A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also involved in DNA repair. Using exome sequencing, we identified a de novo pathogenic variant in MORC2 in our patient. Our patient's phenotype was characterized by multiple features evocative of Cockayne syndrome. Based on our patient's phenotype, in addition to the phenotypic description of patients with pathogenic variants in MORC2 reported in the literature, we suggest that pathogenic variants in this gene are associated with a Cockayne-like phenotype.

Vulvar swelling and the timely diagnosis of Crohn's disease: A case report.

Children with vulvar swelling often present to multiple physicians and face a prolonged period of ambiguity and extraneous treatments. Here, we report a case of an 8-year-old girl who presented to the dermatology clinic with a 2-month history of vulvar swelling and was ultimately diagnosed with Crohn's disease. Although extra-intestinal manifestations are common in inflammatory bowel diseases, they rarely present before an existing diagnosis. This report highlights this potential early manifestation and demonstrates how timely diagnosis leads to improved outcomes for patients, their families, and healthcare systems.

A double-blind, randomized prospective study evaluating topical clobetasol propionate 0.05% versus topical tacrolimus 0.1% in patients with vulvar lichen sclerosus.

BACKGROUND: Vulvar lichen sclerosus is a chronic condition usually responsive to topical corticosteroids. OBJECTIVE: We sought to evaluate the efficacy (reduction of signs and symptoms) and safety of clobetasol propionate 0.05% and tacrolimus 0.1% in the treatment of vulvar lichen sclerosus. METHOD: This double-blind, randomized study comparing 2 treatments over a 3-month period, enrolled 58 female patients with newly diagnosed vulvar lichen sclerosus or untreated vulvar lichen sclerosus for at least 1 month. RESULTS: In all, 55 patients were included in the statistical analysis. A total of 28 patients were assigned to the tacrolimus group and 27 patients to the clobetasol group. Both groups showed a significant difference in the decrease of symptoms and signs of lichen sclerosus. At the end of the study, 28 participants (19 tacrolimus and 9 clobetasol) still had some clinical signs of lichen sclerosus (χ(2) = 6.56, P = .015). However, a significantly higher number of patients in the clobetasol group (n = 15) had absence of signs and symptoms of lichen sclerosus (χ(2) = 10.35, P = .002; χ(2) = 10.35, P = .002). No adverse events were reported. LIMITATIONS: Short length of trial and recruitment through our vulvar disease referral center are limitations. CONCLUSION: This study showed that topical clobetasol propionate was significantly more effective in treating vulvar lichen sclerosus than topical tacrolimus.

Large congenital melanocytic nevi and neurocutaneous melanocytosis: one pediatric center's experience.

BACKGROUND: Large congenital melanocytic nevi (LCMN) predispose to neurocutaneous melanocytosis (NCM), which is associated with significant morbidity and mortality. OBJECTIVE: To identify risk factors for NCM in patients with LCMN and suggest guidelines for their management. METHODS: Medical records of patients with LCMN were reviewed at Sainte-Justine Hospital between 1980 and 2006. Presence of multiple satellite nevi and posterior midline location were evaluated as risk factors for NCM using chi-square test. Magnetic resonance imaging scans were reviewed by a neuroradiologist. RESULTS: Twenty-six of 52 patients underwent radiologic investigation. Six of 26 (23%) had NCM. Patients with this condition are more likely to have multiple satellite nevi (100% vs 50%, P = .03) and have a trend to posterior midline location of their LCMN (100% vs 60%, P = .08). Patients with NCM are more likely to have both multiple satellite nevi and posterior midline location (100% vs 25%, P = .002). Radiologic findings are also presented. LIMITATIONS: This was a retrospective case series with imprecise chart data in 38% of cases. CONCLUSION: The presence of multiple satellite nevi alone or with associated posterior midline location of LCMN is associated with a higher risk of NCM. We recommend magnetic resonance imaging testing before 4 months of age in patients with these features.

Diffuse dermatitis: An unexpected initial presentation of cystic fibrosis.

Cystic fibrosis is an autosomal recessive disease that typically presents with pulmonary symptoms. Diffuse rash related to protein energy malnutrition can rarely be a presenting sign of cystic fibrosis in infancy. We report such a case and relate the difficulties of establishing a diagnosis. We also discuss possible pathophysiological mechanisms, histopathology, prognosis, and treatment.