Davis, Dawn M R

Background/Objectives: Erythromelalgia is a rare condition characterized by burning pain, redness, and warmth primarily in the extremities, usually worsened by heat and alleviated by cold. The objective of this study was to identify the top 10 priorities in pediatric erythromelalgia from multiple perspectives, including clinicians, people with lived experience of childhood-onset erythromelalgia, and their family members. Methods: A modified James Lind Alliance Priority-Setting Process was conducted. The top priorities were identified through four phases: (1) an international online survey to gather priorities, (2) data processing, (3) an interim prioritization online survey, and (4) a virtual workshop to set the final priorities. Results: In phase 1, 185 potential priorities were submitted by 74 respondents (53% patients, 24% family members, and 23% clinicians) that were developed into 68 unique research questions (phase 2). In phase 3, of the 68 questions, 50 were rated for importance by 58 participants (38% patients, 36% family members, and 26% clinicians), reducing the list to 25 questions. In phase 4, the top 10 was reached through consensus by 12 participants (33% patients, 25% family members, and 42% clinicians) across Canada, South Africa, the United States of America, and the United Kingdom. Conclusions: The final priorities focused on the treatment of erythromelalgia, understanding underlying mechanisms, the association of erythromelalgia with various body systems, and generating awareness. This list is the first international patient-centered research agenda for childhood-onset erythromelalgia and a call to action from key partners to improve future research and care.

ABSTRACTBackgroundBlau syndrome is a rare, autosomal dominant granulomatous disease caused by mutations in the NOD2/CARD15 gene. While the classic triad of arthritis, dermatitis, and uveitis is well known, the full range of cutaneous manifestations remains underexplored.ObjectiveTo expand the understanding of cutaneous findings in Blau syndrome, correlate these findings with NOD2 variants, and evaluate treatment outcomes across organ systems.MethodsA retrospective review of medical records from January 1999 to January 2024 identified 14 patients with Blau syndrome supported by the presence of NOD2 variants. Clinical data on dermatological features, genetics, and treatment responses were analyzed and categorized into specific and non‐specific cutaneous findings.ResultsOf the 14 patients with Blau syndrome, 85% (12/14) demonstrated skin involvement. Specific findings included lichenoid or granulomatous papules and nodules (50%, 6/12), while non‐specific findings (83%, 10/12) were more diverse, including dermatitis (6/10), chronic urticaria (5/10), ichthyosiform eruptions (4/10), vasospastic disorders (5/10), and oral/genital ulcers (2/10). Skin biopsies in three patients with specific findings revealed non‐caseating granulomas. Genetic analysis identified multiple NOD2 variants, though no clear genotype–phenotype correlation was observed. TNF‐alpha inhibitors demonstrated efficacy in controlling ocular and joint disease.ConclusionBlau syndrome presents with a broader spectrum of cutaneous findings than previously recognized. These findings highlight the importance of dermatological evaluation and a multidisciplinary approach to optimize diagnosis and management.

ABSTRACTBackground/ObjectivesImmune‐mediated skin disorders, such as immunobullous dermatoses and leukocytoclastic vasculitis, rarely affect children. While direct immunofluorescence (DIF) biopsy is a standard diagnostic tool, limited data exist on pediatric DIF patterns, rates of positivity, pretest diagnostic concordance, and the relevance of biopsy site. This study sought to address these gaps.MethodsDIF data from all skin and mucosal specimens interpreted at Mayo Clinic's reference immunodermatology laboratory for patients aged 0–18 years (August 22, 2017 to November 30, 2023) were reviewed. DIF results were classified as positive if a characteristic pattern was seen and negative if the findings were negative or nondiagnostic.ResultsOf 986 pediatric DIF studies, 153 (15.5%) were positive and comparable to adult positivity rates (20.9%) during the same period. The most frequent DIF patterns were IgA‐predominant vasculitis (N = 85/153; 55.5%) and lichenoid tissue reaction (N = 21/153;13.7%). Concordance between pretest diagnosis and positive DIF results was highest for linear IgA bullous dermatosis (N = 7/7; 100%) and dermatitis herpetiformis (N = 6/6; 100%). Excluding these entities, DIF changed the pretest diagnosis in 16.7% (N = 19/114) of cases. While lower extremity biopsies were initially more likely to yield positive DIF results, this association disappeared when IgA vasculitis cases were excluded.ConclusionThe most frequent DIF pattern in children was that of IgA‐predominant vasculitis. Pediatric DIF positivity rates closely mirrored those of adults, supporting similar biopsy thresholds. DIF results differed from the pretest impression in a substantial percentage, supporting the value of DIF in select situations in the pediatric population. After controlling for IgA vasculitis, biopsy site was not associated with DIF positivity.

ABSTRACTBackgroundHidradenitis suppurativa (HS) is a chronic inflammatory condition. While obesity is linked to increased HS severity in adults, data on its impact in pediatric HS remain limited. This study investigates the relationships between obesity, HS severity, HS‐related comorbidities, and therapeutic management in pediatric patients.MethodsThis is a retrospective cohort analysis on patients diagnosed with HS before 18 years of age. Data were collected on disease severity, comorbidity development, and treatments. Trends were compared between HS patients with and without obesity and with healthy controls for comorbidity development.ResultsThere was no difference in disease severity using Hurley staging between patients with and without obesity (p = 0.679). Patients with obesity were more likely to be prescribed biologics (p = 0.012), but not other treatments. The risk of developing dyslipidemia, anxiety, depression, and thyroid disease was elevated in pediatric HS patients, even after controlling for BMI (p < 0.001).ConclusionsIn this study, obesity was not associated with HS disease severity in children. However, children with obesity were more likely to be prescribed biologics. HS may independently increase the risk of dyslipidemia, anxiety, depression, and thyroid disease.

ABSTRACT Nicotinamide adenine dinucleotide phosphate hydrate dehydratase (NAXD) and nicotinamide adenine dinucleotide phosphate hydrate epimerase (NAXE) deficiencies are rare autosomal recessive metabolic disorders characterized by severe neurological manifestations during infancy. In affected individuals, febrile illnesses can trigger progressive encephalopathy often accompanied by distinctive skin eruptions, resulting in high mortality rates. This study reviews the literature on NAXD/NAXE deficiencies, focusing on dermatological manifestations and their correlation with genotypic variations and treatment responses. A comprehensive literature search identified 45 patients with 31 pathogenic/likely pathogenic mutations, and a median age of onset at 1.16 years. Patients with NAXE deficiency exhibited a broader range of age of symptom onset compared to those affected with NAXD deficiency. Fever or infections were identified as the most common triggers for decompensation episodes. Skin manifestations were observed in 31% of patients with whole cell NAXD and NAXE deficiencies. The characteristic skin eruption comprises well‐demarcated erythematous and erosive plaques progressing to blistering and necrosis, predominantly affecting flexural surfaces. The mortality rate was 78%, with survivors experiencing varying degrees of neurological sequelae. Niacin/nicotinamide supplementation resulted in improvements in skin lesions and survival rates. The review underscores the critical role of dermatologists in early diagnosis and intervention of NAXE and NAXD deficiencies. Recognizing characteristic skin manifestations is essential, particularly in patients with acute neurological decline following infections or vaccinations. Early intervention with specific supplements shows promise; however, further research is needed to establish standardized treatment protocols and enhance patient outcomes.

AbstractLinear IgA bullous dermatosis (LABD) is a rare autoimmune blistering disorder impacting children and adults. In this single‐center retrospective chart review of pediatric patients with LABD at a large tertiary referral center, we report the unifying and unique clinical features of 10 pediatric patients. Patients typically presented with the “cluster of jewels” sign (n = 6; 60%), mucous membrane involvement (n = 5; 50%) and had a mean disease duration of 38 months; six patients (60%) required inpatient admission for management of their skin disease, including all five patients who had mucous membrane involvement. Our findings suggest that pediatric LABD may be a disease with high morbidity and may be associated with severe complications when mucous membranes are involved.

AbstractBackgroundLinear IgA bullous dermatosis (LABD) is a rare autoimmune blistering disorder that may be drug‐induced or paraneoplastic. We aim to characterize features of LABD and determine differentiating factors among idiopathic, drug‐induced, or malignancy‐associated diseases.MethodsWe conducted a single‐center retrospective chart review of adult patients with linear IgA bullous dermatosis at a large tertiary referral center and a literature review of adult linear IgA bullous dermatosis.ResultsEighty‐one patients were included in the study. Ten patients (12.3%) had comorbid malignancy and nine (11.1%) had inflammatory bowel disease. Median disease duration was significantly shorter in both drug‐induced (1.2 vs. 48.8 months; P < 0.001) and malignancy‐associated (1.7 vs. 48.8 months; P < 0.001) LABD compared with idiopathic LABD. Recurrent episodes occurred significantly more often in idiopathic LABD compared to those with drug‐induced (76.1 vs. 11.5%; P < 0.001) or malignancy‐associated disease (76.1 vs. 33.3%; P = 0.019). Time to diagnosis was significantly shorter in the drug‐induced (0.2 vs. 5.4 months; P < 0.001) and malignancy‐associated groups (0.7 vs. 5.4 months; P = 0.049) compared with idiopathic; similarly, time to improvement was significantly shorter in both drug‐induced (0.4 vs. 3.0 months; P < 0.001) and malignancy‐associated disease (1.1 vs. 3.0 months; P = 0.016). Clinical morphology was indistinguishable between groups. Limitations included retrospective data collection, data from tertiary referral centers, and limited racial and ethnic diversity.ConclusionScreening for underlying malignancy, as well as for a predisposing medication or possibly inflammatory bowel disease, may be advisable in patients with LABD, particularly when it is newly diagnosed.

AbstractBackgroundBier anemic spots, cyanosis with urticaria‐like eruption (BASCULE) syndrome is a recently described entity with episodic urticarial lesions and white anemic halos on a background of erythrocyanosis, commonly affecting the lower extremities. Possible association with autonomic dysfunction remains poorly understood. Existing publications are limited, but the condition is suggested as highly underrecognized.ObjectiveTo further characterize clinical and epidemiologic data for BASCULE syndrome.MethodsWe performed an IRB‐approved retrospective chart review on patients with BASCULE syndrome evaluated at Mayo Clinic from April 2021 to November 2022.ResultsA total of 17 patients were identified (13 female, 4 male). Median age of onset was 12 years (range 9–17). Lower extremities were involved in all patients (17). Most patients were symptomatic with pruritus (8) or burning pain (8); three were asymptomatic. Triggers were standing (11), hot showers or hot environments (7), or no clear trigger (4). Autonomic dysfunction was present in 10 patients. Treatment responses were observed from propranolol (3) and high‐dose cetirizine (1).ConclusionNovel epidemiologic data from 17 pediatric and young adult patients with BASCULE syndrome further supports an association with autonomic dysfunction and suggests a higher prevalence than previously acknowledged.

AbstractBackground/ObjectivesPediatric lichen planus (LP) is rare with variable prevalence and atypical presentations compared to adults. Data on LP are lacking for the pediatric population in the United States. We present demographics, presentations, and treatments for a pediatric LP cohort.MethodsWe reviewed 26 patients diagnosed with LP at 20 years or younger. Treatment responses were defined as no response, partial response, and complete response.ResultsDemographics included 54% females and median diagnosis age of 16 years (range 6–20). Most patients presented with cutaneous LP (65%), with fewer having associated oral (23%), nail (7.7%), or genital (3.8%) involvement. Some had cutaneous‐only LP (38%) or strictly mucosal LP (oral‐only 19% and genital‐only 15%). LP lesions were pruritic (50%), painful (19%), and/or asymptomatic (35%). Complete/partial responses occurred with medium‐potency topical corticosteroids in cutaneous (n = 7; 64%), oral (n = 3; 75%), and genital LP (n = 3; 100%), with high/ultra‐high potency topical corticosteroids in oral LP (n = 6; 86%), and with topical calcineurin inhibitors in genital LP (n = 2; 100%). Side effects were clobetasol‐related oral candidiasis and biopsy‐related penile depressed scar. Most patients with available follow‐up achieved remission (n = 17; 81%).ConclusionsPediatric LP usually presents in adolescence with cutaneous involvement and is symptomatic. However, patients frequently can have oral, genital, or nail lesions or may be asymptomatic, so they need thorough examinations and follow‐up. Long‐term remission is common due to treatment or natural disease course. Medium‐potency corticosteroids are recommended for cutaneous, oral, and genital LP. Various other local and systemic therapies exist with successful treatment responses.