Inpatient management of epidermolysis bullosa: Consensus-based hands-on instructions for neonates and postneonates.

BACKGROUND: Epidermolysis bullosa (EB), characterized by skin fragility and blistering, often requires hospitalization. Training for inpatient management of EB is limited, with no unified recommendations available in North America. OBJECTIVE: To develop consensus-derived best practices for hands-on inpatient management of EB in both the neonatal and postneonatal period. METHODS: A modified Delphi method (expert-based input via 2 surveys and a final review) was implemented. Available guidelines from EB Clinical Research Consortium centers were analyzed to determine areas of focus and formulate statements to be voted on by EB Clinical Research Consortium members, experienced EB nurses, and select family members. Study participants evaluated statements using a Likert scale: statements with at least 70% agreement were accepted; statements with 30% or more disagreement were rejected. RESULTS: Ten areas of focus were identified. Delphi participants included 15 dermatologists, 8 nurses, and 6 nonhealth care caregivers. Consensus was established on 103/119 neonatal statements and 105/122 postneonatal statements; no statements were rejected. Most recommendations applied to both age groups. LIMITATIONS: Recommendations may require adjustment based on individual patient's clinical context. CONCLUSION: Using the Delphi method, a consensus-derived resource for hospital-based health care professionals who manage patients with EB has been developed to improve the quality of inpatient care.

Low rates of neurological abnormalities in patients with pigmentary mosaicism: A retrospective cohort study from a tertiary dermatology center.

BACKGROUND: Pigmentary mosaicism (PM) is a descriptive term encompassing a range of hyper- and hypo-pigmented phenotypes in various patterns. Information from the neurology literature initially noted neurological abnormalities (NA) in up to 90% of children with PM. The dermatology literature suggests lower associated rates (15%-30%) of NA. Variations in terminology, inclusion criteria, and small population sizes makes interpreting existing PM literature complicated. We aimed to assess rates of NA in children presenting to dermatology with PM. METHODS: We included patients <19 years, diagnosed with PM, nevus depigmentosus and/or segmental café au lait macules (CALM) seen in our dermatology department between 1 January 2006 and 31 December 2020. Patients with neurofibromatosis, McCune-Albright syndrome, and non-segmental CALM were excluded. Data collected included pigmentation, pattern, site(s) affected, presence of seizures, developmental delay, and microcephaly. RESULTS: One hundred fifty patients were included (49.3% female), with a mean age at diagnosis of 4.27 years. Patterns of mosaicism were ascertained for 149 patients and included blaschkolinear (60/149, 40.3%), blocklike (79/149, 53.0%), or a combination of both patterns (10/149, 6.7%). Patients with a combination of patterns were more likely to have NA (p < .01). Overall, 22/149 (14.8%) had NA. Nine out of twenty-two patients with NA had hypopigmented blaschkolinear lesions (40.9%). Patients with ≥4 body sites affected were more likely to have NA (p < .01). DISCUSSION: Overall, our population had low rates of NA in PM patients. A combination of blaschkolinear and blocklike patterns, or ≥4 body sites involved were associated with higher rates of NA.

Paraneoplastic pemphigus associated with Castleman disease: A multicenter case series.

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.

Assessing pain catastrophizing and functional disability in pediatric epidermolysis bullosa patients.

BACKGROUND/OBJECTIVES: The primary objective was to assess pain catastrophizing and functional disability in pediatric patients with epidermolysis bullosa (EB) and their parents/guardians. Secondary objectives included examining relationships between pain catastrophizing, functional disability, and correlations with other factors (e.g., age, disease severity, and percent of body surface area (BSA) involved). METHODS: Patients with EB ages 8-16 and their parents/guardians who were English or Spanish speaking completed a one-time online survey. Parent measures included: demographics questionnaire, Pain Catastrophizing Scale-Parent (PCS), and Parent Functional Disability Inventory (FDI). Child measures included: PCS child and child FDI. Higher scores on both scales indicate higher levels of catastrophizing and functional disability. RESULTS: Of 31 children, the mean age was 11.47 years and the majority (70.97%) had dystrophic EB. Mean scores were: 35.84 = PCS parent; 34.58 = PCS child; 30.87 = parent FDI; 29.77 = child FDI. Total scores for PCS parent, parent FDI, and child FDI increased significantly with disease severity and percentage of involved BSA (p < .01 for all). Total scores for PCS child increased significantly with percent of EB skin involvement (p = .04) but not disease severity. Older children reported more functional disability than their parents and younger children (p = .02). CONCLUSIONS: Our results demonstrate significant positive correlations between negative thoughts related to pain and the experience of functional difficulties in patients with EB and their caregivers. Psychological, psychiatric, and/or behavioral interventions to help managing chronic pain may be effective for patients with EB.

Central nervous system magnetic resonance imaging abnormalities and neurologic outcomes in pediatric patients with congenital nevi: A 10-year multi-institutional retrospective study.

BACKGROUND: High-risk congenital melanocytic nevi (CMN) are associated with abnormalities of the central nervous system (CNS), prompting magnetic resonance imaging (MRI) screening guidelines. OBJECTIVE: Describe MRI brain and spine abnormalities in children with CMN and report trends between nevus features, MRI findings, and neurologic outcomes. METHODS: Retrospective review of individuals aged ≤18 years with an MRI of the brain and/or spine and at least 1 dermatologist-diagnosed CMN. RESULTS: Three hundred fifty-two patients were identified. Forty-six children had CMN that prompted an MRI of the brain and/or spine (50% male, average age at first image, 354.8 days). In these children, 8 (17%) had melanin detected in the CNS, of whom all had >4 CMN. One developed brain melanoma (fatal). In patients without CNS melanin, 4 had concerning imaging. Concerning MRI patients had more neurodevelopmental problems, seizures, neurosurgery, and death than individuals with unremarkable imaging. Three hundred six patients received MRIs for other reasons; none detected melanin. No children with only multiple small CMN (n = 15) had concerning imaging. LIMITATIONS: Lack of a control group, cohort size, and retrospective methods. CONCLUSION: MRI of the brain and spine is useful for detecting intervenable abnormalities in high-risk children. Healthy infants with few small CMN may not require screening MRI.

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.

Improved erythema and decreased blister formation in dominant dystrophic epidermolysis bullosa following treatment with pulsed dye laser.

Dominant dystrophic epidermolysis bullosa (DDEB), an inherited disorder due to type VII collagen mutations, is characterized by blisters and erosions that heal with scarring, atrophy, and milia. There is no established role for laser in the management of patients with DDEB. Pulsed dye laser (PDL) is most often used to target vascular skin lesions. We describe a patient with DDEB with marked improvement in erythema as well as fewer and less symptomatic episodes of blistering following treatment with PDL.

Utility of routine patch testing prior to surgical repair of pectus excavatum: A multidisciplinary experience via retrospective review at a single tertiary care center.

BACKGROUND: The Nuss procedure is the only implant procedure in which routine, rather than selective, preoperative patch testing is recommended. This practice has recently been called into question. OBJECTIVE: To evaluate an updated experience of pre-implant patch testing in patients undergoing the Nuss procedure. METHODS: A retrospective chart review of Nuss procedures from 2012 through 2020. RESULTS: Forty-five patients were identified for data collection. From 2012 to 2014, none of the 14 patients were patch tested. From 2015 to 2020, 26 of 31 (83.9%) were patch tested. Of those tested, only 2 had a positive patch test. A hypoallergenic titanium bar was inserted in each case. In total, there were zero bar reactions. CONCLUSION: The risks of patch testing are extremely small and should be weighed against the serious implications of even one bar allergy when deciding on future guidelines.

Nail disease in neonatal abstinence syndrome.

BACKGROUND/OBJECTIVES: Neonatal abstinence syndrome (NAS) incidence continues to rise in the United States due to increasing opioid use disorder in pregnancy. While cutaneous excoriations have been noted in NAS, there is a paucity of literature regarding abnormal nail findings in NAS. METHODS: A retrospective, observational case series was conducted of twelve patients with NAS and abnormal nail findings who were admitted to the neonatal intensive care unit between January 1, 2018, and May 1, 2020. RESULTS: Twelve neonates (10 male, 2 female, mean gestational age at birth 38.1 weeks) with NAS diagnosis and abnormal nail findings were identified between January 1, 2018, and May 1, 2020. NAS was diagnosed by elevated Modified Finnegan Neonatal Abstinence Syndrome Tool (M-FNAST) scores. All patients required pharmacologic treatment for NAS with seven (58.3%) requiring phenobarbital in addition to first-line morphine. Common nail findings included periungual erythema, yellow crusting, desquamation of the proximal and/or distal lateral nail folds and sheared distal nail edges. Two patients (16.7%) required antibiotic treatment for paronychia. Peak M-FNAST scores were positively correlated with number of abnormal nail findings (r = .58, P = .047). CONCLUSIONS: Twelve neonates with severe NAS demonstrated similar nail abnormalities, likely secondary to NAS agitation and motor hyperactivity. Nail exams, therefore, are important in the setting of suspected or confirmed NAS to limit continued nail trauma and infection. Our findings also introduce an association between NAS severity and abnormal nail findings, which will require larger studies for further confirmation.

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.

Dermatologic conditions in Down syndrome: A single-center retrospective chart review.

BACKGROUND: Current literature addressing dermatologic conditions associated with Down syndrome is limited, with emphasis on rare skin conditions and lack of consensus on the incidence of more common disorders. OBJECTIVE: We sought to evaluate dermatologic conditions in patients with Down syndrome diagnosed and managed by dermatologists. METHODS: This was a retrospective analysis of 101 pediatric and adult patients with Down syndrome seen by the University of Massachusetts Dermatology Department between 2008 and 2018. RESULTS: Folliculitis was the most common diagnosis overall (30.7%), followed by seborrheic dermatitis (26.7%) and hidradenitis suppurativa (22.8%). Eczematous dermatitis, alopecia areata, and xerosis were the most common diagnoses observed in children aged 0-12 years; hidradenitis suppurativa, folliculitis, and seborrheic dermatitis in adolescents aged 13-17 years; and folliculitis, seborrheic dermatitis, and xerosis in adults 18 years and older. Other notable diagnoses present overall included onychomycosis (9.9%) and psoriasis (8.9%). Malignant cutaneous tumors were present in two patients, specifically basal cell carcinoma and malignant melanoma in situ. LIMITATIONS: This was a retrospective, single-institution study. CONCLUSION: Dermatologic conditions in patients with Down syndrome vary by age but are most often adnexal and eczematous disorders. Trisomy of chromosome 21 and the resulting downstream effects, specifically on the immune system, may account for these findings.

Petroleum jelly baths: A tip for easy emollient application.

Petroleum jelly has long been a favorite treatment option of dermatologists for atopic dermatitis, despite complaints of "greasiness" by patients and their parents. Here, we describe a simple application method that effectively traps moisture against the skin while leaving behind only a thin layer of product, thus eliminating the "greasiness" associated with petroleum jelly.

Proliferating pilomatricoma in a 9-year-old girl.

Proliferating pilomatricoma is a rare, benign tumor of hair matrix origin that rarely occurs in children. We report the case of a 9-year-old girl with a rapidly growing, proliferating pilomatricoma located on the glabella. The lesion was embolized and surgically excised, with histopathological examination of the tissue confirming the diagnosis of proliferating pilomatricoma.

Verruciform xanthoma in recessive dystrophic epidermolysis bullosa and keratitis-ichthyosis-deafness syndrome: Report of two cases and a review of the literature.

Verruciform xanthoma is a benign, wart-like lesion that can clinically mimic squamous cell carcinoma. We describe two teenage patients with severe genodermatoses, recessive dystrophic epidermolysis bullosa (RDEB), and keratitis-ichthyosis-deafness (KID) syndrome, respectively, each found to have plaques suspicious for malignancy, later demonstrated on histopathologic examination to be verruciform xanthoma. We discuss the connection between these severe genodermatoses and the suspected pathophysiology of verruciform xanthoma. In addition, we highlight the importance of recognizing verruciform xanthoma as a clinical mimicker of squamous cell carcinoma, for which patients with RDEB and KID syndrome are at increased risk.

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.

Pityrosporum folliculitis: A retrospective review of 110 cases.

BACKGROUND: Pityrosporum folliculitis is an under-recognized eruption of the face and upper portion of the trunk that may be confused with, or occur simultaneously with, acne vulgaris. OBJECTIVE: We sought to characterize risk factors for Pityrosporum folliculitis, its clinical presentation, and its response to treatment. METHODS: A retrospective chart review was performed on all patients age 0 to 21 years seen at our facility from 2010 to 2015 with Pityrosporum folliculitis confirmed by a potassium hydroxide preparation. RESULTS: Of 110 qualifying patients, more than 75% had acne that had recently been treated with antibiotics, and when recorded, 65% reported pruritus. Clinical examination demonstrated numerous 1- to 2-mm monomorphic papules and pustules that were typically on the forehead extending into the hairline and on the upper portion of the back. The most common treatment was ketoconazole shampoo, which led to improvement or resolution in most cases. Some patients required oral azole antifungals. LIMITATIONS: This study was retrospective and relied on providers describing and interpreting the clinical findings and potassium hydroxide preparations. No standard grading system was used. CONCLUSION: Unlike classic acne vulgaris, Pityrosporum folliculitis was more common after antibiotic use. It presented as fine monomorphic, pruritic papules and pustules along the hairline and on the upper portion of the back, and it improved with topical or oral azole antifungal therapy.