Bier anemic spots, cyanosis, and urticaria-like eruption (BASCULE) syndrome in a 15-year-old male, responsive to high-dose fexofenadine.

We describe an unusual presentation of Bier anemic spots, cyanosis, and urticaria-like eruption (BASCULE) syndrome in a 15-year-old male, recalcitrant to low-dose anti-histamines, which subsequently responded to high-dose fexofenadine.

Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome. STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

Pearls and updates: cutaneous signs of systemic malignancy.

PURPOSE OF REVIEW: Children with systemic malignancies can present with concomitant dermatological manifestations. Cutaneous findings can occur before, during or after diagnosis. Recognizing these features can aid in diagnosis, inform prognosis, and help determine appropriate treatment. Following a review of the literature published over the past two years, we provide an update on cutaneous signs of pediatric systemic malignancies, concentrating on; leukemia cutis, lymphoma cutis, neuroblastoma, sarcomas, Langerhans cell histiocytosis and paraneoplastic syndromes. RECENT FINDINGS: Authors highlight the persistently heterogeneous features of cutaneous manifestations of systemic malignancy. Findings are often nonspecific, and a definitive diagnosis requires skin biopsy with immunophenotyping. Several studies describe dermoscopy features, demonstrating this as a useful tool in clinical evaluation. Genetic mutations underlying the pathogenesis of disease continue to be elucidated. Further, advances in medical treatment led to improved prognosis in many systemic malignancies, with early and aggressive treatment heralding better outcomes. SUMMARY: Comprehensive cutaneous evaluation alongside thorough clinical history and review of systems remains of paramount importance as dermatological manifestations of systemic malignancy are notoriously variable with a shared feature of often appearing benign but persisting despite usual treatment. Urgent referral to dermatology is recommended when suspicion for any cutaneous presentation of malignancy arises.