Harlequin-type ichthyosis
| Subclass of | autosomal recessive congenital ichthyosis  |
|---|---|
| Dem name after | Harlequin |
| Health specialty | medical genetics |
| Genetic association | ABCA12 |
Harlequin-type ichthyosis be a genetic disorder wey dey result in thickened skin over nearly de entire body at birth.[1] De skin dey form large, diamond/trapezoid/rectangle-shaped plates wey be separated by deep cracks.[1] Dese affect de shape of de eyelids, nose, mouth, den ears den limit movement of de arms den legs.[1] Restricted chest movement fi lead to breathing difficulties.[1] Dese plates fall off over several weeks.[2] Oda complications fi include premature birth, infection, problems plus body temperature, den dehydration.[1][3] De condition be de most severe form of ichthyosis (except for syndromes wey include ichthyosis, for example, Neu–Laxova syndrome), a group of genetic disorders wey be characterised by scaly skin.[4]
Harlequin-type ichthyosis be caused by mutations insyd de ABCA12 gene.[1] Dis gene codes for a protein necessary for transporting lipids out of cells insyd de outermost layer of skin.[1] De disorder be autosomal recessive den inherited from parents wey be carriers.[1] Diagnosis often be based on appearance at birth den confirmed by genetic testing.[5] Before birth, amniocentesis anaa ultrasound fi support de diagnosis.[5]
Der be no cure for de condition.[6] Early insyd life, constant supportive care be typically required.[2] Treatments fi include moisturizing cream, antibiotics, etretinate anaa retinoids.[2][5] Around half of those wey be affected die within de first few months;[7] however, retinoid treatment fi increase chances of survival.[8][6] Kiddies wey survive de first year of life often get long-term problems such as red skin, joint contractures den delayed growth.[5] De condition dey affect around 1 insyd 300,000 births.[7] Na e be first documented insyd a diary entry by Reverend Oliver Hart insyd America insyd 1750.[9]
Gallery
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Female case, 1888
Male case, 1902
Kyber's case, 1902
An infant plus harlequin ichthyosis
An infant plus harlequin ichthyosis
Harlequin ichthyosis insyd a female infant
Harlequin ichthyosis insyd a male infant
An infant plus harlequin ichthyosis, dem cover insyd sterile gauze
Harlequin ichthyosis insyd a three-year-old girl, de keratin scales almost completely dey fall off
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References
[edit | edit source]- 1 2 3 4 5 6 7 8 "Harlequin ichthyosis". Genetics Home Reference (in English). November 2008. Archived from the original on July 28, 2017. Retrieved July 18, 2017.
- 1 2 3 "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.
- ↑ 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.
- ↑ 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.
- 1 2 3 4 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.
- 1 2 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.
- 1 2 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.
- ↑ Layton, Lt. Jason (May 2005). "A Review of Harlequin Ichthyosis". Neonatal Network (in English). 24 (3): 17–23. doi:10.1891/0730-0832.24.3.17. ISSN 0730-0832. PMID 15960008. S2CID 38934644.
- ↑ Schachner, Lawrence A.; Hansen, Ronald C. (2011). Pediatric Dermatology E-Book (in English). Elsevier Health Sciences. p. 598. ISBN 978-0723436652. Archived from the original on November 5, 2017.
External links
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- Information from the U.S. National Institutes of Health