Harlequin Syndrome

Harlequin Syndrome is an exceedingly rare condition, characterized by unilateral facial flushing and hyperhidrosis. Postulated to be dysregulated sympathetic nervous system stimulation of the dermal vasculature and blood vessels of the face. There is no clear unifying pathological cause. Due to its heterogeneity and rarity, very little is known about treatment of it. Hereafter we describe our experience in successfully curing right-sided Harlequin Syndrome through Video Assisted Thoracoscopic (VATS) Sympathectomy...

Interaction between native ventricular output and venoarterial extracorporeal membrane oxygenation (VA ECMO) flow may hinder oxygenated blood flow to the aortic arch branches, resulting in differential hypoxemia. Typically, the arterial cannula tip is placed in the iliac artery or abdominal aorta. However, the hemodynamics of a more proximal arterial cannula tip have not been studied before. This study investigated the effect of arterial cannula tip position on VA ECMO blood flow to the upper extremities using computational fluid dynamics simulations...

INTRODUCTION: To the best of our knowledge, this is the first case report which provides insights into patient-specific hemodynamics during veno-arterio-venous-extracorporeal membrane oxygenation (VAV ECMO) combined with a left-ventricular (LV) Impella® micro-axial pump for therapy-refractory cardiac arrest due to acute myocardial infarction, complicated by acute lung injury (ALI). PATIENT PRESENTATION: A 54-year-old male patient presented with ST-segment elevation acute coronary syndrome complicated by out-of-hospital cardiac arrest with ventricular fibrillation upon arrival of the emergency medical service...

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Harlequin syndrome is a condition in which disruption of the autonomic nervous system results in ipsilateral anhidrosis and pallor of the face. We report the first documented case of Harlequin syndrome following the use of liposomal bupivacaine, in which a patient developed symptoms five hours after a bilateral erector spinae plane (ESP) block with liposomal bupivacaine before partial sternectomy. It is additionally unique as the first report of delayed onset of symptoms. The proposed mechanism is the diffusion of the anesthetic into the paravertebral space with cephalad migration to the T2-T3 level, where facial vasomotor fibers exit the spinal cord...

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Background: The Harlequin syndrome is an idiopathic, autonomic disorder. It typically presents with unilateral sweating and flushing of the face. It could be caused not only by autonomic dysfunction or space-occupying central neuropathy, but by some clinical interventions as well. Although iatrogenic Harlequin syndrome is rare, clinicians should be aware of this condition to diagnose correctly and provide suitable assistance. Case Description: Here we report a case of iatrogenic Harlequin syndrome...

BACKGROUND: Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI...

Harlequin syndrome (HS) is a rare autonomic disorder. The causes and risk factors of the disease are not fully understood. Some cases of HS are associated with traumatic injuries, tumors, or vascular impairments of the head. Symptoms of HS can also occur in some autoimmune disorders, ophthalmic disorders, sleep disorders, and with certain organic lesions. In this context, a thorough review of the pathophysiology of HS in relation to neurological, ophthalmological, and dermatological conditions is necessary...

Harlequin syndrome corresponds to unilateral dysfunction of the sympathetic system, characterized by flush and unilateral hyperhidrosis associated with hypo or anhidrosis and paleness of the opposite side. It is, usually, idiopathic. Rarely, it may be associated with compressive organic processes, iatrogenic causes, and general diseases. It is a real therapeutic challenge.

Differential hypoxemia (DH) has been recognized as a clinical problem during veno-arterial extracorporeal membrane oxygenation (VA ECMO) although its features and consequences have not been fully elucidated. This single center retrospective study aimed to investigate the clinical characteristics of patients manifesting DH as well as the impact of repositioning the drainage point from the inferior vena cava (IVC) to the superior vena cava to alleviate DH. All patients (>15 years) commenced on VA ECMO at our center between 2009 and 2020 were screened...

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BACKGROUND: Unilateral coronal craniosynostosis (UCS) is a congenital disorder resulting from the premature suture fusion, leading to complex primary and compensatory morphologic changes in the shape of not only the calvarium and but also into the skull base. This deformity typically requires surgery to correct the shape of the skull and prevent neurologic sequelae, including increased intracranial pressure, sensory deficits, and cognitive impairment. METHODS: The present multicenter study sought to reverse-engineer the bone dysmorphogenesis seen in non-syndromic UCS using a geometric morphometric approach...

BACKGROUND: Ichthyosis describes a localized or generalized hereditary cornification disorder caused by an impaired terminal keratinocyte differentiation resulting in excessive stratum corneum with the formation of more or less adherent scales. Ichthyosis affects humans and animals. Two rare bovine forms are reported, the severe harlequin ichthyosis and the less severe congenital ichthyosis, both characterized by a severe orthokeratotic lamellar hyperkeratosis. RESULTS: A 2-weeks-old purebred Scottish Highland calf was referred because of a syndrome resembling congenital ichthyosis...

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Background: Infection of Chlamydia psittaci ( C. psittaci ) could lead to serious clinical manifestations in humans, including severe pneumonia with rapid progression, adult respiratory distress syndrome (ARDS), sepsis, multiple organ dysfunction syndromes (MODS), and probably death. Implementation of extracorporeal membrane oxygenation (ECMO) in the patient with severe ARDS gives a promising new method for recovery. Case Presentation: We report our successful use of venovenous (VV) ECMO in a 48-year-old man who manifested with severe respiratory distress syndrome, acute kidney injury, and septic shock caused by a diagnosis of pneumonia...

Functional skin barrier requires sphingolipid homeostasis; 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR gene may cause erythrokeratoderma variabilis et progressive-4, later specified as PERIOPTER syndrome, emphasizing a characteristic periorifical and ptychotropic erythrokeratoderma. We report another patient with compound heterozygous mutations in KDSR, born with generalized harlequin ichthyosis, which progressed into palmoplantar keratoderma...

Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were additionally analysed for parathyroid hormone. Vitamin D deficiency was pronounced in keratinopathic ichthyosis (n = 17; median 25(OH)D3: 10.5 ng/ml), harlequin ichthyosis (n = 2;7.0 ng/ml) and rare syndromic subtypes (n = 3; 7.0 ng/ml). Vitamin D levels were reduced in TG1-proficient lamellar ichthyosis (n = 15; 8...

Harlequin syndrome (HS) is a rare entity derived from the dysfunction of the sympathetic nervous system. It is characterised by unilateral facial flushing and sweating induced by exercise, heat and emotion. Most cases are primary with an unknown pathogenic mechanism. In these cases, the prognosis is favourable. Medical or surgical treatments are not usually required for idiopathic HS. However, symptomatic treatment may be indicated when symptoms affect the quality of life of patients. We present the case of a patient with idiopathic HS successfully treated with oxybutynin and propranolol...

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