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Restrictive dermopathy (RD) is a rare and lethal laminopathy caused by mutations in LMNA or ZMPSTE24. This series reports 3 patients with RD and reviews the literature of the 113 previously reported cases, including highlights of the unique constellation of clinical findings in RD, as well as histologic, radiographic, and genetic features. Early recognition of these characteristic features is vital to establish a prompt diagnosis and provide adequate family counseling for this terminal condition.

Retrospective chart review was conducted to identify the clinical features of Henoch Schonlein purpura (HSP) in five children with inflammatory bowel disease (IBD). All five children, four of which were on anti-TNF therapies, experienced the onset of HSP after their IBD diagnosis. HSP averaged 20.8 months in duration. The patients in our cohort, particularly those on anti-TNF therapy for inflammatory bowel disease, experienced chronic and recurrent courses of HSP.

Background Pediatric melanoma is rare and diagnostically challenging. Objective To characterize clinical and histopathologic features of fatal pediatric melanomas. Methods Multicenter retrospective study of fatal melanoma cases in patients younger than 20 years diagnosed between 1994 and 2017. Results Of 38 cases of fatal pediatric melanoma identified, 57% presented in white patients and 19% in Hispanic patients. The average age at diagnosis was 12.7 years (range, 0.0-19.9 y), and the average age at death was 15.6 years (range, 1.2-26.2 y). Among cases with known identifiable subtypes, 50% were nodular (8/16), 31% were superficial spreading (5/16), and 19% were spitzoid melanoma (3/16). One fourth (10/38) of melanomas arose in association with congenital melanocytic nevi. Limitations Retrospective nature, cohort size, and potential referral bias. Conclusions Pediatric melanoma can be fatal in diverse clinical presentations, including a striking prevalence of Hispanic patients compared to adult disease, and with a range of clinical subtypes, although no fatal cases of spitzoid melanoma were diagnosed during childhood.

The newest World Health Organization classification of skin tumors suggests the elimination of cases with BRAF and NRAS mutations from the categories of Spitz tumors (ST) and Spitz melanoma (SM). The objective of this study is to better characterize the genomics of Spitz neoplasms and assess whether the integration of genomic data with morphologic diagnosis improves classification and prognostication. We performed DNA and RNA sequencing on 80 STs, 26 SMs, and 22 melanomas with Spitzoid features (MSF). Next-generation sequencing data were used to reclassify tumors by moving BRAF and/or NRAS mutated cases to MSF. In total, 81% of STs harbored kinase fusions and/or truncations. Of SMs, 77% had fusions and/or truncations with eight involving MAP3K8. Previously unreported fusions identified were MYO5A-FGFR1, MYO5A-ERBB4, and PRKDC-CTNNB1. The majority of MSFs (84%) had BRAF, NRAS, or NF1 mutations, and 62% had TERT promoter mutations. Only after reclassification, the following was observed: (i) mRNA expression showed distinct clustering of MSF, (ii) six of seven cases with recurrence and all distant metastases were of MSFs, (iii) recurrence-free survival was worse in MSF than in the ST and SM groups (P = 0.0073); and (iv) classification incorporating genomic data was highly predictive of recurrence (OR 13.20, P = 0.0197). The majority of STs and SMs have kinase fusions as primary initiating genomic events. The elimination of BRAF and/or NRAS mutated neoplasms from these categories results in the improved classification and prognostication of melanocytic neoplasms with Spitzoid cytomorphology.

Background Data regarding the course and treatment of pigmented purpuric dermatoses (PPD) in the paediatric population are limited. Although treatments for pigmented purpura are not well established, vitamin C and rutoside have been reported to be an effective treatment option and are widely utilized. Objective To assess the clinical course and utility of vitamin C and rutoside in paediatric patients with PPD treated at Ann & Robert H. Lurie Children's Hospital of Chicago between 2008 and 2018. Methods A retrospective review of all children with PPD managed at our hospital between 2008 and 2018 was performed. Additional follow-up was obtained via telephone interviews. Results A total of 101 patients met inclusion criteria. The female: male ratio was 1.3 : 1, and the median age at diagnosis was 8.8 years (IQR, 5.7-12.9). Median follow-up was 7.13 months (IQR, 3-17.4). The most common PPD subtypes were lichen aureus (43%) and Schamberg (34%). Fifty-three (52%) patients had evaluable follow-up documentation via their medical record or phone questionnaire. Twenty-eight patients were treated with vitamin C or rutoside or combination therapy. Twenty-five patients received no treatment. Clearance of the rash was noted in 24 (45.3%) patients overall, including 10 (42%) patients in the treated group and 14 (58%) patients in the untreated group. Recurrence was noted in seven (13.2%) patients. Treatment with vitamin C and/or rutoside was well tolerated without side effects. None of the patients were subsequently diagnosed with vasculitis, coagulopathy or cutaneous T-cell lymphoma. Conclusion Pigmented purpuric dermatosis in children is a benign disorder with high rates of complete resolution. Treatment with vitamin C and rutoside is well tolerated, but in this cohort, there did not appear to be an advantage over watchful waiting without therapy.

A pediatric dermatology expert working group performed a narrative review to describe care related to congenital melanocytic nevi (CMN) in neonates and infants. There are no published guidelines for most aspects of care, including routine skin care and visit intervals. Few guidelines exist for surgical management; newer recommendations favor conservative practice. Emerging evidence contributes to recommendations for screening MRI to evaluate for neural melanosis and related central nervous system complications, however, more research is needed. Risk for melanoma is generally low, but those with large, giant, or multiple CMN have a higher risk. Multidisciplinary care, with a focus on family and patient preferences, is of paramount importance. Without standardized screening and management guidelines, questions abound regarding appropriate physical examination intervals, potential treatment including full or partial excision, timing and frequency of imaging, melanoma risk, and assessment for neural melanosis. This review highlights the current state of knowledge concerning care of patients with CMN, reveals gaps in the literature surrounding skin care, and provides management recommendations. We additionally discuss cutaneous complications of CMN, such as pruritus, hypertrichosis, and wound healing. Resources and references for families and providers can help patients navigate this sometimes challenging diagnosis. Finally, we contribute expert care recommendations to the current body of literature as a foundation for the development of future, more comprehensive care guidelines.

Many supplements and products containing botanical extracts are marketed to patients for the treatment of acne vulgaris. Additionally, increasing attention has been paid to the role of diet in acne vulgaris. Studies on this topic including pediatric patients are limited, with variable efficacy data. Despite these limitations, knowledge of alternative therapies in pediatric acne vulgaris is often expected from pediatric dermatologists. Here we review available data on the efficacy of complementary and alternative medicines for treatment of acne in pediatric patients, focusing on topical, oral, and dietary modifications.

Background: Pediatric skin disorders can affect children’s self-esteem, relationships with caregivers and peers, and performance in school and activities. Objective: This review describes common pediatric congenital and acquired dermatologic disorders and the impact that these disorders can have on children’s self-esteem. Methods: A review of current, English-language literature was conducted with use of the PubMed database. Search terms included atopic dermatitis, acne, infantile hemangiomas, port wine stains, congenital melanocytic nevi, hidradenitis suppurativa, and self-esteem. Results: During infancy and toddlerhood, skin disorders such as infantile hemangiomas primarily affect the attachment between child and caregiver. School-aged children with port wine stains and atopic dermatitis report increased bullying, teasing, and social isolation. Acne and hidradenitis typically affect older children and teens and these conditions are associated with increased risks of depression and suicidal ideation. Effective management of these conditions has been shown to increase patients’ self-esteem. Conclusion: Pediatric dermatologic disorders impact self-esteem throughout childhood. In addition to the surgical and medical management of these disorders, clinicians can also take an active role in the assessment and improvement of the psychosocial impact of these skin disorders. Keywords: self-esteem, port wine stain, infantile hemangioma, congenital melanocytic nevus, acne, hidradenitis suppurativa, atopic dermatitis

Background/objectives Cutaneous juvenile xanthogranuloma is an uncommon, usually benign disease affecting infants and young children. Ocular and other systemic involvement have been reported, but their incidence is unclear, and the utility of routine screening is not well established. Our aim was to characterize the risk of ocular and systemic complications in children with cutaneous juvenile xanthogranuloma. Methods In this retrospective study, we reviewed the medical charts of children with cutaneous juvenile xanthogranuloma seen at Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois, between January 2000 and December 2015. A comprehensive literature review was also performed. Results Of 338 children with cutaneous juvenile xanthogranuloma, 76 (median age 6 months, 51% female) met inclusion criteria. The most frequently involved site was the head and neck region (40%). In 39 patients (51%), there was a single lesion. Multiple lesions (>5) were evident in 20 patients (26%). Most cutaneous juvenile xanthogranulomas were micronodular (77%). None of the patients had ocular involvement. One patient had multiple asymptomatic hepatic nodules on imaging that regressed spontaneously within several months. Literature review of pediatric cutaneous juvenile xanthogranuloma series, including our cohort, revealed that the incidence of ocular manifestations is 0.24% (7/2949) and of systemic manifestations is 0.75% (22/2949). Conclusion Cutaneous juvenile xanthogranulomas are generally limited to the skin. Because eye involvement is rare, a routine eye examination is of low yield and probably not warranted in children with no ocular or visual symptoms. New recommendations for systemic screening could not be drawn from this study.

Sleep is disturbed in 60% of children with atopic dermatitis (AD).To characterize sleep in a cohort of children with moderate-to-severe AD and determine methods for assessment of sleep disturbance.A case-control study compared children age 6 to 17 years who have moderate-to-severe AD with age- and sex-matched healthy controls. Participants wore actigraphy watches and completed sleep- and disease-specific questionnaires.Nineteen patients with AD and 19 controls completed the study. The patients with AD experienced wake after sleep onset (WASO) for 103 plus or minus 55 minutes as compared with 50 plus or minus 27 minutes in the controls (P .01). They had a higher frequency of restless sleep, daytime sleepiness, difficulty falling back to sleep at night, and teacher-reported daytime sleepiness. Disease severity correlated well with WASO (total SCORing Atopic Dermatitis score: r = 0.61, P .01; objective SCORing Atopic Dermatitis score: r = 0.58, P = .01; and Eczema Area and Severity Index: r = 0.68, P .01). The Children's Dermatology Life Quality Index sleep question correlated with WASO (r = 0.52, P = .03), but self-reported itch severity did not (r = 0.28, P = .30).The study cohort was small.Children with moderate-to-severe AD experience more WASO and lower sleep efficiency than healthy controls but similar bedtime and wake time, sleep duration, and sleep onset latency.

Background Data regarding the treatment of periorificial dermatitis with topical calcineurin inhibitors (TCI) in the pediatric population are limited. Objective To assess the clinical utility of TCI in pediatric patients with periorificial dermatitis. Methods A retrospective medical record review of all pediatric patients with periorificial dermatitis treated with TCIs was performed. Follow-up via telephone was performed to capture missing data. Results A total of 132 patients met the inclusion criteria. The median age at diagnosis was 4.2 years (interquartile range, 2.3-8.2). The median follow-up was 5.2 months (interquartile range, 2.1-11.7). Seventy-two patients had evaluable follow-up data. Of these, 48 (67%) patients were treated with TCI alone, 12 (16.7%) were treated with a combination of TCI and topical metronidazole, and 9 (12.5%) were treated with a combination of TCI and a systemic antibiotic. Complete response was noted in 68.8% of patients treated with TCI alone, in 75% of patients treated with TCI and metronidazole, and in 77.8% of patients treated with TCI and a systemic antibiotic. Adverse events were rare and mild in severity. Conclusion Topical calcineurin inhibitors are an effective therapeutic option for pediatric patients with periorificial dermatitis and were well tolerated in this cohort.

ObjectiveTo identify risk factors associated with nonmelanoma skin cancer (NMSC) occurrence and survival in children.Study designThis was a multicenter, retrospective, case-control study of patients 12months prior to diagnosis and 49% of patients were diagnosed with ≥2 skin cancers. At last follow-up, 5% (6 of 124) of patients with NMSC died. Voriconazole exposure was noted in 7 cases and associated with worse 3-year overall survival (P=.001).ConclusionsNMSC in children and young adults is often associated with a predisposing condition or iatrogenicexposure. High-risk patients should be identified early to provide appropriate counseling and management.

Sleep disruption in the setting of AD is multifactorial. Pruritus and scratching are known contributors to sleep disturbance, but more complex and systemic factors also affect sleep. The complex interactions between cytokines, melatonin, circadian rhythms, and pruritus prime AD skin for exacerbations at night. This leads to significant sleep disturbance and poorer quality of life. AD patients with sleep disturbance may also suffer growth disturbances, behavioral issues, and neurocognitive disorders. Recognizing these significant comorbidities associated with AD and sleep disruption highlights the global burden of this disorder on patients and should be accounted for in clinical management.

BACKGROUND/OBJECTIVES Epidemiological studies have shown an increased prevalence of attention deficit hyperactivity disorder (ADHD) in children with atopic dermatitis (AD), but many of the features of ADHD may occur as a result of the poor sleep and itch distraction associated with AD. METHODS A case-control study was performed in children aged 6-17 years with moderate/severe AD compared with age-/sex-matched healthy controls. Participants were screened for ADHD using Vanderbilt assessments. RESULTS Seventeen patients with AD and 18 controls completed the study. Two children with AD (11.7%) and one control (5.56%) met screening criteria for ADHD via parent-completed Vanderbilt assessments; AD patients were not significantly more likely to screen positive for ADHD (P = 0.47), or comorbid behavior disorders (P = 0.23). However, AD patients were more likely than controls to exhibit ADHD-associated behaviors, most significantly inattention. CONCLUSIONS Our AD cohort did not have a significantly increased prevalence of ADHD. Certain neurocognitive symptoms are increased in children with moderate-to-severe AD compared to controls.

Background Little is known on the clinical manifestations of coconut allergy. Our knowledge to date is mainly based on case reports. Objective To characterize the allergic reactions to coconut and suggest diagnostic cutoffs for specific immunoglobulin E (sIgE) and skin prick testing (SPT) to predict clinically reactive coconut allergy. Methods Methods include retrospective chart review at an urban tertiary care center of patients with positive testing result for coconut. Probability curves were computed by logistic regression for SPT and coconut sIgE. Results Of 275 records reviewed, 69 patients reported coconut reactions and 206 were sensitized only or nonallergic. The reactions occurred with breastfeeding (n = 2), contact (n = 10), or oral ingestion (n = 57). Approximately 50% of oral ingestion reactions were associated with mild/moderate anaphylaxis. Clinical reactivity vs sensitization was more common in topical coconut users (2-fold) (P = .02). Although not statistically significant, there was a trend toward more coconut allergy vs sensitization in Asian and African American patients. The probability of allergy with positive SPT result was approximately 50% and with sIgE was approximately 60%. At an SPT of 9 mm wheal or sIgE of 58 kU of allergen/L, there is a 95% probability of reaction. Cosensitization with tree nuts, legumes, and seeds was common. Macadamia nut had the strongest correlation with coconut (r = 0.81, P Conclusion Although the rate of reactivity to coconut in sensitized individuals is low, half of the reactions from consumption met the criteria for anaphylaxis. Clinicians should be aware of the spectrum of reactions and diagnostic use of sIgE and SPT.

Objective To characterize the risk for ocular complications in patients with PHACE syndrome. Study design This study included consecutive patients with PHACE syndrome who were seen at Lurie Children's Hospital of Chicago from January 2000 through May 2017. A complete ophthalmic examination was performed in all patients, with extra attention for findings typically associated with PHACE syndrome. Results Thirty patients (67% female, median age of onset 0.08 months) were included: 38 (93%) demonstrated a segmental infantile hemangioma distribution. Twenty-one (70%) cases had a periocular involvement, and 47% had an infantile hemangioma with a deep component. Among 21 patients with periocular distribution, 9 had ocular complications secondary to the periocular location (mainly ptosis, nasolacrimal duct obstruction, and refractive errors), and one had an ocular complication specifically associated with PHACE syndrome (Horner syndrome). None of the patients without periocular distribution had an ocular complication. Conclusions In patients with PHACE syndrome who have a periocular infantile hemangioma, a complete eye examination is recommended. Although specific ocular anomalies related to PHACE syndrome are rare, serious ocular complications secondary to the location of the hemangioma may be present. Eye examination in patients with PHACE syndrome without a periocular infantile hemangioma distribution is likely of low yield.

Background The epidemiology of pediatric melanoma is distinct from that seen in adults. This is more distinguishable when pediatric patients are separated into prepubertal and adolescent groups. Objective In this study, we compared epidemiologic, clinical, histologic, and molecular characteristics of pediatric superficial spreading melanoma (SSM) in prepubertal and adolescent patients to that in adults. Method We reviewed our database for pediatric melanomas, comparing SSM data between pediatric and adult cases for pathologic stage at presentation, ratio of radial to vertical growth phase, average Breslow depth and mitotic index, and frequency of fluorescence in situ hybridization (FISH) positivity. Results Of 84 pediatric melanomas, 38 were SSM, and 5 of the latter (6%) were prepubertal. There were no significant differences when pediatric and adult SSM were compared for stage at presentation, ratio of radial to vertical growth phase, average Breslow depth and mitotic count, or frequency of FISH positivity. A significant difference was detected for SSM arising from a precursor nevus (80% of pediatric cases versus 30% of adult cases). Limitations Follow-up time was limited for both cohorts. Conclusions SSM melanoma is infrequent in childhood, particularly in the prepubertal years. Features such as tumor stage, Breslow depth, mitotic activity, and FISH positivity suggest morphologic and molecular characteristics similar to those of adult SSM.

A 3-year-old girl presented with a linear eruption on her leg for 2 months. She was otherwise healthy and well-appearing. Physical examination showed many small, erythematous, flat-topped papules coalescing into a linear erythematous plaque. At a follow-up visit 9 months later, the eruption had resolved, leaving postinflammatory hypopigmentation.When approaching a cutaneous eruption, appreciating the pattern of the lesions can be instrumental to arriving at the correct diagnosis. For this patient with the acute onset of a plaque on the leg, the differential diagnosis is narrowed by the linear distribution of the skin lesions. The differential diagnosis of linear eruptions in children includes lichen striatus, linear lichen planus, linear psoriasis, inflammatory linear verrucous epidermal nevus, incontinentia pigmenti, phytophotodermatitis, and allergic contact dermatitis. Of note, many of these conditions manifest in a linear manner as a result of cutaneous mosaicism, whereas others are caused by external agents contacting the skin. [ Pediatr Ann . 2015;44(8):e194–e198.]

A previously healthy 6-month-old boy presented to the pediatric dermatology clinic for evaluation of a persistent, pruritic eruption. This eruption involved the scalp, extremities, and inguinal creases and was intensely pruritic. The patient had been previously treated with multiple topical corticosteroids and antifungals, all with minimal improvement. He born at full term and was otherwise well and thriving. Review of systems was negative. Examination revealed erythematous to yellow scaly, greasy plaques, some with underlying purpuric papules in the frontal, temporal, and vertex of the scalp, post-auricular regions, and the conchae of both ears. There were also scattered papules and purpura noted in the inguinal creases, and hyperkeratotic yellow papules on the extensor extremities. He had no abnormal lymphadenopathy or hepatosplenomegaly. The remainder of his examination was normal. A diagnostic skin biopsy was performed. To read more and to earn CME credit for reading this article, access the full text by going to Healio.com/Pediatrics and searching: doi: 10.3928/00904481-20131223-10.