Pediatric Dermatology最新文献

We report a child presenting with pigmentary skin lesions and spinal neurofibromas who was diagnosed molecularly with KRAS mosaicism. We review the previous literature of two cases of congenital skin lesions and neurofibromas and spinal nerve root hypertrophy caused by KRAS variants and highlight this presentation as an important differential diagnosis for neurofibromatosis.

Integrating First Nations knowledge systems and Western research methodologies recognizes the strength, experience, and insight of First Nations peoples in addressing health issues in their communities. In research, this includes projects being led by First Nations Elders and peoples, including First Nations researchers in the team, and collecting data in ways that reflect First Nations ways of knowing, being, and doing. In this paper, we reflect upon the Koolungar (children) Moorditj (strong) Healthy Skin Project; operational in Perth and Bunbury, Western Australia, Australia, where the traditional custodians are the Noongar Aboriginal people. This Aboriginal Elder co-designed project is presented as a case study to illustrate the practical use of The Kids Research Institute Australia Standards for the Conduct of Aboriginal Health Research, in striving towards best practice in Aboriginal pediatric dermatology research. It leads into The Koolungar (children) Moorditj (strong) Healthy Skin Project Part II manuscript, in which we present cross-sectional studies of Aboriginal children attending community skin screening weeks.

Trichotillomania (TTM) is a condition characterized by recurrent hair pulling, often resulting in hair loss and functional impairment. The disorder remains underreported in the pediatric population, despite high rates of psychiatric comorbidities. Moreover, diagnosing and treating TTM among children remains challenging due to a lack of standardized guidelines. Hence, this systematic review aims to evaluate the current treatment approaches for pediatric TTM. A comprehensive search was conducted of five databases, using the search concepts of trichotillomania, pediatric populations, and treatments/interventions. Studies were included if they (1) directly addressed the topic, (2) were of an appropriate study type (e.g., clinical trials, case-control studies, cohort studies, cross-sectional studies, or interview studies), (3) were published within the past 10 years, and (4) appeared in peer-reviewed journals published in English. Ultimately, 10 studies met our inclusion criteria, from which data were extracted and synthesized following formal quality assessment. Our results indicate that behavioral interventions, particularly habit reversal training, consistently demonstrated the greatest therapeutic benefit. Pharmacological treatments, including selective serotonin reuptake inhibitors, have been explored in various case series. Although some individuals have shown improvement, overall evidence remains insufficient to support pharmacotherapy as first-line. Alternative therapies, such as N-acetylcysteine, have also been studied, though findings are variable and require further investigation in pediatric cohorts. Our review underscores the importance of early behavioral intervention and the need for larger, controlled studies to inform standardized treatment protocols. Given the functional and psychosocial burden of TTM in youth, comprehensive management strategies are essential.

Mycoplasma pneumoniae is a common cause of community-acquired pneumonia in school-aged children. Various cutaneous reactions to M. pneumonia have been described, including reactive infectious mucocutaneous eruption, morbilliform eruptions, and vasculitis. This study highlights two cases of Mycoplasma infection that presented with a morbilliform eruption and had clinical and laboratory findings similar to drug reaction with eosinophilia and systemic symptoms (DRESS), a pattern not well documented in the literature, and emphasizes the clinical manifestations that help distinguish between these conditions.

Erosive lichen planus is a rare but severe variant of lichen planus with the potential for significant morbidity. We report a 7-year-old girl with complete vaginal stenosis secondary to erosive lichen planus. Early initiation of systemic corticosteroids and methotrexate resulted in complete resolution. This case underscores the importance of prompt recognition and aggressive management to prevent irreversible scarring.

Background/objectives: Lichen sclerosus (LS) is a chronic autoimmune inflammatory skin disease predominantly affecting the anogenital area that can be mistaken for non-accidental trauma (NAT) in pediatric patients, such as sexual abuse. Such misdiagnoses can be distressing for families. This systematic review examined pediatric patients investigated for both LS and NAT to provide clinicians with guidance on distinguishing these conditions.

Methods: MEDLINE, Embase, and Web of Science were searched. Retrospective studies, case series, and case reports describing pediatric patients investigated for both LS and NAT were included. Descriptive statistics were used to analyze data due to heterogeneity in study designs and reporting.

Results: Of 113 studies identified, 25 studies encompassing 146 patients were included. The suspected NAT was sexual abuse in all cases (N = 146). The final diagnosis was LS in 130 patients (89.0%), and LS and sexual abuse in 16 patients (11.0%). Patients who experienced sexual abuse often had known offenders in their families (n = 6/13) and displayed withdrawn or hypersexualized behavior (n = 2/13, unreported in n = 3/16), while those without abuse exhibited age-appropriate behavior (n = 8/41) and denied sexual abuse (n = 6/41) and demonstrated positive interactions with caregivers (n = 4/41, unreported in n = 89). On exam, hymenal disruption or scarring (n = 8/13) was more common in abused patients, whereas those without abuse typically lacked trauma to the hymen (n = 27/41) or anus (n = 10/41).

Conclusions: LS and sexual abuse may co-occur. Careful assessment of patient behaviors, home environment, and anogenital findings is crucial to avoid misdiagnoses that may be distressing for families. Limitations include small sample size, and lack of statistical comparisons.

A 15-year-old female with a longstanding, unresectable intracerebral arteriovenous malformation (AVM) involving the bilateral thalami and basal ganglia presented with progressive neurologic decline. Given the inaccessibility of the intracranial lesion, a lipomatous scalp nodule overlying the AVM was biopsied for molecular testing and revealed a somatic mosaic KRAS p.G12D variant, the most common variant detected in sporadic brain AVMs. Targeted therapy with the MEK inhibitor trametinib was initiated, but the treatment course was complicated by cutaneous toxicity and ongoing neurologic deterioration. This case illustrates that extracranial tissue in the skin can serve as a surrogate for molecular diagnosis in unresectable brain AVMs, underscoring the diagnostic and therapeutic importance of dermatologic assessment in complex vascular anomalies.

Psychiatric comorbidities associated with dermatological diseases, particularly in pediatric populations, are relatively understudied compared to psychiatric comorbidities of other chronic diseases. Research suggests that skin conditions in adolescence often co-occur with mental health difficulties, including heightened risk for suicide. Dermatologists play a vital role as early identifiers of suicidal thoughts and behaviors (STB) for their adolescent patients. Currently, there are no recommendations for screenings or assessments related to suicide risk in dermatologic settings. We provide evidence-based tools that can be helpful for STB assessment and highlight clinical pearls for increasing comfort when suicidal thoughts or behaviors occur in the pediatric dermatologist's office.