initiation of the first biotherapy from all patients included in the BiPe cohort were analyzed.
Background: Atopic dermatitis is a highly prevalent, chronic, relapsing disease in both adults and children. On the severity spectrum, lower-end patients benefit from small amounts of topical anti-inflammatory treatments (TAT), whereas higher-end patients need systemic immunosuppressants; in-between patients are treated with TAT and phototherapy. The major therapeutic challenge in this population is the long-term control of disease activity, and the current TAT-based pro-active strategy does not meet all their needs.
View Article and Find Full Text PDFMethotrexate has demonstrated its efficiency for the treatment of juvenile localized scleroderma but some patients may be resistant. The aim of our study was to define the profile of such patients. We performed an observational retrospective multicenter study between 2007 and 2016 and included all children seen in the French Paediatric Dermatology and Rheumatology departments with active localized scleroderma treated by methotrexate for a minimum of 4 months.
View Article and Find Full Text PDFPurpose: PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. PIK3CA encodes the p110α catalytic subunit of phosphatidylinositol-3-kinase (PI3K), a critical transducer of growth factor signaling. As mTOR mediates the growth-promoting actions of PI3K, we hypothesized that the mTOR inhibitor sirolimus would slow pathological overgrowth.
View Article and Find Full Text PDFBackground: Psoriasis affects 2-4% of the population, with the most common clinical type being plaque psoriasis. The linear form of psoriasis is very rare. The literature on linear psoriasis (LP) consists of only case reports, and data are few.
View Article and Find Full Text PDFIntroduction: To assess the prevalence of nail involvement in children <16 years old with a confirmed diagnosis of scabies.
Study Design: Observational, prospective study in 7 French dermatology departments between June 2015 and January 2017. Children were included if they had scabies confirmed by dermoscopy and/or microscopy and if nails could be sampled.
Psoriasis affects 0.5-2% of children. Severe forms required use of systemic treatments.
View Article and Find Full Text PDFBackground: Knowledge regarding the morphologic spectrum of pediatric melanoma (PM) is sparse, and this may in part contribute to delay in detection and thicker tumors.
Objective: To analyze the clinicodermoscopic characteristics of PM.
Methods: Retrospective study of 52 melanomas diagnosed in patients before the age of 20 years.