Harlequin-type ichthyosis

Not to be confused with Harlequin syndrome.

Harlequin-type ichthyosis
Other namesHarlequin ichthyosis,[1] ichthyosis fetalis, keratosis diffusa fetalis, harlequin fetus,[2]: 562  ichthyosis congenita gravior[1]
Harlequin-type ichthyosis, 1886
SpecialtyDermatology
SymptomsVery thick skin which cracks, abnormal facial features[3][4]
ComplicationsBreathing problems, infection, problems with body temperature, dehydration[4]
Usual onsetPresent from birth[3]
CausesGenetic (autosomal recessive)[3]
Diagnostic methodBased on appearance and genetic testing[5]
Differential diagnosisIchthyosis congenita, Lamellar ichthyosis[3]
TreatmentSupportive care, moisturizing cream[3]
MedicationAntibiotics, etretinate, retinoids[3]
PrognosisDeath in the first month is relatively common[6]
Frequency1 in 300,000[7]

Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth.[4] The skin forms large, diamond/trapezoid/rectangle-shaped plates that are separated by deep cracks.[4] These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs.[4] Restricted chest movement can lead to breathing difficulties.[4] These plates fall off over several weeks.[3] Other complications can include premature birth, infection, problems with body temperature, and dehydration.[4][5] The condition is the most severe form of ichthyosis (except for syndromes that include ichthyosis, for example, Neu–Laxova syndrome), a group of genetic disorders characterised by scaly skin.[8]

Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene.[4] This gene codes for a protein necessary for transporting lipids out of cells in the outermost layer of skin.[4] The disorder is autosomal recessive and inherited from parents who are carriers.[4] Diagnosis is often based on appearance at birth and confirmed by genetic testing.[5] Before birth, amniocentesis or ultrasound may support the diagnosis.[5]

There is no cure for the condition.[8] Early in life, constant supportive care is typically required.[3] Treatments may include moisturizing cream, antibiotics, etretinate or retinoids.[3][5] Around half of those affected die within the first few months;[7] however, retinoid treatment can increase chances of survival.[9][8] Children who survive the first year of life often have long-term problems such as red skin, joint contractures and delayed growth.[5] The condition affects around 1 in 300,000 births.[7] It was first documented in a diary entry by Reverend Oliver Hart in America in 1750.[6]

  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ a b c d e f g h i "Ichthyosis, Harlequin Type – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2006. Archived from the original on April 26, 2017. Retrieved April 26, 2017.
  4. ^ a b c d e f g h i j "Harlequin ichthyosis". Genetics Home Reference. November 2008. Archived from the original on July 28, 2017. Retrieved July 18, 2017.
  5. ^ a b c d e f Glick, JB; Craiglow, BG; Choate, KA; Kato, H; Fleming, RE; Siegfried, E; Glick, SA (January 2017). "Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care". Pediatrics. 139 (1): e20161003. doi:10.1542/peds.2016-1003. PMID 27999114.
  6. ^ a b Schachner, Lawrence A.; Hansen, Ronald C. (2011). Pediatric Dermatology E-Book. Elsevier Health Sciences. p. 598. ISBN 978-0723436652. Archived from the original on November 5, 2017.
  7. ^ a b c Ahmed, H; O'Toole, E (2014). "Recent advances in the genetics and management of Harlequin Ichthyosis". Pediatric Dermatology. 31 (5): 539–46. doi:10.1111/pde.12383. PMID 24920541. S2CID 34529376.
  8. ^ a b c Shibata, A; Akiyama, M (August 2015). "Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan". Pediatrics International. 57 (4): 516–22. doi:10.1111/ped.12638. PMID 25857373. S2CID 21632558.
  9. ^ Layton, Lt. Jason (May 2005). "A Review of Harlequin Ichthyosis". Neonatal Network. 24 (3): 17–23. doi:10.1891/0730-0832.24.3.17. ISSN 0730-0832. PMID 15960008. S2CID 38934644.
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