Pediatric Dermatology最新文献

Atopic dermatitis (AD) is associated with several comorbidities, including mental health (MH) conditions among children. We conducted a survey study of caregivers of pediatric AD patients (aged 8-17) (n = 163) and collected information about their child's MH symptoms and their experience seeking MH services for their child. Nearly half of caregivers reported their child had 6 or more days of poor MH symptoms in the past month and reported that barriers to accessing MH services were MH provider inaccessibility (27.0%), distance and transportation (23.3%), and insurance obstacles (19.0%). Given the substantial burden of AD on pediatric patients and the accessibility barriers elucidated in this survey study, engagement of both eczema and MH providers is essential to recognize MH burden among patients and overcome access barriers.

Cutaneous leishmaniasis (CL) is commonly seen in pediatric patients in endemic areas, including Morocco. This retrospective, single center study details 64 confirmed pediatric cases of CL treated with oral clarithromycin 15 mg/kg/day for 10 days per month, for a total of three months. Lesions improved in 96.8% of cases and the treatment was well tolerated. Clarithromycin seems a safe and effective alternative to intralesional injections of meglumine antimoniate.

Hypergranulation tissue is the overgrowth of granulation tissue during the proliferative phase of wound healing. Treatment of hypergranulation tissue in the pediatric patient is focused on efficacious and comfortable options, of which topical steroids have been successfully used. This report discusses management of a large area of hypergranulation and concurrent infection on the scalp of a pediatric patient.

A 17-month-old child presented with a suspected nodule on the hard palate, initially diagnosed as a possible teratoma or adenoma. MRI showed a mucosal mass limited to the submucosa, leading to an excisional biopsy under general anesthesia. The lesion was ultimately identified as a pistachio shell, emphasizing the challenge of diagnosing foreign bodies in atypical locations. This case highlights the need for vigilance among clinicians in identifying uncommon presentations of foreign body ingestion.

Background: Oral tofacitinib shows promise for pediatric alopecia areata (AA), but more data on its efficacy and safety are needed.

Methods: We analyzed 36 patients aged ≤ 16 years with moderate to severe AA (SALT score > 20) who received at least 6 months of oral tofacitinib.

Results: SALT75 was achieved in 72.2% (26/36) and SALT100 in 52.8% (19/36) within 4.1 ± 1.7 and 6.7 ± 2.8 months, respectively; 27.8% (10/36) were non-responders. Nine patients had adverse events, with two requiring treatment discontinuation.

Conclusion: Tofacitinib is effective for pediatric AA, with rapid regrowth in responders. The durability of benefit and need for long term maintenance therapy require further investigation.

Constitutional mismatch repair deficiency (CMMRD) is a rare but severe hereditary cancer predisposition syndrome caused by biallelic pathogenic variants in one of the mismatch repair genes (MLH1, MSH2, MSH6, or PMS2). The condition mainly presents in childhood, with cancers primarily affecting the hematological, brain, and gastrointestinal systems, along with cutaneous features typical of neurofibromatosis type 1. This scoping review aims to explore the clinical characteristics of CMMRD. A systematic search of medical databases resulted in the inclusion of 127 articles. PMS2 is the most affected gene, followed by MSH6, MLH1, and MSH2. Blood and brain malignancies occur in early childhood for all genetic variants, with the age of onset progressively decreasing from PMS2 to MSH6, to MLH1 and MSH2. Gastrointestinal tumors typically present in late adolescence in individuals with PMS2 variants, at slightly younger ages in those with MSH6 variants, and are rarely reported in MLH1 and MSH2 cases. Patients with CMMRD present with café-au-lait macules that are fewer in number and larger than in patients with neurofibromatosis type 1. Additional dermatological findings include hypopigmented patches and intertriginous freckling. PMS2 and MSH6 pathogenic variants are linked to the broadest spectrum of cutaneous manifestations, including vascular tumors, various nevi, and pilomatricomas. Despite its rarity and diverse clinical manifestations, advancements in diagnostic criteria, genetic testing, and surveillance protocols have significantly improved survival rates and cancer management in CMMRD patients.

Olmsted syndrome (OS) is a rare genetic condition characterized by severe palmoplantar and periorificial keratoderma, often linked to TRPV3 gene mutations. This case report describes a 23-month-old Hispanic boy with TRPV3-associated OS who initially showed limited improvement with acitretin but experienced substantial recovery with the addition of erlotinib, an epidermal growth factor receptor (EGFR) inhibitor. A review of the literature indicates that erlotinib has shown efficacy in other cases of OS, making it a promising therapeutic option. This report underscores erlotinib's potential to effectively manage TRPV3 mutation-associated OS, especially when traditional treatments fail.

Introduction: Chronic skin diseases in children can significantly impair their quality of life (QOL) due to physical discomfort and psychosocial challenges. Disease-focused summer camps, like Camp Wonder (CW), offer a supportive environment for children to engage in activities and build friendships, potentially improving their QOL.

Methods: This prospective cohort study evaluated the short-term QOL benefits of CW as measured by the Children's Dermatology Life Quality Index (CDLQI). Data were collected from 58 camp participants aged 8-17 years. The CDLQI was administered on the first and last days of CW. The paired sample t-test was used to compare pre-camp and post-camp CDLQI scores. A multiple linear regression analysis examined predictors of QOL improvement, including age, diagnosis category, sex, and initial CDLQI severity.

Results: CW participants showed significant improvements in total CDLQI scores (mean change = -3.8 points, p < 0.0001) and in all constituent domains. Participants with "very large" initial QOL impacts experienced an average reduction of 8.4 points, while those with "extremely large" impacts had a reduction of 15.3 points relative to the reference group. Age, sex, and diagnosis were not significant predictors of QOL changes.

Conclusion: CW provides significant short-term QOL benefits, particularly for children with severe impairments due to chronic skin disease. These findings suggest that summer camp experiences may be useful as part of a comprehensive care strategy, especially for pediatric patients with severe QOL impacts.

Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder characterized by post-natal growth retardation, facial dysmorphism, large thumbs and halluces, and intellectual deficits. RTS has a broad phenotypic spectrum including cardiac, genitourinary, digestive, ear, nose and throat, and skin manifestations. Patients also have an increased risk of severe infections, developing benign tumors, and immunological abnormalities suggesting primary immunodeficiencies. We report a case of RTS with severe recalcitrant eczema, recurrent skin and chest infections, food allergies associated with a hyper-IgE profile, and other immunological abnormalities, who had a significant response to dupilumab.