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Harlequin fetus(HI)

MedGen UID:
116092
•Concept ID:
C0239849
•
Disease or Syndrome
Synonyms: Baby Syndrome, Harlequin; Baby Syndromes, Harlequin; Fetus, Harlequin; Harlequin Baby Syndrome; Harlequin Baby Syndromes; Harlequin Fetus; Harlequin Ichthyoses; Harlequin Ichthyosis; Ichthyoses, Harlequin; Ichthyosis, Harlequin; Syndrome, Harlequin Baby; Syndromes, Harlequin Baby
SNOMED CT: Harlequin foetus (268245001); Harlequin ichthyosis (205548006); Harlequin fetus (268245001)
 
OMIM®: 242500

Definition

A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

An overview of interleukin-1 receptor antagonist, anakinra, in the treatment of cutaneous diseases.
Pazyar N, Feily A, Yaghoobi R
Curr Clin Pharmacol 2012 Nov;7(4):271-5. doi: 10.2174/157488412803305821. PMID: 22794157
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.
Gruber R, Elias PM, Crumrine D, Lin TK, Brandner JM, Hachem JP, Presland RB, Fleckman P, Janecke AR, Sandilands A, McLean WH, Fritsch PO, Mildner M, Tschachler E, Schmuth M
Am J Pathol 2011 May;178(5):2252-63. doi: 10.1016/j.ajpath.2011.01.053. PMID: 21514438Free PMC Article
Treatment of lamellar ichthyosis and other keratinising dermatoses with an oral synthetic retinoid.
Peck GL, Yoder FW
Lancet 1976 Nov 27;2(7996):1172-4. doi: 10.1016/s0140-6736(76)91685-8. PMID: 62999

Recent clinical studies

Etiology

A collodion baby with hypothyroidism.
Dogan DG, Aslan M, Karabiber H
Genet Couns 2010;21(3):343-6. PMID: 20964127
Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach.
Bongain A, Benoit B, Ejnes L, Lambert JC, Gillet JY
Ultrasound Obstet Gynecol 2002 Jul;20(1):82-5. doi: 10.1046/j.1469-0705.2002.00708.x. PMID: 12100425
Etretinate in the management of harlequin siblings.
Pejaver RK, Prasad RS, Garg AK, Jelly A, Shawkat S
Indian J Pediatr 1998 Mar-Apr;65(2):320-3. doi: 10.1007/BF02752311. PMID: 10771980
Long-term survival of a harlequin fetus.
Roberts LJ
J Am Acad Dermatol 1989 Aug;21(2 Pt 2):335-9. doi: 10.1016/s0190-9622(89)80029-5. PMID: 2754067
Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma.
Lawlor F
Pediatrics 1988 Dec;82(6):870-3. PMID: 3186377

Diagnosis

Harlequin fetus: A case report.
Londhe MM, Patil TV, Suryawanshi KH
Indian J Pathol Microbiol 2022 Apr-Jun;65(2):462-464. doi: 10.4103/IJPM.IJPM_1150_20. PMID: 35435396
Harlequin Fetus in a Twin Pregnancy: An Extremely Rare Presentation.
Bari AU, Najmi SUA
J Coll Physicians Surg Pak 2020 Jun;30(6):652-654. doi: 10.29271/jcpsp.2020.06.652. PMID: 32703355
A rare case of collodion baby with ophthalmic involvement.
Bhardwaj U, Phougat A, Dey M, Raut S, Srivastav G, Gupta Y
Nepal J Ophthalmol 2012 Jan-Jun;4(1):184-6. doi: 10.3126/nepjoph.v4i1.5874. PMID: 22344020
Collodion baby concomitant with congenital hypothyroidism: a patient report and review of the literature.
Kurtoğlu S, Caksen H, Erdoğan R, Kisaarslan AF
J Pediatr Endocrinol Metab 1998 Jul-Aug;11(4):569-73. doi: 10.1515/jpem.1998.11.4.569. PMID: 9777579
Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma.
Lawlor F
Pediatrics 1988 Dec;82(6):870-3. PMID: 3186377

Therapy

Harlequin fetus: a case report.
Bonomi A, Gomirato G, Capalbo P, Crosato M
Panminerva Med 1990 Apr-Jun;32(2):96-9. PMID: 2250982
Harlequin baby treated with etretinate.
Rogers M, Scraf C
Pediatr Dermatol 1989 Sep;6(3):216-21. doi: 10.1111/j.1525-1470.1989.tb00821.x. PMID: 2798260
Long-term survival of a harlequin fetus.
Roberts LJ
J Am Acad Dermatol 1989 Aug;21(2 Pt 2):335-9. doi: 10.1016/s0190-9622(89)80029-5. PMID: 2754067
Successful treatment of a harlequin fetus.
Ward PS, Jones RD
Arch Dis Child 1989 Sep;64(9):1309-11. doi: 10.1136/adc.64.9.1309. PMID: 2640554Free PMC Article
Harlequin fetus successfully treated with etretinate.
Lawlor F, Peiris S
Br J Dermatol 1985 May;112(5):585-90. doi: 10.1111/j.1365-2133.1985.tb15268.x. PMID: 4005157

Prognosis

Harlequin fetus.
Malik NA, Ghauri AQ
J Coll Physicians Surg Pak 2004 May;14(5):294-5. PMID: 15225459
Harlequin fetus: a case report.
Moreau S, Salame E, Goullet de Rugy M, Delmas P
Surg Radiol Anat 1999;21(3):215-6. doi: 10.1007/BF01630905. PMID: 10431336
Harlequin ichthyosis: report of one case.
Lai SW, Chen YC, Tsai FJ, Wu MT, Peng CT, Lin CC, Tsai CH
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1998 Nov-Dec;39(6):412-4. PMID: 9926518
Long-term survival of a harlequin fetus.
Roberts LJ
J Am Acad Dermatol 1989 Aug;21(2 Pt 2):335-9. doi: 10.1016/s0190-9622(89)80029-5. PMID: 2754067
Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma.
Lawlor F
Pediatrics 1988 Dec;82(6):870-3. PMID: 3186377

Clinical prediction guides

A New Born with Lamellar ichthyosis(Collodion Baby).
Gul Z, Khan GA, Liaqat F, Muqarrab K
J Coll Physicians Surg Pak 2015 Aug;25(8):621-2. PMID: 26305314
Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach.
Bongain A, Benoit B, Ejnes L, Lambert JC, Gillet JY
Ultrasound Obstet Gynecol 2002 Jul;20(1):82-5. doi: 10.1046/j.1469-0705.2002.00708.x. PMID: 12100425

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