Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome. STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

Atypical cutaneous manifestations of methicillin resistant Staphylococcus aureus infections in two immunocompetent pediatric patients: Case reports and review of the literature.

Although many clinical variants of Staphylococcus aureus infection are well-recognized, atypical presentations may mimic other conditions. We describe two cases of atypical S. aureus infections in pediatric patients: a S. aureus infection presenting with a vesicopustular rash mimicking varicella zoster virus and a case of multifocal panniculitis. Both of these cases were specifically caused by methicillin-resistant S. aureus (MRSA). Additional cases of atypical S. aureus infections and presenting features from the current literature are also discussed.

Rubella virus-associated necrotizing granulomatous inflammation with extensive eyelid, ocular, and orbital involvement.

We present a case of cutaneous granulomatous disease associated with rubella virus in a 4-year-old girl without an identifiable immunodeficiency. In this case, a combination of anti-inflammatory, anti-viral, and anti-neutrophil therapies successfully treated vision-threatening eyelid, conjunctival, scleral, and orbital inflammation.

Toxic epidermal necrolysis-like acute graft-versus-host disease in pediatric bone marrow transplant patients: Case series and review of the literature.

BACKGROUND/OBJECTIVES: Complications of hematopoietic stem cell transplant (HSCT) include acute graft-versus-host disease (aGVHD). Severe cutaneous aGVHD can present with generalized erythroderma, desquamation, and bullae which can mimic toxic epidermal necrolysis (TEN). TEN occurs in response to a culprit medication. Transplant patients are often on many medications, making it difficult to distinguish between the two conditions. Given that TEN-like aGVHD is rare, we describe a case series of pediatric patients and review the literature. METHODS: This is a multi-institutional case series of children who developed TEN-like aGVHD following bone marrow transplantation. Demographic, clinical, and treatment information was collected. RESULTS: Ten patients were identified. Median age at transplantation was 8.5 years (range 0.12-17 years). Median time from transplant to first skin symptoms was 35 days (range 6-110 days) and to first TEN-like symptoms was 40 days (range 16-116 days). 7/10 had other organ GVHD involvement. All patients were on concurrent medications at time of first skin symptoms including immunosuppression for GVHD prophylaxis, infection prophylaxis or treatment, and pain medication. Treatments for TEN-like aGVHD included immunosuppression. CONCLUSIONS: We observe that patients with > or equal to 50% BSA involvement of their skin with TEN-like aGVHD, extracutaneous GVHD, and lack of reepithelization tend to have poor outcomes. Given the rarity of this condition, multidisciplinary care of these patients is important for accurate and timely diagnosis and treatment.

Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes.

Epidermolysis bullosa (EB) encompasses a phenotypically and genetically heterogeneous group of inherited skin disorders characterized by blistering and erosions of the skin with minimal trauma. Dystrophic EB (DEB), both dominant and recessive, can be associated with several extracutaneous manifestations, including musculoskeletal deformities. Congenital deformities of the feet have rarely been reported in the literature. We describe an infant with dominant DEB and congenital absence of the skin who presented with congenital brachydactyly of the bilateral great toes.

Laboratory monitoring during treatment of onychomycosis in pediatric patients: A survey of provider perspectives and practices.

BACKGROUND/OBJECTIVES: Literature regarding the cost and necessity of laboratory monitoring during oral antifungal treatment in adults has recently been published. However, consensus guidelines for the treatment and monitoring of pediatric patients with systemic antifungals for onychomycosis are lacking. We sought to evaluate both the practice trends and perspectives of pediatric dermatology providers who treat pediatric onychomycosis. METHODS: An electronic survey was administered to providers belonging to the Society for Pediatric Dermatology (SPD) and/or Pediatric Dermatology Research Alliance (PeDRA) regarding their clinical practice and reasoning for laboratory monitoring during the treatment of pediatric onychomycosis. RESULTS: One hundred and twenty-one providers completed the survey (12.5%). 77% identified themselves as pediatric dermatologists. A majority practice in the academic setting (51%), and 54% were primarily only pediatric providers. All respondents prescribe oral terbinafine for onychomycosis. 88% of respondents always or almost always confirm the diagnosis of onychomycosis prior to prescribing oral terbinafine for onychomycosis. 39% always or almost always routinely order baseline laboratory tests while 40% never or almost never do. 41% never or almost never order monitoring laboratory tests during treatment while 32% always or almost always do. 91.5% have never discovered a significant reaction to terbinafine with routine monitoring. CONCLUSION: Pediatric dermatology providers are very likely to confirm the diagnosis of onychomycosis prior to systemic treatment. Significant variability was found in pretreatment and treatment laboratory monitoring, reasons for laboratory monitoring or deferral of testing, and timing of testing among providers. Knowledge of current practice trends as well as provider perspectives may be useful in the future development of consensus guidelines.

Measuring the impact of clinical practice guidelines on infantile hemangioma referrals.

High-risk infantile hemangiomas may be associated with significant patient comorbidity. The American Academy of Pediatrics published clinical practice guidelines with recommendations to refer high-risk hemangiomas early. The results of this study suggest that these guidelines may have resulted in an earlier referral age of patients with high-risk IH to hemangioma specialists.

Folliculotropic mycosis fungoides driven by DOCK8 immunodeficiency syndrome.

DOCK8 immunodeficiency syndrome (DIDS) represents a rare primary immunodeficiency associated with cutaneous viral infections, allergy, and increased risk of malignancy. We report a case of folliculotropic mycosis fungoides with spontaneous resolution occurring in a patient with DIDS.

A survey in uncharted territory: A collaborative study to explore the approach to atopic dermatitis patient management in allopathy and naturopathy.

BACKGROUND: Atopic dermatitis (AD) patients frequently use both conventional and complementary medicines for treatment. Allopathic and naturopathic providers may be unaware of each other's approach to AD diagnosis, skin care, and treatment, affecting patient and provider communication, patient safety, and potential for collaborative studies. OBJECTIVE: To identify core commonalities and differences in allopathic and naturopathic approach to AD. METHODS: Thirty allopathic and 21 naturopathic providers completed an 11-question free-text comment survey, covering patient education and evaluation, skin care, and treatment of AD. Qualitative content analysis detected key ideas and concepts, and word cloud analysis provided a quantitative visual representation of recurrent words in each group's responses. RESULTS: All respondents indicated using similar physical features to diagnose AD. In both allopathic and naturopathic fields, the majority of providers did not perform routine testing for AD diagnosis. Skin care with moisturization and "soak-and-seal" bathing practices were routine in both fields. Naturopathic providers heavily emphasized the role of food and diet in AD pathogenesis, education, and management, while allopathic providers indicated little to no role for food and diet in AD. For treatment, allopathic providers favored topical steroids, phototherapy, and immunomodulators, whereas naturopathic providers recommended botanicals, supplements, and other complementary and alternative methods. CONCLUSIONS: Providers should be aware of the differences between allopathic and naturopathic providers and their approach to AD management, particularly concerning the role of food and diet. There may be opportunities to harmonize skin care regimens for patients given similar approach in both fields, and to collaborate further on studies of diet in AD and treatments not yet effectively tested.

Trichodysplasia spinulosa mimicking lichen nitidus in a renal transplant patient.

Trichodysplasia spinulosa (TS) is a rare cutaneous condition associated with the TSPyV and characterized by skin-colored, folliculocentric papules with keratin spicule formation. TS is seen almost exclusively in immunosuppressed individuals, often presenting in patients with a history of solid organ transplantation or chemotherapy for a lymphoreticular malignancy. We report a case of widespread TS in a 9-year-old girl with a history of renal transplantation complicated by BK viremia, which is also caused by a polyomavirus, BKPyV. The clinical presentation of TS in this case morphologically resembled the more common, harmless skin condition known as "lichen nitidus," and was more extensive than expected for TS, creating a diagnostic challenge. This case illustrates an important presentation of severe TS of which transplant teams, oncologists, primary care providers, and dermatologists should be aware.

Foot allergic contact dermatitis to mixed dialkyl thioureas.

A 12-year-old boy presented with severe, bilateral foot dermatitis. Extended patch testing was performed, revealing a significant positive reaction to mixed dialkyl thioureas. A thorough review of his history revealed that he was likely being exposed through his neoprene taekwondo shoes. After implementation of allergen avoidance measures, his dermatitis resolved. This case emphasizes awareness of potential allergen exposures and offers helpful avoidance strategies.

Agminated flexural melanocytic nevi: a late sequela of Langerhans cell histiocytosis?

Agminated flexural melanocytic nevi in children with a history of Langerhans cell histiocytosis (LCH) are rare and thought to be coincidental or related to systemic chemotherapy. We report on an 11-year-old boy in remission from LCH, treated with only topical steroids, who presented years later with an eruption of melanocytic nevi in the bilateral inguinal and axillary regions. Rather than coincidence, we hypothesize that agminated flexural melanocytic nevi are a late sequela of LCH, possibly resulting from immune tolerance or a reaction to local inflammation.

Stigmatization and Mental Health Impact of Chronic Pediatric Skin Disorders.

Importance: Chronic skin disorders in children frequently are visible and can cause stigmatization. However, the extent of stigmatization from chronic skin disease and association with mental health needs further study. Objective: To examine the extent of stigma, dependence on disease visibility and severity, and association with mental health and quality of life (QOL) in chronic pediatric skin disease. Design, Setting, and Participants: A cross-sectional, single-visit study was conducted at 32 pediatric dermatology centers in the US and Canada from November 14, 2018, to November 17, 2021. Participants included patients aged 8 to 17 years with chronic skin disease and 1 parent. Main Outcomes and Measures: Using the Patient-Reported Outcomes Measurement Instrumentation System (PROMIS) Stigma-Skin, the extent of stigma with child-, caregiver-, and physician-assessed disease visibility (primary outcome) and severity was compared, as well as reduced QOL (assessed by Skindex-Teen), depression, anxiety, and poor peer relationships (PROMIS child and proxy tools) (secondary outcomes). Results: The study included 1671 children (57.9% female; mean [SD] age, 13.7 [2.7] years). A total of 56.4% participants had self-reported high disease visibility and 50.5% had moderate disease severity. Stigma scores significantly differed by level of physician-assessed and child/proxy-assessed disease visibility and severity. Among children with chronic skin disorders, predominantly acne, atopic dermatitis, alopecia areata, and vitiligo, only 27.0% had T scores less than 40 (minimal or no stigma) and 43.8% had at least moderate stigma (T score ≥45) compared with children with a range of chronic diseases. Stigma scores correlated strongly with reduced QOL (Spearman ρ = 0.73), depression (ρ = 0.61), anxiety (ρ = 0.54), and poor peer relationships (ρ = -0.49). Overall, 29.4% of parents were aware of bullying of their child, which was strongly associated with stigma (Cohen d = -0.79, with children who were not bullied experiencing lower levels of stigma). Girls reported more stigma than boys (Cohen d = 0.26). Children with hyperhidrosis and hidradenitis suppurativa were most likely to have increased depression and anxiety. Conclusions and Relevance: The findings of this study suggest that physician assessment of disease severity and visibility is insufficient to evaluate the disease impact in the patient/caregiver. Identifying stigmatization, including bullying, and tracking improvement through medical and psychosocial interventions may be a key role for practitioners.

Collodion baby: an update with a focus on practical management.

Collodion baby is an uncommon clinical presentation of several genetic conditions, primarily disorders of cornification. The severely compromised epidermal barrier presents the greatest challenge during the newborn period and advances in neonatal care have significantly improved the prognosis. This review summarizes the clinical characteristics, complications, outcomes, and differential diagnosis of the collodion baby. A practical approach to management based on the literature and clinical experience is presented.