Risk factors and outcomes of melanoma in children and adolescents: A retrospective multicenter study.

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.

Transition of care in adolescents with epidermolysis bullosa: The provider perspective.

The characteristics of epidermolysis bullosa (EB) demand higher than average provider support for transition from pediatric to adult care. We administered an online Qualtrics survey to members of the Epidermolysis Bullosa Clinical Research Consortium (EBCRC), a group of providers who care for patients with EB, in order to examine their practices and perspectives on transition of care (TOC) and identify barriers to successful implementation. Sixteen of eighteen medical centers completed the survey. Eighty-eight percent of center representatives expressed concerns about their patients transitioning/transferring from the pediatric to adult-centered care. Thirty-eight percent of providers reported having a formal TOC program in place. Our findings support the desire for formal TOC programs, the need for a team-based approach and, in particular, identification of adult providers to participate in the transition to improve this often challenging time.

Transition of care in patients with epidermolysis bullosa: A survey study.

There are little published data on the transition of care in EB. We conducted a survey study recruiting EB patients from the Dystrophic EB Research Association (debra) website and centers caring for high numbers of EB patients in the United States and internationally from Sept 17, 2019 to Nov 3, 2021. The majority of participants had not discussed the transition of care with their healthcare providers, nor the healthcare needs to be required as an adult. Ongoing pediatric subspecialty care was reported by 12% of adults, most commonly in pediatric dermatology. Identified barriers to transition included the perceived lack of adult providers' knowledge about EB patient healthcare needs. The results suggest the need for transition guidelines, early discussions with families about transition, and practical information for the adult providers accepting care.

Characterization of wound microbes in epidermolysis bullosa: A focus on Pseudomonas aeruginosa.

The most common bacteria isolated from wound cultures in patients recorded in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database (EBCCOD) are Staphylococcus aureus and Pseudomonas aeruginosa. Given the prevalence of P. aeruginosa in this patient population and prior research implicating P. aeruginosa's potential role in carcinogenesis, we sought to further analyze patients with recorded wound cultures positive for Pseudomonas aeruginosa in the EBCCOD. We provide a descriptive analysis of this subset of patients and highlight potential avenues for future longitudinal studies that may have significant implications in our wound care management for patients with epidermolysis bullosa.

A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa.

BACKGROUND: Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, and genetic counseling. OBJECTIVE: To describe diagnostic testing patterns and assess diagnostic concordance of transmission electron microscopy (TEM), immunofluorescence mapping (IFM), and genetic analysis for EB. METHODS: A retrospective cohort included patients enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2004, to July 8, 2019. Tests concluding the same EB type (EB simplex, junctional EB, dominant dystrophic EB, and recessive dystrophic EB) were considered concordant; those concluding different EB types were considered discordant; and those with nonspecific/nondefinitive results were equivocal. RESULTS: A total of 970 diagnostic tests were conducted from 1984 to 2018 in 771 patients. Genetic analyses were performed chronologically later than IFM or TEM (P < .001). The likelihood of undergoing genetic analysis was greater for junctional EB and recessive dystrophic EB, and the same for dominant dystrophic EB as compared with EB simplex. TEM results in 163 patients were equivocal (55%), concordant (42%), and discordant (3%). IFM results in 185 patients were equivocal (54%), concordant (42%), and discordant (4%). LIMITATIONS: Retrospective design. CONCLUSIONS: Diagnostic testing has shifted in favor of genetic analysis. TEM and IFM frequently offer equivocal findings when compared to the specificity afforded by genetic analysis.

Cutaneous findings in Fanconi anemia.

BACKGROUND: Fanconi anemia (FA) is a genetic disorder that results in bone marrow failure, physical abnormalities, and solid organ malignancies. The diagnosis of FA is often delayed because the early disease characteristics have not been well established. OBJECTIVE: To outline the spectrum of cutaneous findings seen in patients with FA. METHODS: A cross-sectional study in which patients with FA received a full-body skin examination. Patient characteristics are summarized with mean (SD) for continuous and count (%) for categorical variables. Poisson regression and logistic regression models were used to examine the relationships between pigmentary changes and patient characteristics. RESULTS: At least 1 cutaneous pigmentary alteration was present in 96.8% of patients, most arising before the teenage years. The most common finding was café-au-lait macules. Other findings included hypopigmented macules, skin-fold freckle-like macules, extensive sun-exposed freckling, and both hypopigmented and hyperpigmented pigment macules. LIMITATIONS: Patients received a single assessment, so the number of pigmentary changes could not be assessed over time. CONCLUSIONS: Characteristic morphology of FA includes faint and ill-defined café-au-lait macules, hypopigmented skin-fold freckle-like macules and the concurrence of hypopigmented and hyperpigmented macules. The recognition of these findings could aid clinicians in making earlier diagnoses.

Characterization of wound microbes in epidermolysis bullosa: Results from the epidermolysis bullosa clinical characterization and outcomes database.

BACKGROUND/OBJECTIVES: Patients with epidermolysis bullosa (EB) require care of wounds that are colonized or infected with bacteria. A subset of EB patients are at risk for squamous cell carcinoma, and bacterial-host interactions have been considered in this risk. The EB Clinical Characterization and Outcomes Database serves as a repository of information from EB patients at multiple centers in the United States and Canada. Access to this resource enabled broad-scale analysis of wound cultures. METHODS: A retrospective analysis of 739 wound cultures from 158 patients from 13 centers between 2001 and 2018. RESULTS: Of 152 patients with a positive culture, Staphylococcus aureus (SA) was recovered from 131 patients (86%), Pseudomonas aeruginosa (PA) from 56 (37%), and Streptococcus pyogenes (GAS) from 34 (22%). Sixty-eight percent of patients had cultures positive for methicillin-sensitive SA, and 47%, methicillin-resistant SA (18 patients had cultures that grew both methicillin-susceptible and methicillin-resistant SA at different points in time). Of 15 patients with SA-positive cultures with recorded mupirocin susceptibility testing, 11 had mupirocin-susceptible SA and 6 patients mupirocin-resistant SA (2 patients grew both mupirocin-susceptible and mupirocin-resistant SA). SCC was reported in 23 patients in the entire database, of whom 10 had documented wound cultures positive for SA, PA, and Proteus species in 90%, 50%, and 20% of cases, respectively. CONCLUSIONS: SA and PA were the most commonly isolated bacteria from wounds. Methicillin resistance and mupirocin resistance were reported in 47% and 40% of patients tested, respectively, highlighting the importance of ongoing antimicrobial strategies to limit antibiotic resistance.

Characterizing online searches in pediatric dermatology.

The use of online medical information is a common trend but little is known about these searches and implications in pediatric dermatology. Through a convenience sample of 95 parents/guardians and patients in pediatric dermatology at the University of Minnesota, 38.9% of participants reported that they had used an online search tool prior to their appointment. Google was the most common tool used (91.4%), and eczematous conditions were the most common patient-suspected diagnosis (32.4%). Of interest, 13.9% of individuals became more concerned and 16.7% made an appointment earlier because of their online findings.

Tinea capitis: A single-institution retrospective review from 2010 to 2015.

BACKGROUND/OBJECTIVE: Tinea capitis is a common infection of scalp hair in children. The prevalent etiologic organism has changed significantly over time, which may reflect the complex interaction of environmental factors, genetic predisposition, and movement of populations. We evaluate the prevalence of different infectious organisms causing tinea capitis and describe the clinical characteristics. METHODS: A retrospective chart review of patients diagnosed with tinea capitis with tissue culture confirmation, who were seen in pediatric dermatology at a tertiary care center from 2010 to 2015. Patient demographics, culture data, and clinical characteristics were evaluated. Inflammatory pattern, characterized by presence of pustules, bogginess, or lymphadenopathy, was noted. RESULTS: Forty-six patients with culture-positive tinea capitis were identified. In the 18 (42.9%) patients who were infected with either Trichophyton violaceum or Trichophyton soudanenese, all were of African ethnicity. In contrast, Trichophyton tonsurans was identified in a minority of African patients (3.8%), revealing a statistically significant difference between ethnicity and infective species (P-value < 0.001). T tonsurans was significantly more likely than T violaceum to exhibit an inflammatory pattern (68% vs 22%, P value < 0.027). CONCLUSIONS: While T tonsurans remained the most common cause of tinea capitis, T violaceum and T soudanense have increased in prevalence. As these latter agents are less inflammatory, clinical diagnosis may be delayed. Studying changes in the infectious cause of tinea capitis can help us create a snapshot to better understand the evolution of our population make-up, allowing us to provide crucial quality health care to all.

Treatment of superficial vascular anomalies with topical sirolimus: A multicenter case series.

BACKGROUND: Systemic sirolimus (rapamycin) has recently been found effective in treating complex vascular anomalies by reducing the size and associated complications. Many vascular anomalies have a cutaneous component, and thus, we sought to determine whether topical administration of sirolimus may be an effective therapy, as data on the use of topical sirolimus are limited. OBJECTIVE: We reviewed the efficacy and tolerability of topical formulations of sirolimus in the treatment of various simple and combined vascular malformations and tumors. METHODS: Eighteen patients with any vascular anomaly treated exclusively with topical sirolimus were retrospectively reviewed. RESULTS: Eleven patients had combined venous lymphatic malformations, three had tufted angiomas, two had a lymphatic malformation, one had a venous malformation, and one had a verrucous venous malformation. All (100%) patients reported some degree of improvement and 50% of patients reported marked improvement in one or more symptoms, most commonly blebs and lymphatic drainage, and bleeding. LIMITATIONS: The retrospective nature, small number of patients, and differences in topical preparations limit the broad application of the results. CONCLUSION: Topical sirolimus appears to be a safe and useful non-invasive therapy that is well-tolerated in the treatment of the cutaneous portion of a variety of vascular anomalies.

Skin cleansing and topical product use in patients with epidermolysis bullosa: Results from a multicenter database.

BACKGROUND/OBJECTIVES: Epidermolysis bullosa (EB) comprises a group of inherited skin blistering diseases. There is currently no cure, and management includes skin protection and prevention of infection. To date, there has been no systematic investigation of home skin care practices among EB patients on a multicenter scale. METHODS: This cross-sectional, observational study included data collected from patients with EB enrolled in the Epidermolysis Bullosa Characterization and Clinical Outcomes Database (EBCCOD) who provided answers to a patient-directed questionnaire between January 1, 2017, and December 31, 2017. RESULTS: Of 202 respondents, 130 (64.4%) had dystrophic EB, 51 (25.2%) had EB simplex, 21 (7.4%) had junctional EB, 3 (1.5%) had Kindler syndrome, and 3 (1.5%) had an unspecified subtype. Seventy-eight patients reported cleansing in plain water only (39%). Of those who used an additive in their cleansing water, 75 (57%) added salt, 71 (54%) added bleach, 36 (27%) added vinegar, and 34 (26%) endorsed the use of an "other" additive (multiple additives possible). Reported concentrations of additives ranged widely from 0.002% sodium hypochlorite and 0.002% acetic acid solutions, which are thought to have negligible effects on microbes, to 0.09% sodium hypochlorite and 0.156% acetic acid, concentrations shown to be cytotoxic. One hundred eighty-eight patients answered questions regarding topical product use (93%). Of those, 131 reported topical antimicrobial use (70%). Mupirocin and bacitracin were the most commonly reported topical antibiotics (59, 58 [31.4%, 30.9%], respectively). CONCLUSIONS: These findings highlight the variety of skin care routines and frequent use of topical antimicrobials among EB patients and have potential implications for antibiotic resistance. The reported range of bleach and vinegar additives to cleansing water, including cytotoxic concentrations, emphasizes the need for clear and optimized skin cleansing recommendations.

Risk Factors and Outcomes of Nonmelanoma Skin Cancer in Children and Young Adults.

OBJECTIVE: To identify risk factors associated with nonmelanoma skin cancer (NMSC) occurrence and survival in children. STUDY DESIGN: This was a multicenter, retrospective, case-control study of patients <20 years of age diagnosed with NMSC between 1995 and 2015 from 11 academic medical centers. The primary outcome measure was frequency of cases and controls with predisposing genetic conditions and/or iatrogenic exposures, including chemotherapy, radiation, systemic immunosuppression, and voriconazole. RESULTS: Of the 124 children with NMSC (40 with basal cell carcinoma, 90 with squamous cell carcinoma), 70% had at least 1 identifiable risk factor. Forty-four percent of the cases had a predisposing genetic condition or skin lesion, and 29% had 1 or more iatrogenic exposures of prolonged immunosuppression, radiation therapy, chemotherapy, and/or voriconazole use. Prolonged immunosuppression and voriconazole use were associated with squamous cell carcinoma occurrence (cases vs controls; 30% vs 0%, P = .0002, and 15% vs 0%, P = .03, respectively), and radiation therapy and chemotherapy were associated with basal cell carcinoma occurrence (both 20% vs 1%, P < .0001). Forty-eight percent of initial skin cancers had been present for >12 months 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). CONCLUSIONS: NMSC in children and young adults is often associated with a predisposing condition or iatrogenic exposure. High-risk patients should be identified early to provide appropriate counseling and management.

Two pediatric cases of influenza B-induced rash and mucositis: Stevens-Johnson syndrome or expansion of the Mycoplasma pneumoniae-induced rash with mucositis (MIRM) spectrum?

We present two pediatric cases of recurrent mucositis associated with influenza B infection, both in patients with prior episodes of Stevens-Johnson syndrome (SJS) due to Mycoplasma. Influenza B is an uncommon cause of both rash and mucosistis and SJS.

Fibrous hamartoma of infancy associated with bony remodeling and muscle atrophy.

Fibrous hamartoma of infancy (FHI) is a benign, poorly demarcated, unencapsulated hamartoma contiguous with surrounding fat. This case highlights pronounced bony remodeling and muscle atrophy associated with FHI in a 6-week-old girl. Emphasis is placed on pathologic diagnosis and mechanisms, treatment considerations, and the multidisciplinary approach utilized in the management of the disorder.

Cutaneous Granular Cell Tumors in Children: Case Series and Review of the Literature.

Granular cell tumors (GCTs) are uncommon benign neoplasms thought to originate from Schwann cells. They most commonly present in adults as papules or nodules on mucosal sites. The clinical spectrum of GCT in children is not well delineated, although mucosal and cutaneous presentations have been reported. We present three children with cutaneous GCTs and review the literature in an attempt to further characterize this rare pediatric neoplasm.

Cutaneous Reactions in Children Treated with the Mitogen-Activated Protein Kinase Extracellular Signal-Regulated Kinase Inhibitor Trametinib for Neural Tumors.

BACKGROUND: The mitogen-activated protein kinase (MAPK) pathway is a target for the treatment of a growing number of malignancies. The cutaneous reactions to medications that inhibit this pathway have not been described in children. METHODS: A retrospective chart review was completed for eight children with neural tumors treated with the MAPK extracellular signal-regulated kinase inhibitor trametinib. All children were evaluated by a pediatric dermatologist with documentation of cutaneous findings. RESULTS: All patients had at least two separate skin reactions while on treatment with trametinib. Common skin findings included xerotic dermatitis, bacterial folliculitis, acneiform eruptions, paronychia, and hair thinning. No child needed to discontinue use of trametinib due to cutaneous toxicities. CONCLUSIONS: Cutaneous reactions are common in children receiving trametinib. Identification of these reactions is the initial step in establishing treatment guidelines that will minimize skin eruptions and subsequent interruption of trametinib treatment.

Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis.

BACKGROUND/OBJECTIVES: Lamellar ichthyosis (LI) is a well-described phenotypic subtype of autosomal recessive congenital ichthyosis (ARCI). The condition typically presents at birth with collodion membrane and leads to thick, plate-like scaling of the skin throughout the body, alopecia, and prominent ocular manifestations. Ocular complications include bilateral cicatricial ectropion and lagophthalmos. These ocular complications can lead to chronic exposure keratitis and in some cases corneal ulceration and blindness. No cure for ichthyosis exists. Treatment of ocular complications in LI includes surgical correction, systemic retinoids, and a variety of topical therapies such as emollients, keratolytics, and retinoids. METHODS: Five children with LI cared for at our institution were identified and included. Patient age at the start of therapy ranged from 2 weeks to 9 years. Electronic medical records were reviewed and data from pediatric dermatologist and pediatric ophthalmologist visits were obtained. Data were collected before and after treatment of daily or twice-daily 0.05% to 0.1% tazarotene cream applied to the face and eyelids. RESULTS: All patients had improvement in the degree of ectropion, with complete resolution in two of the five patients. The two patients with lagophthalmos at the time of tazarotene initiation experienced complete resolution. No adverse effects were reported. CONCLUSIONS: Tazarotene cream appears to be effective in the management of ectropion and lagophthalmos in the setting of LI in children, even in the neonatal period.

Perceptions and Practices Regarding Atopic Dermatitis: A Survey.

Parents (N = 392) completed a survey at the Minnesota State Fair in August and September 2015 addressing knowledge regarding the pathogenesis of atopic dermatitis (AD), basic skin care practices, and the perceived role of infection and food allergies in AD. Of participating parents, 82% identified food allergy or sensitivity in AD pathogenesis, whereas only 42% identified bacterial infection as an important factor in AD severity. Participants most often received education on skin health from their pediatrician (49%), followed by Internet-based sources (23%), rather than a dermatologist or pediatric dermatologist. Parents of children with AD overestimate the role of food allergies in this condition and are not as aware of the role of bacterial infection. Future educational directions from our specialty should focus on resources for pediatricians and families that emphasize these factors.

Toxic Epidermal Necrolysis in Recessive Dystrophic Epidermolysis Bullosa following Bone Marrow Transplantation.

A 3-year-old child with recessive dystrophic epidermolysis bullosa treated with bone marrow transplantation subsequently developed body-wide epidermal detachment distinct from his epidermolysis bullosa. Toxic epidermal necrolysis was diagnosed by examination and skin biopsy. Although graft-vs-host disease was considered, he had no features of this diagnosis by laboratory studies or skin biopsy, and he improved without addition of further immune suppressants. Throughout the episode, the patient was maintained on cyclosporine A, a component of his transplant regimen, and also a reported therapy for toxic epidermal necrolysis. He had full recovery. Re-epithelialization occurred in a unique folliculocentric pattern, which we postulate was related to the patient's mesenchymal stem cell infusion, received as an adjunct to his marrow transplantation.