Bridging the gap in BASCULE syndrome: A retrospective case series of a recently described clinical entity.

BACKGROUND: Bier 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. OBJECTIVE: To further characterize clinical and epidemiologic data for BASCULE syndrome. METHODS: We performed an IRB-approved retrospective chart review on patients with BASCULE syndrome evaluated at Mayo Clinic from April 2021 to November 2022. RESULTS: A 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). CONCLUSION: Novel 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.

Association of BRAF V600E Status of Incident Melanoma and Risk for a Second Primary Malignancy: A Population-Based Study.

Mutations of the BRAF oncogene occur in both melanomas and several other cancers. Our objective was to determine if mutant BRAF V600E expression in a population-based cohort of patients with melanoma was associated with the development of a second primary malignancy of any type. Using the resources of the Rochester Epidemiology Project, we retrospectively identified 380 patients aged 18 to 60 years who were diagnosed with an incident melanoma from 1970 through 2009. We reviewed individual medical records to identify second primary malignancies. We evaluated mutant BRAF V600E expression from available melanoma tissue specimens and assessed its association with the development of a second primary malignancy. BRAF V600E expression in melanomas is associated with an increased risk for basal cell carcinoma (BCC).

Treatment of morphea with hydroxychloroquine: A retrospective review of 84 patients at Mayo Clinic, 1996-2013.

BACKGROUND: Few studies support treating morphea (localized scleroderma) with hydroxychloroquine. OBJECTIVE: To assess the efficacy of hydroxychloroquine treatment of morphea. METHODS: We conducted a retrospective study of 84 patients who had morphea and were treated with hydroxychloroquine monotherapy for at least 6 months at our institution from 1996 through 2013. The median times to initial and maximal responses were assessed. RESULTS: Of the 84 patients (median age at diagnosis, 29.5 years), 65 (77.4%) were female, 36 (42.9%) had a complete response to hydroxychloroquine, 32 (38.1%) had a partial response greater than 50%, 10 (11.9%) had a partial response less than or equal to 50%, and 6 (7.1%) had no response. The median time to initial response was 4 months, and the median time to maximal response was 12 months. Ten patients (11.9%) experienced adverse effects from hydroxychloroquine; the most common adverse effect was nausea (6 patients). LIMITATIONS: Retrospective study. CONCLUSIONS: Hydroxychloroquine is a valuable treatment for morphea because of its high response rate and low rate of adverse effects; however, prospective studies are needed to determine its true efficacy.

Combining Immune Checkpoint Inhibitors With Conventional Cancer Therapy.

Immune checkpoint inhibitors (ICIs) have recently revolutionized cancer treatment, providing unprecedented clinical benefits. However, primary or acquired therapy resistance can affect up to two-thirds of patients receiving ICIs, underscoring the urgency to elucidate the mechanisms of treatment resistance and to design more effective therapeutic strategies. Conventional cancer treatments, including cytotoxic chemotherapy, radiation therapy, and targeted therapy, have immunomodulatory effects in addition to direct cancer cell-killing activities. Their clinical utilities in combination with ICIs have been explored, aiming to achieve synergetic effects with improved and durable clinical response. Here, we will review the immunomodulatory effects of chemotherapy, targeted therapy, and radiation therapy, in the setting of ICI, and their clinical implications in reshaping modern cancer immunotherapy.

Premature Graying of Hair: Review with Updates.

Premature graying of hair (PGH) is defined as graying of hair before the age of 20 years in Caucasians and before 30 years in African American population. It can severely affect the self-esteem of an individual. The exact etiopathogenesis remains unknown, although it has been associated with premature aging disorders, atopy, and autoimmune diseases. Patients, who present with PGH, should be assessed for syndromes and metabolism diseases. Hair dyes remain the main modality of the treatment for cosmetic concerns after nutritional supplementation.