Citations

AbstractBackgroundFollicular mucinosis (FM) is a rare disease characterized by mucin accumulation in the follicular unit. FM's etiology is still widely debated since its first description in 1957. Follicular mucinosis is usually reported to be benign in children, although reports of malignant transformation, most commonly mycosis fungoides, exist. The present project aims to demonstrate that children with a diagnosis of follicular mucinosis have positive long‐term outcomes and do not develop mycosis fungoides.Materials and methodsThis is a retrospective cohort study where patients with a diagnosis of follicular mucinosis ages 22 years and below were identified. Data surrounding the patient's diagnosis of FM, differential diagnosis, treatments, and long‐term outcomes were collected. Patients who were lost to follow‐up were contacted by phone for an update on the status of their skin and overall health.ResultsOut of 14 patients with follow‐up information, none developed subsequent mycosis fungoides or other hematologic malignancies.ConclusionPediatric patients with follicular mucinosis will likely present with limited disease and not experience malignant transformation.

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.

Abstract Background Pemphigoid gestationis (PG) and polymorphic eruption of pregnancy (PEP) are pregnancy‐related dermatoses. Definitive diagnosis often relies upon histopathology and direct immunofluorescence (DIF). PG is associated with fetal and neonatal risks, while PEP confers minimal risk. Objective We aimed to compare histopathologic features to determine key differentiators. Methods A retrospective cohort study of PG and PEP cases, with accompanying DIF, conducted from 1995 to 2020. Skin biopsies were examined independently in a blinded fashion by two dermatopathologists for a list of histopathological features. Results Twenty‐one cases of PG and 10 cases of PEP were identified. PG had significantly denser eosinophils than PEP (mean 155 vs. 48 cells/5 hpf; p < 0.018). PG was also noted to have eosinophilic spongiosis and eosinophils at the dermal–epidermal junction more frequently compared to PEP (80% PG vs. 10% PEP; p < 0.001). A mean cutoff value of 86 eosinophils and a mean optimal sensitivity and specificity of 81% and 83%, respectively, for eosinophils density's diagnostic power of PEP versus PG were achieved. Subepithelial separation was exclusively seen in PG (40% vs. 0%; p < 0.007). Conclusion Eosinophilic spongiosis, eosinophilic epitheliotropism, and dense superficial dermal eosinophils were diagnostic of PG. Given overlapping clinicopathologic features, however, DIF results with clinicopathologic correlation, remain the gold standard.

Background: Autoimmune progesterone dermatitis (APD) is a rare hypersensitivity disorder characterized by recurring dermatologic manifestations during the luteal phase of the menstrual cycle in women. Well-defined clinical and diagnostic criteria, outcomes measurements, and standard treatments are lacking. Methods: We performed a single-institution retrospective review of adult patients (older than 20 years at the time of diagnosis) with APD. Results: Fourteen patients were included with mean age of clinical onset of 34.3 ± 7.7 (range 24-54) years. There was a delay of 3.9 ± 5.5 (range 0.4-20) years between the onset of disease symptoms and diagnosis. The onset of APD was after exposure to exogenous progesterone in 9 of 14 patients. Progesterone skin test was performed in 9 patients and 6 were positive. Patients frequently presented with urticaria (9/14, 64.3%) and dermatitis (4/14, 28.6%). Continuous combined oral contraceptives (4/14, 28.6%), gonadotropin-releasing hormone agonist (3/14, 21.4%), and hysterectomy with bilateral salpingo-oophorectomy (2/14, 14.3%) were the most common attempted treatments with reliable outcomes. Conclusions: APD is a rare disorder which lacks universal diagnostic measures and criteria, contributing to a significant delay in diagnosis. Large-scale multicenter studies are needed to develop accurate tests, establish diagnostic criteria, and define treatment outcomes.

AbstractBackground/ObjectivesBasal cell nevus syndrome (BCNS) is an autosomal dominant skin cancer predisposition syndrome associated with abnormal mineral metabolism, a risk factor for urinary stone disease (USD). However, no research investigating the association between BCNS and USD or other manifestations of abnormal mineral metabolism has been conducted. The objective of this study is to investigate the association between BCNS and conditions associated with disordered mineral metabolism including USD, hypothyroidism, and osteoporosis and compare them to prevalence in the general population to elucidate potential unknown manifestations of the condition.MethodsThis retrospective study examined medical records of adult and pediatric patients with confirmed BCNS from the Mayo Clinic database from 1 January 1995 to 12 January 2020. Records were surveyed for evidence of USD and other comorbidities potentially related to BCNS. The studied cohort included 100 adult patients and 5 pediatric patients.ResultsA total of 105 patients were included in this analysis, 10 of whom experienced confirmed USD, representing a prevalence of 10%. Six adult patients were identified with a diagnosis of osteoporosis, representing a prevalence of 6%. Thirteen adult patients were identified with a diagnosis of hypothyroidism, representing a prevalence of 13%.ConclusionsThis study identified a prevalence of USD in BCNS patients comparable to estimates of national prevalence, indicating that known abnormalities in mineral metabolism likely do not increase the incidence of USD in BCNS patients. Additional findings included increased prevalence of hypothyroidism and decreased prevalence of osteoporosis in the BCNS cohort compared to national averages.