title: Intractable vascular autonomic dysregulation (Harlequin phenomenon) in two brothers: another indication for propranolol?
abstract: Vascular autonomic dysregulation, in the most extreme presentation known as Harlequin phenomenon, is a rare condition. It manifests as a sudden and brief paroxystic change in skin color, resulting in two different colors on the body. It is supposed that this condition occurs due to a vasomotor instability. This again is caused by sympathetic disautonomy, which is a consequence of hypothalamic peripheral vascular tone control immaturity in the newborn. Typically, there is spontaneous regression. We describe two brothers who both had this condition in their first life years. Clinical symptoms included frequent attacks of discoloration of extremities (up to four times per day) accompanied with terrifying crying fits, interpreted by the parents as pain. These patients were treated with propranolol, a nonselective beta-blocker, resulting in improvement of symptoms: only occasional attacks were seen. Beta-blockers act on β1 -adrenoceptors in the heart, thereby preventing the positive chronotropic and inotropic effects mediated by these receptors. We hypothesize that propranolol, which is very lipophilic and therefore also acts on β-receptors of the central nervous system, acts on the sympathetic system.
authors.affiliation: Department of Pediatric Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands; Division of Pediatric Dermatology, Department of Pediatrics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands; KinderHaven, Havenziekenhuis, Rotterdam, The Netherlands.
authors.forename: S R
authors.initials: SR
authors.lastname: Janmohamed
authors.forename: G C
authors.initials: GC
authors.lastname: Madern
authors.forename: P C J
authors.initials: PC
authors.lastname: de Laat
authors.forename: A P
authors.initials: AP
authors.lastname: Oranje
mesh_terms: D000319:Adrenergic beta-Antagonists / Q000737:chemistry / Q000494:pharmacology / Q000627:therapeutic use*; D001342:Autonomic Nervous System Diseases / Q000188:drug therapy* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D010859:Pigmentation Disorders / Q000188:drug therapy* / Q000209:etiology; D011433:Propranolol / Q000737:chemistry / Q000494:pharmacology / Q000627:therapeutic use*; D035781:Siblings; D016896:Treatment Outcome
chemical_list: D000319:Adrenergic beta-Antagonists; D011433:Propranolol
keywords: Harlequin phenomenon; beta-blocker; propranolol; therapy; vascular autonomic dysregulation