Purpose of reviewTo identify factors that impact accessibility to pediatric dermatology and review healthcare delivery models that improve access and address these barriers.Recent findingsUp to one-third of pediatric primary care visits include a skin-related problem, yet pediatric dermatology subspecialist services are highly inaccessible. Workforce shortages and geographic, sociocultural, and economic barriers perpetuate inaccessibility. Teledermatology expands care, particularly to underserved or geographically remote communities, and reduces healthcare-related costs. Federal legislation to support telehealth services with adequate reimbursement for providers with parity between live, video, and phone visits will dictate the continued feasibility of virtual visits. Innovative care delivery models, such as language-based clinics, multidisciplinary teleconferencing, or embedded dermatology services within primary care are other promising alternatives.SummaryDespite efforts to expand access, dermatology still ranks among the most underserved pediatric subspecialties. Improving access requires a multipronged approach. Efforts to expand exposure and mentorship within pediatric dermatology, diversify the workforce and clinical curriculum, recruit and retain clinicians in geographically underserved areas, and collaborate with policymakers to ensure adequate reimbursement for teledermatology services are necessary.
Introduction: Paraneoplastic pemphigus (PNP) is a rare, often fatal, autoimmune blistering disease of the skin and mucous membranes. In children, PNP is frequently associated with Castleman disease (CD). This series describes five cases of PNP associated with CD.Methods: Data were collected retrospectively from the medical records of patients with a diagnosis of PNP and CD from January 2013 to June 2022. Patients ≤22 years old with clinical and immunopathologic evidence of PNP were included; CD was diagnosed histopathologically.Results: Two children, two adolescents, and one young adult (two males, three females) were included. The average age at disease presentation was 11.8 years (range: 7-22 years). Oral (n = 5) and anogenital (n = 3) mucositis were common. Four patients had "unicentric" CD (UCD); one patient had "multicentric" CD (MCD). Castleman tumors were in the retroperitoneum (n = 4) or axilla (n = 1). One patient had myasthenia gravis without thymoma. Three patients had bronchiolitis obliterans (BO).Three patients had complete resection of their CD; two had partial resection. Three patients remain alive with a median follow-up of 13 months (range: 12 months to 13 years); two are clinically stable with resolution of mucocutaneous lesions; one has persistent BO requiring ongoing ventilatory support. Patients who remain alive had UCD with complete resection; all deceased patients had partial resection and BO. Conclusion:Most patients had UCD, and the retroperitoneum was the most common location. Patients with MCD, incomplete resection, and BO died; patients with UCD and complete resection remain alive, even in the setting of BO. Consideration of PNP is critical when pediatric patients present with mucositis as PNP may be clinically indistinguishable from more common causes of mucositis.
Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including KMT2D and KDM6A. This review assesses our current understanding of KS, which was originally named Niikawa–Kuroki syndrome, and aims to guide surveillance and medical care of affected individuals as well as identify gaps in knowledge and unmet patient needs. Ovid MEDLINE and EMBASE databases were searched from 1981 to 2021 to identify reports related to genotype and systems-based phenotype characterization of KS. A total of 2418 articles were retrieved, and 152 were included in this review, representing a total of 1369 individuals with KS. Genotype, phenotype, and the developmental and behavioral profile of KS are reviewed. There is a continuous clinical phenotype spectrum associated with KS with notable variability between affected individuals and an emerging genotype–phenotype correlation. The observed clinical variability may be attributable to differences in genotypes and/or unknown genetic and epigenetic factors. Clinical management is symptom oriented, fragmented, and lacks established clinical care standards. Additional research should focus on enhancing understanding of the burden of illness, the impact on quality of life, the adult phenotype, life expectancy and development of standard-of-care guidelines.
Acne fulminans (AF) is an uncommon variant of inflammatory acne with abrupt eruption of painful nodules, pustules, and hemorrhagic ulcerations, often associated with systemic symptoms. Paradoxical adverse reactions to tumor necrosis (TNF)-alpha inhibitors have been reported, and rare cutaneous complications include pyoderma gangrenosum, Sweet syndrome-like hypersensitivity eruptions, and pustular folliculitis. We report an unusual case of AF in a patient with Crohn disease that worsened with doses of adalimumab, which is considered a second-line treatment for AF. This case highlights that acneiform eruptions may be an underreported paradoxical adverse reaction to anti-TNF alpha therapy.
Localized lichen myxedematosus (LM) is a rare, idiopathic mucinosis characterized by dermal mucin deposition and variable fibroblast proliferation. Nodular lichen myxedematosus, a clinicopathologic subtype of localized LM, is exceedingly rare in pediatric patients with only three prior cases reported. Understanding of LM in pediatric patients is limited by the rarity of the disease, and diagnosis is complicated by overlapping clinical and histopathologic features. There is no standardized treatment for localized LM and treatment is largely dictated by a patient’s desire to minimize cosmetic disfigurement. This case series reports two additional patients with juvenile nodular lichen myxedematosus, highlights the limitations of existing diagnostic criteria, and describes successful treatment of one patient with intralesional triamcinolone.
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