PA12 BASCULE syndrome in an adolescent with complex spinal dysraphism

Abstract

Bier anaemic spots, cyanosis and urticaria-like eruption (BASCULE) syndrome is a rare, under-recognized benign vasomotor dermatosis of childhood and adolescence. First described in 2016, it is characterized by posture-induced Bier anaemic macules on a cyanotic background with associated urticaria-like lesions. The condition is frequently misdiagnosed, leading to unnecessary investigations. The pathophysiology remains poorly understood, although associations with orthostatic intolerance and autonomic dysfunction have been reported. We report the case of a 15-year-old girl with a 3-year history of painful, pruritic purple discoloration of the lower limbs and hands triggered by standing and resolving with recumbency. These were often accompanied by tachycardia and sweating. Her past medical history included a significant background of complex spinal dysraphism including spina bifida, split cord malformation, syringomyelia and prior spinal surgeries with associated neuropathic bladder and bowel dysfunction. Extensive investigations including full blood tests, echocardiography, 24-h electrocardiogram and active stand test performed prior to dermatology referral were unremarkable. There was no evidence of postural orthostatic tachycardia syndrome or orthostatic hypotension. On examination of the lower limbs, Bier anaemic spots, erythrocyanosis and urticaria-like lesions triggered by orthostatism were observed, in keeping with a diagnosis of BASCULE syndrome. Symptomatic management with antihistamines, compression stockings and avoidance of prolonged standing led to partial improvement in symptoms. We present a unique paediatric case of BASCULE syndrome in an adolescent with complex congenital spinal pathology and highlight a potential link between spinal dysraphism and autonomic instability contributing to disease manifestation. This case expands the clinical spectrum of BASCULE syndrome and raises the possibility that underlying congenital spinal pathology and autonomic dysfunction may predispose to its development, a relationship not previously well described in the literature. Increased awareness of BASCULE syndrome within paediatric dermatology is essential to facilitate prompt clinical diagnosis, avoid unnecessary investigations and provide appropriate reassurance and management.