U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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 advances in the genetics and management of harlequin ichthyosis.
Ahmed H, O'Toole EA
Pediatr Dermatol 2014 Sep-Oct;31(5):539-46. Epub 2014 Jun 12 doi: 10.1111/pde.12383. PMID: 24920541

Recent clinical studies

Etiology

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
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
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

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
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
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

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • MeSH
      Related Medical Subject Headings
    • NCBI Bookshelf
      Related information in NCBI Bookshelf
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...