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Harlequin Reaction

MedGen UID:
822594
•Concept ID:
C3829846
•
Finding

Definition

Transient blanching of the lower half of the body while in the lateral recumbent position, most commonly seen in premature or low birth weight infants. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHarlequin Reaction

Recent clinical studies

Etiology

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E
Arch Dermatol 2011 Jun;147(6):681-6. Epub 2011 Feb 21 doi: 10.1001/archdermatol.2011.9. PMID: 21339420

Diagnosis

Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML
Arch Dermatol 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351. PMID: 18347291
Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
Akiyama M, Sakai K, Sato T, McMillan JR, Goto M, Sawamura D, Shimizu H
Dermatology 2007;215(2):155-9. doi: 10.1159/000104269. PMID: 17684380
The "harlequin" sign and congenital Horner's syndrome.
Morrison DA, Bibby K, Woodruff G
J Neurol Neurosurg Psychiatry 1997 Jun;62(6):626-8. doi: 10.1136/jnnp.62.6.626. PMID: 9219751Free PMC Article
Unilateral loss of facial flushing and sweating with contralateral anhidrosis: harlequin syndrome or Adie's syndrome?
Caparros-Lefebvre D, Hache JC, Hurtevent JF, Dereeper O, Billé F, Petit H
Clin Auton Res 1993 Aug;3(4):239-41. doi: 10.1007/BF01829012. PMID: 8292878

Therapy

Endogenous β-glucocerebrosidase activity in Abca12⁻/⁻epidermis elevates ceramide levels after topical lipid application but does not restore barrier function.
Haller JF, Cavallaro P, Hernandez NJ, Dolat L, Soscia SJ, Welti R, Grabowski GA, Fitzgerald ML, Freeman MW
J Lipid Res 2014 Mar;55(3):493-503. Epub 2013 Nov 30 doi: 10.1194/jlr.M044941. PMID: 24293640Free PMC Article
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E
Arch Dermatol 2011 Jun;147(6):681-6. Epub 2011 Feb 21 doi: 10.1001/archdermatol.2011.9. PMID: 21339420
Harlequin ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis.
Chan YC, Tay YK, Tan LK, Happle R, Giam YC
Pediatr Dermatol 2003 Sep-Oct;20(5):421-6. doi: 10.1046/j.1525-1470.2003.20511.x. PMID: 14521561
The "harlequin" sign and congenital Horner's syndrome.
Morrison DA, Bibby K, Woodruff G
J Neurol Neurosurg Psychiatry 1997 Jun;62(6):626-8. doi: 10.1136/jnnp.62.6.626. PMID: 9219751Free PMC Article
Autonomic seizures in an infant: unusual cutaneous and cardiac manifestations.
Zelnik N, Nir A, Amit S, Iancu TC
Dev Med Child Neurol 1990 Jan;32(1):74-8. doi: 10.1111/j.1469-8749.1990.tb08470.x. PMID: 2298339

Prognosis

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E
Arch Dermatol 2011 Jun;147(6):681-6. Epub 2011 Feb 21 doi: 10.1001/archdermatol.2011.9. PMID: 21339420
Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
Akiyama M, Sakai K, Sato T, McMillan JR, Goto M, Sawamura D, Shimizu H
Dermatology 2007;215(2):155-9. doi: 10.1159/000104269. PMID: 17684380
The "harlequin" sign and congenital Horner's syndrome.
Morrison DA, Bibby K, Woodruff G
J Neurol Neurosurg Psychiatry 1997 Jun;62(6):626-8. doi: 10.1136/jnnp.62.6.626. PMID: 9219751Free PMC Article

Clinical prediction guides

Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML
Arch Dermatol 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351. PMID: 18347291
Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
Akiyama M, Sakai K, Sato T, McMillan JR, Goto M, Sawamura D, Shimizu H
Dermatology 2007;215(2):155-9. doi: 10.1159/000104269. PMID: 17684380
The "harlequin" sign and congenital Horner's syndrome.
Morrison DA, Bibby K, Woodruff G
J Neurol Neurosurg Psychiatry 1997 Jun;62(6):626-8. doi: 10.1136/jnnp.62.6.626. PMID: 9219751Free PMC Article

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