Harlequin Color Change Research Articles

Congenital Insensitivity to Pain With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study.

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy (HSAN) type IV, is an extremely rare autosomal recessive congenital condition characterized by the loss of sensation to pain and absence of sweating with one case report linking this with harlequin color change. To explore the relationship further, we developed a survey using the Research Electronic Data Capture software and distributed it to families and others with close relationships and knowledge of patients with CIPA. Our results indicate that harlequin color change, characterized by unilateral flushing of the face and/or body, was significant and noted by all respondents as being present early in the condition appearing around the same time as first symptoms and around or before diagnosis of CIPA. Future clinicians should be aware of this dermatological phenomenon and its potential association with CIPA patients, especially during early disease manifestation where diagnosis can be difficult.

Prostaglandin E1-induced urticaria with harlequin change in a neonate with transposition of great vessels: A case report

Prostaglandin E1 (PGE1) is an emergency drug used in neonates with critical congenital heart diseases (CHDs) to maintain the ductal patency. There are many adverse effects of this drug explained – cutaneous side effects being one of them, of which limited literature is available. In this case report, we describe a term neonate with critical CHD, started on PGE1 infusion to maintain ductal patency. Baby developed erythematous migratory annular rashes to harlequin colour change in a dose-dependent manner. The severity of rashes decreased, and there was a complete resolution with tapering down of drug doses to a minimum level to maintain a ductal patency. No antihistamines or steroids were administered for the treatment. The PGE1 should be tapered to a minimum dose to maintain the required saturation in case of severe cutaneous reaction and should not be stopped abruptly as it is a lifesaving drug in critical CHD.

Harlequin Color Change in a Neonate Positive to COVID-19: Case Report

Background: Harlequin color change is a benign, idiopathic, self-limiting disorder characterized by an appearance of skin divided into two distinctly colored areas. Its etiology is unknown but thought to be caused by immaturity of hypothalamic regulation of peripheral vascular tone. COVID-19 infection in neonates is infrequent and rarely symptomatic, with only a few cases described in the literature. In isolation, both conditions have low incidence. This is the first case reported in the world literature of harlequin color change in a newborn who tested positive for COVID-19. There isn’t a single publication that links harlequin color change to COVID-19, yet. The Case: Newborn of a 34-year old mother. Who at 3 hours of life presented progressive respiratory distress with whimpering and cyanosis. At 20 hours presented a sudden color change in the right hemibody with unilateral hyperemia and contralateral pallor, simultaneous with a demarcated line separating the left and right sides of the body, involving the trunk, extremities and face, this remained for 10 minutes and then began to fade on its own until it disappeared completely. There were no changes in vital parameters associated with this phenomenon. Only one episode was reported. The transient character and the strict unilateral distribution of the manifestations did not confirm any etiology other than Harlequin phenomenon. Subsequently the patient evolved to respiratory deterioration, multiorgan failure (SOFA: 21), died at 22 days of life due to respiratory arrest.
 Conclusion: This is the first ever documented case in worldwide literature of harlequin color change in a neonate positive to COVID-19. Given the low incidence of both entities in isolation and the fact that they were discovered in the same patient, we suggest a strong possibility of SARS-CoV-2 to be the source of the harlequin phenomena in this case and should be considered as an indicator of severe COVID in newborns, but further studies that expand the selection of patients with this condition are needed. There is no literature linking the harlequin phenomenon with COVID-19.

Harlequin color change in the delivery room

Harlequin color change in the delivery room

A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report

BackgroundParoxysmal extreme pain disorder (PEPD) is a rare autosomal dominant hereditary disease, characterized by paroxysmal burning pain in the rectum, eyes or mandible and autonomic nervous symptoms, including skin redness and bradycardia. PEPD is a sodium channel dysfunctional disorder caused by SCN9A gene variants. It occurs mainly in Caucasians and only one case has been reported in the Chinese population. Here, we report the second PEPD case in a Chinese indivisual.Case presentationA 2 years and 6 months old girl initially presented with non-epileptic tonic seizures at 7 days after birth. Her clinical symptoms in order of presentation were non-epileptic tonic seizures, harlequin color change and pain. Genetic analysis showed the patient carried a heterozygous variant c.4384T>A (p.F1462I) in the SCN9A gene, which was speculated to cause PEPD symptoms. After administrating carbamazepine, the symptoms were relieved and the patient's condition improved. However, the patient’s mother, who carries the same SCN9A variant as her daughter, only showed bradycardia and sinus arrest but no PEPD-related pain.ConclusionsThis is the second PEPD case reported in the Chinese population. With the discovery of a novel variant in SCN9A, we expanded the genotype spectrum of PEPD. This is the first case suggesting that the clinical presentations of SCN9A-associated PEPD may show inter familial phenotypic diversity. In the future of clinical diagnosis, patients with triggered non-epileptic tonic seizures or pain and harlequin color change should be considered for PEPD and proper and prompt treatment should be given.

Neonatal Harlequin color change associated with Prostaglandin E1 administration.

Neonatal Harlequin color change associated with Prostaglandin E1 administration.

Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation \u2013 case report

BackgroundTo describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G > T (p.Val1298Phe) in the SCN9A gene. Clinical examinations and details from members of one Polish family were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time.Case presentationTwenty two individuals from this family with paroxysmal extreme pain disorder were identified. Seven of them presented clinical manifestation of paroxysmal extreme pain disorder, of which and in four were identified missens mutations in the SCN9A gene (NM_002977.3:c.3892G > T). The onset of the disorder took place in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate with extreme pain, skin flushing and harlequin colour change were observed in all. Attacks of excruciating deep burning pain often appear in the rectal, or jaw areas, but also diffuse in the body. Attacks are triggered by factors such as: defecation, eating, pressure and emotion. Carbamazepine and other antiepileptic drugs were only partly effective in almost all, but the response was incomplete.ConclusionsParoxysmal extreme pain disorder is a hereditary sodium channelopathy with pain and an autonomic nervous system dysfunction. Paroxysmal extreme pain disorder is rare, so far only 500 cases of both women and men have been described in world literature.

Harlequin color change in a neonate with meningitis

Harlequin color change in a neonate with meningitis

Farklı Bir Palyaço Renk Değişikliği Olgusu

Harlequin colour change is a transient condition that alarms parents usually. The skin area that infant lay on is erythematous, other part is pale and there is a sharp boundary in the middle of the body. Sometimes it does not occur on face and genital area, mucous membranes. Erythema and pallor replace by changing position. It is thought that the cause of it is vasodilatation due to lack of vascular tone depending on immature hypothalamic or sympathetic system. It is also reported that this condition may develop depending on traumas preponderant to sympathetic chain, tumours and vascular pathologies. We have reported a case due to it has differences about clinical presentation between other reported cases.

Harlequin colour change in a neonate with perinatal asphyxia: An unusual pattern

Harlequin colour change in a neonate with perinatal asphyxia: An unusual pattern

Harlequin color change in two preterm newborns

Harlequin color change is a benign transient skin change usually seen in the neonatal period with unknown etiology. It has been rarely reported in preterm infants. Herein, we report two cases of harlequin color change developed in premature infants without any adverse consequences. During the event, one infant was receiving antibiotic treatment for an Escherichia coli bacteremia in addition to routine supportive care and the other one was in a very stable condition. Both preterm infants were also diagnosed to have a patent ductus arteriosus. As a benign transient skin change, harlequin color change should be recognized properly to avoid unnecessary treatment.

V05 Poster location 005 A novel SLC2A1 mutation causing paroxysmal exercise-induced dyskinesia and childhood absence seizures

apnoea in the post-operative (inguinal hernia repair) period needing ventilation. Recurrent episodes of apnoea, bradycardia, and sometimes asystole needing cardio-pulmonary resuscitation (CPR) ensued. Initially these episodes were thought to be triggered by the act of opening his bowels with contraction of abdominal wall muscles along with intermittent yellowishgreen discolouration of scrotum but no clear Harlequin colour change was seen (video). This would progress to apnoea, bradycardia and eventually asystole needing resuscitation from bag and face mask ventilation to full CPR. He had very stiff and hypertrophied abdominal muscles, increased tone and arthrogryposis of limbs. He did not have an exaggerated startle. Deep tendon reflexes appeared myotonic (video). Hyperekplexia, paroxysmal episodic pain disorder (PEPD), neuromyotonia were considered in the differential and tested for. EMG was normal. He had normal MRI (brain and cervical spine) and EEG. Results of genetic testing for hyperekplexia and PEPD were normal along with other neurometabolic investigations. The muscle biopsy revealed nemaline rods. A novel mutation of ACTA1 gene, heterozygous c.984G>C; p. Lys328Asn sequence variant was detected in exon 5. Despite various pharmacological and supportive interventions he died aged 9 months. This is a genetically and phenotypically heterogeneous rare form of congenital myopathy, which is characterized by slow or non-progressive muscle weakness and pathognomonic abnormal rod-like structures within the affected muscle fibers. Our case adds to the protean presentation of nemaline myopathy being only the second case in the literature with clinical features of stiffness rather than weakness.

Transient Neonatal Dermatoses- Mostly Physiological

Skin rashes are common in the neonate and can cause parental anxiety. Many of these are transient and physiological, but some may require additional work up to rule out a more serious disorder. Hence it is important for the pediatrician to recognize these physiological states that can present in a normal neonate. Mongolian spots, milia, miliaria, Epstein pearls, physiological scaling of the skin and seborrheic dermatitis are some of the commonest skin lesions. Cutis marmorata and harlequin color change are transient vascular phenomena seen in neonates. Acne neonatorum, erythema toxicum neonatorum and transient neonatal pustular melanoses are transient vesiculopustular rashes that can be diagnosed clinically. However neonates with unusual presentations or signs of systemic illness should be evaluated for fungal, particularly candidial, viral, and bacterial infections.

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)

To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures.

Harlequin colour change in the newborn.

Acta Obstetricia et Gynecologica ScandinavicaVolume 38, Issue 3 p. 352-358 Harlequin Colour Change in the Newborn Ole Mortensen, Ole Mortensen State Maternity Hospital, University of Aarhus, DenmarkSearch for more papers by this authorP. Stougård-Andresen, P. Stougård-Andresen State Maternity Hospital, University of Aarhus, DenmarkSearch for more papers by this author Ole Mortensen, Ole Mortensen State Maternity Hospital, University of Aarhus, DenmarkSearch for more papers by this authorP. Stougård-Andresen, P. Stougård-Andresen State Maternity Hospital, University of Aarhus, DenmarkSearch for more papers by this author First published: January 1959 https://doi.org/10.3109/00016345909157992Citations: 5AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume38, Issue3January 1959Pages 352-358 RelatedInformation

Harlequin color change in a young infant with tricuspid atresia

Harlequin color change in a young infant with tricuspid atresia