Pediatric dermatology has historically seen a shortage of dermatologists relative to demand, leading to limited access for patients, which is amplified in underserved communities. Telemedicine has emerged as an attractive means to supplement clinical care and a tool that may assist in overcoming many of the barriers present in pediatric dermatology. Studies have found that teledermatology increases access to care, decreases wait-times and provides cost savings for patients and health care systems, all while maintaining high patient and provider satisfaction. Despite limitations, telemedicine remains a powerful resource with the ability to expand access to pediatric dermatologists.

STING-associated vasculopathy with onset in infancy (SAVI) is a rare, monogenic interferonopathy caused by gain-of-function variants in STING1 (TMEM173) characterized by systemic inflammation, cutaneous vasculopathy, and interstitial lung disease. We report a case of SAVI attributed to a novel STING1 p.R284T variant who demonstrated characteristic cutaneous features including telangiectasias, livedo and acrocyanotic changes on face and extremities, as well as saddle nose deformity, failure to thrive, inflammatory arthritis and notable lack of pulmonary disease or autoantibody positivity. Due to the risk for progressive and irreversible lung and tissue damage and evolving therapeutic landscape involving the use of Janus kinase inhibitors, it is critical to recognize variable clinical phenotypes to diagnose and consider treatment options for SAVI patients early in their disease course.

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.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder caused by somatic FGFR1 and KRAS variants. It shares significant phenotypic overlap with several closely related disorders caused by mutations in the RAS-MAPK pathway (mosaic RASopathies). We report a diagnostically challenging case of ECCL in which next-generation sequencing of affected tissue identified a pathologic FGFR1 p.K656E variant, thereby establishing a molecular diagnosis. Patients with FGFR1-associated ECCL carry a risk of developing malignant brain tumors; thus, genetic testing of patients with suspected ECCL has important management implications.

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.

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.

Cutis verticis gyrata (CVG), characterized by cerebriform overgrowth of the scalp, is rarely observed in congenital melanocytic nevi (CMN). We describe a 13-year-old male with autism and a large CMN of the scalp with numerous satellite nevi whose scalp nevus exhibited evolution with poliosis and CVG. Given the potential association of CVG (independent of CMN) with seizures, neuropsychiatric, and ophthalmologic disorders, and nevus-associated CVG (cerebriform intradermal nevus) with melanoma, multidisciplinary evaluation of CMN patients with CVG is important to guide management and treatment.

To the Editor: The 2020 World Health Organization (WHO) classification of soft tissue tumors classifies myofibromas as pericytic (perivascular) tumors.1 These tumors account for roughly 12%of pediatric soft tissue neoplasms.2 Diagnosis of myofibromatosis is challenging due to significant morphologic and immunohistopathologic overlap with related entities. However, as illustrated by the following case, diagnostic precision has therapeutic and prognostic implications. A 2-day-old infant presented with a periorbital mass detected first on 30-week prenatal ultrasonography. Physical examination revealed a 3 × 2.5-cm pedunculated violaceous, centrally dark nodule on the right lateral nasal sidewall, cheek, and periorbital region, which abutted the medial canthus and obstructed the nasal passageway due to mass effect (Figure 1A). Doppler ultrasound was negative for fast flow. Magnetic resonance imaging (MRI) showed a well-defined, avidly enhancing mass without extension into the nasal deep tissues and a 0.8× 0.6× 0.4-cm lesion juxtaposed to the cerebellum. The facial mass was excised (Figure 1B), and histopathology was consistent with an infantile myofibroma (Figure 2). Family history revealed the patient’s father had biopsy-proven congenital myofibromatosis. Our patient’s germline testing of PDGFRB and NOTCH3 revealed a pathogenic activating variant in PDGFRB c.1681C>T (p.R561C). Sequencing of tumor tissue employing a 447 cancer gene panel3 revealed the same pathogenic variant identified on germline testing, together with an additional pathogenic activating4 mutation in PDGFRB c.1997A>G (p.N666S) (20% of 205 reads). Subsequent whole-body MRI revealed multiple soft tissue and osseous lesions at the base of the tongue, iliac bone, intercostal spaces, and paraspinal region, including a C3 spinal lesion with compression of the dorsal cord. Follow-up dedicated brainMRI demonstrated enlargement of the lesion abutting the cerebellumwith increased mass effect. At 4months, the patient also developed palpable subcutaneous lesions of the left shoulder, sternum, and right mid-abdomen regions. Treatment with imatinib, a tyrosine kinase inhibitor, was initiated and was tolerated without toxicities. After 3 months of therapy, the cerebellar and cervical spinal lesions decreased in size without interval development of any additional brain, extra-axial, soft tissue, or cervicocranial lesions. Of note, the patient developed asymptomatic pineal gland enlargement. Infantile myofibromatosis (IM) exists as three sporadic or familial subtypes: solitary, multicentric, and generalized. Familial cases are autosomal dominant and caused by germline activating variants in PDGFRB and, rarely,NOTCH3.5,6 Most patientswith familial IM present with early-onset multicentric lesions; however, decreased penetrance

BACKGROUND:Pediatric melanoma presents with distinct clinical features compared to adult disease. OBJECTIVE:Characterize risk factors and negative outcomes in pediatric melanoma. METHODS:Multicenter retrospective study of patients under 20 years diagnosed with melanoma between January 1, 1995 and June 30, 2015 from 11 academic medical centers. RESULTS:Melanoma was diagnosed in 317 patients, 73% of whom were diagnosed in adolescence (age ≥11). Spitzoid (31%) and superficial spreading (26%) subtypes were most common and 11% of cases arose from congenital nevi. Sentinel lymph node biopsy was performed in 68% of cases and positive in 46%. Fatality was observed in 7% of cases. Adolescent patients with melanoma were more likely to have family history of melanoma (P = .046) compared to controls. LIMITATIONS:Retrospective nature, cohort size, control selection, and potential referral bias. CONCLUSION:Pediatric melanoma has diverse clinical presentations. Better understanding of these cases and outcomes may facilitate improved risk stratification of pediatric melanoma.

Raynaud's phenomenon describes symptoms caused by digital vascular spasm and is classically induced by cold exposure. Severe cases can result in ulceration, necrosis, and digital autoamputation. When standard and adjunctive medical therapies fail or are contraindicated, botulinum toxin A (BTX-A) is an effective treatment option that can be added to existing regimens and should be considered before utilizing rescue therapies associated with higher risk and often higher cost. This report describes our technique, highlights considerations relevant to pediatric patients, and provides photos and videos of the procedure performed on a 16-year-old girl.

To the Editor: Pyogenic granulomas (PG) are common benign vascular proliferations of the skin and mucous membranes. Because of their propensity to grow and bleed, surgical management is favored, but it can be costly, traumatic, result in scarring, or require an in-office or operative suite setting. Noninvasive treatment modalities include topical beta-blockers,1Wine Lee L. Goff K.L. Lam J.M. Low D.W. Yan A.C. Castelo-Soccio L. Treatment of pediatric pyogenic granulomas using β-adrenergic receptor antagonists.Pediatr Dermatol. 2014; 31: 203-207Google Scholar imiquimod,2Tritton S.M. Smith S. Wong L.C. Zagarella S. Fischer G. Pyogenic granuloma in ten children treated with topical imiquimod.Pediatr Dermatol. 2009; 26: 269-272Google Scholar and corticosteroids.3Moustafa D. Neale H. Ostrowski S.M. Gellis S.E. Hawryluk E.B. Topical corticosteroids for noninvasive treatment of pyogenic granulomas.Pediatr Dermatol. 2021; 38: 149-151Google Scholar By promoting vasoconstriction and downregulating proangiogenic factors such as vascular endothelial growth factor A, matrix metalloproteinase 1, and interleukin 6, topical corticosteroids potentially target several key pathways implicated in the PG pathogenesis.4Greenberger S. Boscolo E. Adini I. Mulliken J.B. Bischoff J. Corticosteroid suppression of VEGF-A in infantile hemangioma-derived stem cells.N Engl J Med. 2010; 362: 1005-1013Google Scholar,5Yuan K. Jin Y.T. Lin M.T. The detection and comparison of angiogenesis-associated factors in pyogenic granuloma by immunohistochemistry.J Periodontol. 2000; 71: 701-709Google Scholar Here, we expand the limited data supporting the use and efficacy of high potency topical corticosteroids for the treatment of PG and analyze the use of topical and procedural interventions. Following IRB approval, data were collected retrospectively using the International Statistical Classification of Diseases, Tenth Revision code L98.0 for patients diagnosed with PG at the Boston Children's Hospital from January 1, 2019, to September 13, 2021. Cases with incongruent biopsy results or without follow-up were excluded. Data including demographics, treatment, complications, clinical characteristics, and outcomes were recorded. Statistical analyses were completed using STATA. Statistical significance was set to P < .05. Ninety-eight patients were included (mean age, 9.8 years; range, 0.5-22 years) (Table I). Sixty-three patients were managed surgically; 50 with in-office shave removal plus electrocautery and 13 with excision. Regrowth occurred after shave removal in 4 patients and 1 patient on filgrastim (with >50 eruptive PG) after excision (Table II). Surgical site infection occurred in 1 patient; 4 patients followed up with concerns about their scar after the procedure.Table IPatient demographics and pyogenic granuloma characteristicsPatient demographicsTotal (N = 98)Surgically managed (N = 63)Topically managed (N = 35)P value∗Two-sided t test was performed for continuous variables and χ2 test for categorical variables. Significance was set at P < .05.Female, n (%)33 (34%)23 (37%)10 (29%).635Male, n (%)65 (66%)40 (63%)25 (71%).635Age, mean (median), range, y9.8 (11), 0.5-2210.9 (12), 1-228.0 (5), 0.5-22.013History of immunosuppression, n (%)†Intrinsic or secondary to systemic medical therapy.11 (11%)7 (11%)4 (11%).962PG characteristics Duration of lesion before presentation, mean (median), d123 (60)90 (60)149 (60).0863 History of bleeding/ulceration, n (%)79 (80%)53 (84%)26 (74%).238 History of known local trauma, n (%)6 (6%)4 (6%)2 (6%).900 Size, mean (median) ± SD, mm‡N = 79.5.3 (5) ± 3.76.3 (6) ± 4.13.7 (4) ± 1.8.0006PG Distribution, n (%)§For patients with >1 lesion, each area of involvement was counted individually. Head and neck67 (68%)40 (63%)27 (77%).164 Trunk21 (21%)15 (24%)6 (17%).204 Upper extremity6 (6%)3 (5%)3 (9%).451 Lower extremity7 (7%)4 (6%)3 (9%).682PG, Pyogenic granuloma.∗ Two-sided t test was performed for continuous variables and χ2 test for categorical variables. Significance was set at P < .05.† Intrinsic or secondary to systemic medical therapy.‡ N = 79.§ For patients with >1 lesion, each area of involvement was counted individually. Open table in a new tab Table IIPatient demographics, pyogenic granuloma characteristics, and clinical outcomes by treatment modalityTreatmentShave removal + electrocauteryExcisionTopical timolol aloneTopical corticosteroid aloneTopical timolol + topical corticosteroid∗Treated with both modalities either simultaneously or sequentially.N (% of total)50 (51)13 (13)16 (16)14 (14)5 (5)Age, mean (median), y11.4 (12)9 (9)8 (5)9.7 (7.5)3 (2)PG size, mean (median), mm6.2 (6)6.6 (6)3.5 (3)3.9 (4)4.75 (4)Resolution/regression, n (%)46 (92)12 (92)8 (50)7 (50)3 (60)No change/regrowth, n (%)4 (8)1 (8)8 (50)7 (50)2 (40)Subsequent excision pursued, n (%)1 (0.5)0 (0)9 (56)6 (43)3 (60)Median duration of treatment, wkN/AN/A655PG, Pyogenic granuloma.∗ Treated with both modalities either simultaneously or sequentially. Open table in a new tab PG, Pyogenic granuloma. PG, Pyogenic granuloma. Thirty-five patients were treated noninvasively; 31 on initial presentation and 4 after initial procedural intervention. Patients who were managed topically were younger (P = .013), and their PG size was smaller (P = .006) (Table II). Fourteen patients received a class I topical corticosteroid (clobetasol [86%], halobetasol [7%], and betamethasone [7%]) alone, applied twice daily under occlusion for a median of 5 weeks (range, 5 days-2 years). Sixteen patients received topical timolol (0.5% ophthalmic gel-forming solution) alone for a median of 6 weeks (range, 8 days-1.6 years). Partial or complete resolution with topical timolol or topical corticosteroid was 50%. Patients managed with topical corticosteroid versus topical timolol underwent subsequent excision in 43% and 56% of cases, respectively (P = .464). Five patients were treated with both topical modalities (Table II). Lesions ≤4 mm responded favorably to the topical therapy. No adverse effects of topical therapy were reported. There are no standard guidelines for the management of PG. However, both topical corticosteroids and timolol have excellent safety profiles and are widely used for numerous pediatric skin conditions. Noninvasive management may be favored for younger patients, poor surgical candidates, those with eruptive lesions, or those with small lesions in cosmetically sensitive areas. The COVID-19 pandemic exacerbated barriers in access to care and minimized in-person appointments for many specialties; thus, topical treatment may benefit patients with limited access to live care or those awaiting procedural intervention. Additionally, topical treatment is less suitable for actively bleeding PG, lesions with unclear diagnosis, or patients seeking a rapid cure. Patients and parents should be counseled that topical therapy may not work, and that they may elect to pursue excision later. Topical treatment may be continued as long as improvement is noted; if PG fails to improve, or if adverse effects are noted, an alternative topical agent or procedure may be pursued. Lesions that exhibit concerning features should be evaluated and may require a biopsy as infectious, malignant, or other vasoproliferative lesions remain on the differential. In this study, patients were not randomized to treatment modalities; thus, the success of the topical treatment is impacted by selection bias whereby experienced clinicians selected patients most amenable to the topical treatment. Although limited by its retrospective design, small sample size, and the use of a single center, our study supports a potential role for the topical management of PG. None disclosed.

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.

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.

From the ∗Dermatology Section, Division of Immunology, Boston Children's Hospital, Harvard Medical School †Tufts University School of Medicine ‡Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA. Address reprint requests to JiaDe Yu, MD, Department of Dermatology, Massachusetts General Hospital, 50 Staniford St, Boston, MA 02114. E-mail: [email protected]. The authors have no funding or conflicts of interest to declare.

PURPOSE OF REVIEW:To identify factors that impact accessibility to pediatric dermatology and review healthcare delivery models that improve access and address these barriers.RECENT FINDINGS:Up 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.SUMMARY:Despite 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: At one time considered opposing diseases, it is now recognized that atopic dermatitis (AD) and psoriasis can coexist. There are limited data characterizing this population of patients. In this study, we characterize the population of patients diagnosed with both AD and psoriasis and summarize their response to therapy. Methods: A retrospective chart review was performed and data was recorded for patients with a diagnosis of psoriasis (n = 1390), AD (n = 912) and psoriasis plus AD (n = 30) within the Tufts Medical Center Department of Dermatology between January 1, 2012 and May 1, 2019. Results: The prevalence of concomitant AD and psoriasis was 1.5%. Of those with both AD and psoriasis, hand involvement was high (63%). Systemic therapy was used in 73% of patients. Of those on biologics, 30% required more than one biologic consecutively and 22% required more than one biologic simultaneously to achieve clinically significant results. Conclusion: Patients with overlapping AD and psoriasis have a high prevalence of hand involvement, poor response to topical therapy, and may require multiple systemic agents to treat. In a patient with known history of psoriasis with recalcitrant hand disease involvement, AD should be considered.