Pediatric Dermatology最新文献

Regional (segmental) infantile hemangioma (IH) can be associated with arterial anomalies, as seen in PHACE (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, and eye anomalies) and LUMBAR (lower body infantile hemangiomas, urogenital anomalies and ulceration, myelopathy, bony deformities, anorectal malformations and arterial anomalies, and rectal anomalies) associations. We describe two patients with a regional IH on the hand associated with Raynaud phenomenon. We hypothesize that Raynaud phenomenon in the setting of a regional IH may be due to post-traumatic vasospastic response, arterial anomalies, cutaneous atrophy due to the IH, and/or changes in vasomotor regulation.

Striae distensae, or stretch marks, are common dermal scars resulting from skin overstretching. This case series documents the occurrence of severe striae in three pediatric patients with nephrotic syndrome. This report details the clinical manifestations, including widespread and edematous striae, and explores potential etiological factors such as rapid skin stretching from edema and high-dose corticosteroid use underlying this association.

Primary cutaneous nocardiosis is a rare superficial skin infection typically affecting adults with soil exposure, trauma history, or immunosuppression. This case documents an unusual occurrence in a healthy 15-year-old girl with no known risk factors, who experienced relapse following a 5-week course of oral trimethoprim-sulfamethoxazole. The case highlights the diagnostic challenges of nocardiosis, including its nonspecific presentation and need for prolonged culture incubation, as well as the importance of an extended course of antibiotics to prevent relapse, even in immunocompetent patients.

Juvenile dermatomyositis (JDM) is a rare, idiopathic inflammatory myopathy of childhood and first-line therapy typically includes corticosteroids and immunosuppressive agents, but complete and sustained remission of the disease is not always achieved. This case report describes an 8-year-old girl with refractory JDM who failed multiple therapies, including corticosteroids, disease-modifying agents, and JAK inhibitors. After the introduction of anifrolumab, a monoclonal antibody targeting the type I interferon receptor, the patient experienced significant improvement in both skin and muscle symptoms. Her disease activity scores decreased markedly, and the response was sustained over six months with no adverse effects. This is the third reported case of JDM treated with anifrolumab, highlighting the potential of targeting the type 1 interferon pathway as a promising therapeutic strategy for patients with refractory disease. The case underscores the importance of IFN-I dysregulation in dermatomyositis and the value of blocking this pathway in difficult-to-treat cases.

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic condition typically presenting at birth with ichthyosiform erythroderma and bilateral hearing loss and later progressing to diffuse keratodermatous plaques with scaling. The condition is associated with mutations in the GJB2 gene, which lead to aberrant activation of connexin hemichannels in keratinocytes. While no targeted treatment currently exists, a previously published in vivo study demonstrated that flufenamic acid (FFA), a nonspecific connexin inhibitor, reduces epidermal pathology in transgenic mouse models expressing the lethal GJB2 mutation. Herein, we report the case of a 5-year-old boy with KID syndrome presenting with painful, persistent scalp lesions, which responded remarkably well to topical mefenamic acid, offering a potential novel therapy for managing this challenging condition.

Kaposiform hemangioendothelioma (KHE) is a rare vascular tumor that typically presents in infancy and may be associated with the Kasabach-Merritt phenomenon (KMP). We present a challenging case of multifocal KHE on the leg of an infant, initially suspected at birth to be a reticulate port wine birthmark. Skin biopsy and imaging supported the rare diagnosis of multifocal KHE. Complicated by KMP, he was started on sirolimus monotherapy with significant improvement in his widespread disease.

Introduction: Vitiligo is an autoimmune condition that causes depigmented skin patches, often leading to challenges such as stigma, bullying, and poor self-esteem in pediatric populations. These challenges may contribute to psychiatric comorbidities and impaired quality of life (QoL). Pediatric-specific data remain limited.

Objectives: To synthesize current evidence on psychiatric comorbidities and QoL outcomes in pediatric vitiligo and identify factors associated with increased psychosocial burden.

Methods: PubMed, Embase, and MEDLINE were systematically searched through March 15, 2025, for primary English-language studies involving patients aged 0-18 years with vitiligo and validated psychiatric or QoL outcomes. Study quality was assessed using Oxford Centre for Evidence-Based Medicine Levels of Evidence. Meta-analyses were performed where possible, with 95% confidence intervals and I ² for heterogeneity. Certainty of evidence was evaluated using the Grading of Recommendations, Assessment, Development, and Evaluation framework.

Results: Fourteen studies (n = 1576) were included. Pooled means for depression (CDI: 9.93) and anxiety scores (STAI-State: 37.07; STAI-Trait: 38.27) did not exceed thresholds for probable clinical diagnosis, though heterogeneity was considerable. Pooled means for QoL burden (CDLQI: 3.00; PedsQL: 80.55) suggested mild-to-moderate QoL impairment. Multiple individual comparative studies reported greater psychiatric symptom burden and higher prevalence of depression and anxiety among vitiligo patients versus controls. Subgroup findings from selected studies also suggested worse QoL in adolescents and those with extensive or visible lesions.

Conclusions: Pediatric vitiligo is associated with elevated psychiatric comorbidity prevalence, symptom burden, and mild-to-moderate QoL impairment among included studies. These findings highlight the need for clinicians to integrate psychosocial assessment into routine care. Current evidence further emphasizes incorporating routine mental health screening and multidisciplinary support into pediatric dermatology practice for children with vitiligo, although conclusions are restricted by limited and heterogeneous data.

Trichostasis spinulosa (TS) is a follicular disorder involving the retention of numerous hairs in a dilated follicle, primarily reported in adults. Drug-induced TS and pediatric TS are rarely described in the literature. We report a four-year-old female with an unusual presentation of TS localized in the groin and vulva. Interestingly, the patient's TS seemed to worsen with the introduction of clonidine for her autism spectrum disorder (ASD). The rash improved significantly once clonidine was held, and recurred when clonidine was re-started. This case highlights that TS should be considered in pediatric patients, even in atypical locations, and clonidine may exacerbate TS.

Trichothiodystrophy exhibits a broad clinical spectrum, and cases with an uncommon phenotype can go unnoticed, complicating the diagnosis. We present the second case of type 9 non-photosensitive trichothiodystrophy caused by a homozygous variant in the MARS1 gene. It presented with atypical features, including long hair, normal hair density of eyebrows and eyelashes, and precocious puberty.

Congenital vascular malformations associated with segmental overgrowth and PIK3CA variants are well-documented and are classified within the PIK3CA-related overgrowth spectrum (PROS), yet PIK3CA-associated segmental undergrowth is a less understood entity. We present a case of a patient with a capillary venous malformation (CVM) and limb undergrowth associated with a pathogenic PIK3CA variant (p.Glu453Lys). An updated classification system should be considered to more broadly encompass variable phenotypic presentations of PIK3CA-related disorders, including segmental undergrowth. We propose novel terminology such as PIK3CA-related altered growth spectrum (PRAGS).