Pediatric Dermatology最新文献

Background and objectives: Although skin diseases in Down syndrome (DS) have been investigated, nail disorders remain understudied. This study aims to evaluate the prevalence and clinical characteristics of nail disorders in children with DS.

Methods: This is a multicenter, case-control study in which 221 children with DS and 160 healthy children were recruited from 9 tertiary dermatology centers. A detailed nail and skin examination was performed by an experienced dermatologist in each center. Nail disorders were recorded.

Results: Of the 221 children with DS, 57% (126/221) had at least one nail disorder. The prevalence of nail disorders in the DS group was significantly higher than in the control group (p ≤ 0.001). Brittle nail was the most common nail disorder (19.0%, 42/221) in children with DS, followed by Beau's lines and onychomadesis (16.3%, 36/221), longitudinal ridging (12.7%, 28/221), and self-induced nail disorders (onychophagia, habitual tic deformity, and onychotillomania) (10.0%, 22/221). The risk of any nail disorder was 3 times higher, brittle nails 4.3 times, Beau's lines and onychomadesis 5.6 times, self-induced nail disorders 1.6 times, and longitudinal ridging 3.4 times higher in DS compared to the control group (p < 0.05).

Conclusions: Nail disorders, including brittle nails, Beau's lines, and onychomadesis, self-induced nail disorders, and longitudinal ridging, are common in DS. The identification of nail disorders in DS may aid in recognizing underlying systemic or psychiatric conditions, thereby supporting more comprehensive care for children with DS.

Variants in the gene RELA have been implicated in a monogenic, hereditary form of Behcet's-like syndrome. This case series describes the dermatologic manifestations of three patients with identified RELA-associated autoinflammatory disease. This report also aims to summarize dermatologic manifestations of RELA-associated autoinflammatory disease described in the literature to date.

Background/objectives: Atopic dermatitis (AD) affects 15%-20% of children worldwide, with most treatment in primary care. Initial management of new-onset infantile AD remains poorly characterized.

Methods: This retrospective cohort study included 3053 patients aged 0-2 years diagnosed with AD at pediatric and family medicine clinics at a single institution. Demographic, comorbidities, and treatment information were collected.

Results: The mean age was 0.6 years at initial diagnosis; 54.4% were male. Of 3053 patients, 1015 (33.2%) had ≥ 1 additional atopic comorbidity or complication, most commonly asthma (28.8%), allergy (33.4%), allergic rhinitis (34.7%), conjunctivitis (41.8%), and bacterial infection (6.7%). At diagnosis, 66.8% (2038/3053) received prescription therapy, mostly topical (57.3%, 1743/3043 initial prescriptions). Common treatments at visit 1 (V1) included topical corticosteroid (TCS, 48.4%, 1472/3043 prescriptions), topical antifungal (4.4%, 134/3043), oral antihistamine (4.0%, 121/3043), while only 0.2% (7/3043) received topical calcineurin inhibitors. TCS potency was predominantly low (71.5%, 1053/1472), with medium (27.3%, 402/1472) and high (1.2%, 17/1472) less frequent. 78/1261 children (6.2%) changed potency of TCS between V1 and visit 2 (V2), with 5.2% escalating and 1.0% de-escalating therapy. Escalation was significantly associated with existing atopic comorbidities/complications (OR 3.15, p < 0.001).

Conclusions: Fewer than half of children received anti-inflammatory prescriptions at their initial AD visit. More research is needed to investigate whether this finding represents mild cases or undertreatment. Children with allergic comorbidities were more likely to require escalation to stronger TCS, warranting future exploration of the relationship between initial therapies and disease severity or comorbidity development.

The rubella virus vaccine strain can cause granulomas in patients with inborn errors of immunity that may evolve into chronic, recalcitrant ulcers. This report details treatment of ulcerated rubella granulomas in a patient with ataxia telangiectasia with doxycycline and hydroxychloroquine resulting in partial ulcer healing within 4 weeks, which in turn enabled surgical excision. Though this treatment did not cure or clear the rubella virus, that is known to persist in patients with inborn errors of immunity like ataxia telangiectasia, it enabled durable local lesion control of typically chronic, highly morbid ulcers. Histopathology of skin and bone lesions, the latter not previously described in the literature, is included.

This cross-sectional study analyzed the top 100 bestselling "baby" sunscreens on Amazon to evaluate ingredient composition, formulation types, and marketing claims of popular products. Among the 94 products evaluated, 100% were broad-spectrum and at least SPF 30, 76.6% were mineral-based, and 92.6% were water-resistant, consistent with American Academy of Dermatology's recommendations. Marketing labels such as "pediatrician tested," "dermatologist tested," and "non-nano" were common but lacked standardized definitions or regulatory oversight. These findings highlight the need for greater regulation in sunscreen labeling and marketing.

Background: Alopecia areata (AA) is an autoimmune disease affecting hair follicles that results in nonscarring hair loss. AA impacts 0.1%-0.2% of the United States population, with pediatric patients accounting for 16.0%-27.7% of all cases. The Severity of Alopecia Tool (SALT), a method of quantifying scalp alopecia, helps guide clinical practice and determine response to therapies in clinical trials. Given the emerging role of image-based assessments of alopecia and growth of multimodal generative artificial intelligence (AI) in dermatology, we aimed to assess the "off-the-shelf" ability of a large-language model, GPT-4o, to automate the generation of image-based SALT scores.

Methods: Chart review of patients with AA seen at the Children's Hospital of Philadelphia's Dermatology Clinic was conducted to identify 4-view images of patients' scalps and provider-derived SALT scores. One-hundred-and-four 4-view image sets were de-identified and provided to GPT-4o, which was prompted to generate SALT scores. Concordance between GPT-4o's and providers' scores was determined using intraclass correlation coefficients (ICC) and concordance correlation coefficients (CCC).

Results: ICC and CCC between GPT-4o and in-person provider assessments were 0.815 and 0.866. ICC and CCC between GPT-4o and image-based provider assessments were 0.833 and 0.817. ICC and CCC between two providers were 0.950 and 0.948. These high levels of concordance were confirmed on Bland-Altman plots.

Conclusions: SALT scoring for AA can be challenging due to provider subjectivity, changing sphericity and growth of patients' scalps, particularly among pediatric patients. Our data show the potential adjunct role that "off-the-shelf" generative AI tools may play in SALT scoring without any prior additional explicit training.

Neonatal lupus erythematosus (NLE) is a rare autoimmune condition caused by the transplacental passage of maternal anti-Ro/SSA and anti-La/SSB antibodies, typically presenting with annular erythema or congenital heart block. We report a 3-month-old infant conceived by in vitro fertilization and carried by a surrogate mother who developed annular erythematous plaques in typical and atypical locations at 1 month of age. Skin biopsy and serologic testing confirmed NLE despite the absence of a known maternal autoimmune history; maternal anti-Ro/SSA and anti-La/SSB positivity was identified retrospectively through the surrogate's obstetrician. The cutaneous findings improved significantly with photoprotection and resolved without systemic involvement.

Acute generalized exanthematous pustulosis (AGEP) is a rare severe cutaneous adverse reaction in children. In this systematic review of 47 cases, a male predominance was observed, and medications remained the most common trigger for AGEP, with a higher contribution from infectious etiologies compared with frequencies reported in adult studies. Management primarily involved cessation of the inciting drug, topical corticosteroids, and supportive care. These findings provide practical guidance for early recognition and evaluation of pediatric AGEP.

While parvovirus B19 is classically associated with erythema infectiosum and papular purpuric gloves and socks syndrome, multiple additional cutaneous manifestations have been reported in the literature. This paper describes a 10-year-old girl with a generalized petechial and purpuric eruption involving the trunk, extremities, and face with distinct perioral involvement. Diagnostic evaluation, including histopathology and polymerase chain reaction testing, confirmed acute parvovirus B19 infection with spontaneous resolution over several weeks. This case highlights an atypical presentation that expands the recognized dermatologic spectrum of parvovirus B19 and emphasizes the importance of maintaining diagnostic vigilance in pediatric exanthems to guide appropriate testing and avoid unnecessary interventions.

Fibrodysplasia ossificans progressiva, also known as Münchmeyer's disease, is a rare autosomal dominant genetic disorder characterized by progressive heterotopic ossification, ultimately resulting in a "stone man" phenotype. We present the case of a male infant who exhibited musculocutaneous manifestations during the neonatal period.