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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

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
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
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

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
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
Singalavanija S, Sangtawesin V, Horpoapan S, Ratrisawadi V
J Med Assoc Thai 1998 May;81(5):365-70. PMID: 9623037
Roberts LJ
J Am Acad Dermatol 1989 Aug;21(2 Pt 2):335-9. doi: 10.1016/s0190-9622(89)80029-5. PMID: 2754067
Lawlor F
Pediatrics 1988 Dec;82(6):870-3. PMID: 3186377

Diagnosis

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
Bari AU, Najmi SUA
J Coll Physicians Surg Pak 2020 Jun;30(6):652-654. doi: 10.29271/jcpsp.2020.06.652. PMID: 32703355
Basgul AY, Kavak ZN, Guducu N, Durukan B, Isci H
Clin Exp Obstet Gynecol 2011;38(3):283-5. PMID: 21995167
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
Charles A, Moulinasse R, Versailles L
Prenat Diagn 1989 Oct;9(10):709-13. doi: 10.1002/pd.1970091006. PMID: 2687838

Therapy

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
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
Roberts LJ
J Am Acad Dermatol 1989 Aug;21(2 Pt 2):335-9. doi: 10.1016/s0190-9622(89)80029-5. PMID: 2754067
Ward PS, Jones RD
Arch Dis Child 1989 Sep;64(9):1309-11. doi: 10.1136/adc.64.9.1309. PMID: 2640554Free PMC Article
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

Malik NA, Ghauri AQ
J Coll Physicians Surg Pak 2004 May;14(5):294-5. PMID: 15225459
Moreau S, Salame E, Goullet de Rugy M, Delmas P
Surg Radiol Anat 1999;21(3):215-6. doi: 10.1007/BF01630905. PMID: 10431336
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
Singalavanija S, Sangtawesin V, Horpoapan S, Ratrisawadi V
J Med Assoc Thai 1998 May;81(5):365-70. PMID: 9623037
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

Gul Z, Khan GA, Liaqat F, Muqarrab K
J Coll Physicians Surg Pak 2015 Aug;25(8):621-2. PMID: 26305314
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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