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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

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.
Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA
J Eur Acad Dermatol Venereol 2022 Jul;36(7):973-986. Epub 2022 Mar 15 doi: 10.1111/jdv.18043. PMID: 35238435Free PMC Article
Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.
Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, Glick SA
Pediatrics 2017 Jan;139(1) Epub 2016 Dec 20 doi: 10.1542/peds.2016-1003. PMID: 27999114
Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.
Shibata A, Akiyama M
Pediatr Int 2015 Aug;57(4):516-22. Epub 2015 Jul 14 doi: 10.1111/ped.12638. PMID: 25857373

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
Harlequin baby: a case report.
Singalavanija S, Sangtawesin V, Horpoapan S, Ratrisawadi V
J Med Assoc Thai 1998 May;81(5):365-70. PMID: 9623037
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

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
Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography.
Basgul AY, Kavak ZN, Guducu N, Durukan B, Isci H
Clin Exp Obstet Gynecol 2011;38(3):283-5. PMID: 21995167
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
Harlequin fetus and micromelia.
Charles A, Moulinasse R, Versailles L
Prenat Diagn 1989 Oct;9(10):709-13. doi: 10.1002/pd.1970091006. PMID: 2687838

Therapy

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
Management and follow-up of harlequin siblings.
Prasad RS, Pejaver RK, Hassan A, al Dusari S, Wooldridge MA
Br J Dermatol 1994 May;130(5):650-3. doi: 10.1111/j.1365-2133.1994.tb13114.x. PMID: 8204475
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
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
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
Harlequin baby: a case report.
Singalavanija S, Sangtawesin V, Horpoapan S, Ratrisawadi V
J Med Assoc Thai 1998 May;81(5):365-70. PMID: 9623037
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

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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