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.

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.

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.

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.

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.

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.

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.

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.

Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America.

Importance: Children with epidermolysis bullosa (EB) comprise a rare population with high morbidity and mortality. An improved understanding of the clinical trajectory of patients with EB, including age at time of clinical diagnosis and major clinical events, is needed to refine best practices and improve quality of life and clinical outcomes for patients with EB. Objectives: To describe demographics, clinical characteristics, milestone diagnostic and clinical events (such as initial esophageal dilation), and outcomes in patients with EB using the Epidermolysis Bullosa Clinical Characterization and Outcomes Database and to determine what characteristics may be associated with overall EB severity and/or disease progression. Design, Setting, and Participants: This cohort study included data on patients with EB who were enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2011, to June 30, 2017; 17 participating EB centers in the United States and Canada contributed data to this study. Exposures: Type of EB, including recessive dystrophic epidermolysis bullosa (RDEB), junctional epidermolysis bullosa (JEB), dominant dystrophic epidermolysis bullosa (DDEB), and epidermolysis bullosa simplex (EBS). Main Outcomes and Measures: Demographic information, clinical characteristics (including age at onset of signs of EB and subsequent clinical diagnosis), types of diagnostic testing performed, and milestone clinical events for patients with RDEB. Results: Of 644 enrolled patients from 17 sites included in this study, 323 were male (50.2%), with a mean (SD) age of 14.4 (11.7) years; 283 (43.9%) had RDEB, 194 (30.1%) had EBS, 104 (16.2%) had DDEB, and 63 (9.8%) had JEB. Signs of disease were present at birth in 202 patients with RDEB (71.4%), 39 with JEB (61.9%), 60 with DDEB (57.7%), and 74 with EBS (38.1%). For those with signs of disease at birth, a clinical diagnosis was made at the time of birth in 135 patients with RDEB (67.0%), 31 with DDEB (52.6%), 35 with EBS, (47.3%) and 18 with JEB (46.2%). Patients with JEB had the highest rate of any confirmatory testing (51 of 63 [81.0%]), followed by RDEB (218 of 283 [77.0%]), DDEB (71 of 104 [68.3%]), and EBS (100 of 194 [51.5%]). For all types of EB, both electron microscopy and immunofluorescence microscopy were performed at younger ages than genetic analysis. Among 283 patients with RDEB, 157 (55.5%) had esophageal dilation, 104 (36.7%) had gastrostomy tube placement, 62 (21.9%) had hand surgery, 18 (6.4%) developed squamous cell carcinoma, and 19 (6.7%) died. Conclusions and Relevance: The findings suggest that diagnostic testing for EB is more common for patients with severe phenotypes. Earlier diagnostic testing may enable improved characterizations of patients so that appropriate counseling and clinical care may be offered, especially pertaining to milestone events for those with RDEB.

Doing the math: A simple approach to topical timolol dosing for infantile hemangiomas.

Topical timolol maleate has recently gained popularity as a treatment for superficial infantile hemangiomas, but calculating a safe dose of timolol can be time consuming, which may limit the medication's use in fast-paced clinical environments. This report offers a simplified calculation of the maximum daily safe dosage as 1 drop of medication per kilogram of body weight.

Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1.

BACKGROUND: The presence of six or more café au lait (CAL) spots is a criterion for the diagnosis of neurofibromatosis type 1 (NF-1). Children with multiple CAL spots are often referred to dermatologists for NF-1 screening. The objective of this case series is to characterize a subset of fair-complected children with red or blond hair and multiple feathery CAL spots who did not meet the criteria for NF-1 at the time of their last evaluation. METHODS: We conducted a chart review of eight patients seen in our pediatric dermatology clinic who were previously identified as having multiple CAL spots and no other signs or symptoms of NF-1. RESULTS: We describe eight patients ages 2 to 9 years old with multiple, irregular CAL spots with feathery borders and no other signs or symptoms of NF-1. Most of these patients had red or blond hair and were fair complected. All patients were evaluated in our pediatric dermatology clinic, some with a geneticist. The number of CAL spots per patient ranged from 5 to 15 (mean 9.4, median 9). CONCLUSION: A subset of children, many with fair complexions and red or blond hair, has an increased number of feathery CAL spots and appears unlikely to develop NF-1, although genetic testing was not conducted. It is important to recognize the benign nature of CAL spots in these patients so that appropriate screening and follow-up recommendations may be made.

Generalized spinous follicular lichen nitidus with perifollicular granulomas.

The first report of spinous follicular lichen nitidus with perifollicular granulomas was by Madhok and Winkelmann in 1988. Since this report, a few cases of follicular or periappendageal lichen nitidus have been described, in a more localized form or without perifollicular granulomas. We describe a 5-year-old girl with the rare generalized spinous follicular variant of lichen nitidus with perifollicular granulomas.