Harlequin-type ichthyosis

Source: Wikipedia, the free encyclopedia.
Not to be confused with Harlequin syndrome.

Harlequin-type ichthyosis
Other namesHarlequin ichthyosis,
retinoids[3]
PrognosisDeath in the first month is relatively common[6]
Frequency1 in 300,000[7]

Harlequin-type ichthyosis is a

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

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.

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]

History

The disease has been known since 1750, and was first described in the diary of Rev. Oliver Hart from Charleston, South Carolina:

"On Thursday, April the 5th, 1750, I went to see a most deplorable object of a child, born the night before of one Mary Evans in 'Chas'town. It was surprising to all who beheld it, and I scarcely know how to describe it. The skin was dry and hard and seemed to be cracked in many places, somewhat resembling the scales of a fish. The mouth was large and round and open. It had no external nose, but two holes where the nose should have been. The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it."[10]

The harlequin-type designation comes from the diamond shape of the scales at birth (resembling the costume of Arlecchino).

Signs and symptoms

A child with Harlequin-type ichthyosis.Visible plates on the skin, as well as a change in the appearance of the ears and fingers,which are symptoms of Harlequin-type ichthyosis.[11]

Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis.[12] Sufferers feature severe cranial and facial deformities. The ears may be very poorly developed or absent entirely, as may the nose. The eyelids may be everted (ectropion), which leaves the eyes and the area around them very susceptible to infection.[13] Babies with this condition often bleed during birth. The lips are pulled back by the dry skin (eclabium).[14]

Joints are sometimes lacking in movement, and may be below the normal size. Hypoplasia is sometimes found in the fingers. Polydactyly has been found on occasion. The fish mouth appearance, mouth breathing, and xerostomia place affected individuals at extremely high risk for developing rampant dental decay.[15]

Patients with this condition are extremely sensitive to changes in temperature due to their hard,

dehydrated, as their plated skin is not well suited to retaining water.[14]

Cause

Two genetic mechanisms that can result in harlequin-type ichthyosis

Harlequin-type ichthyosis is caused by a loss-of-function mutation in the

lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development. Less severe mutations result in a collodion membrane and congenital ichthyosiform erythroderma-like presentation.[16][17]

ABCA12 is an

lamellar granules during the formation of the lipid barrier in the skin.[18]

Diagnosis

The diagnosis of harlequin-type ichthyosis relies on both physical examination and laboratory tests. Physical assessment at birth is vital for the initial diagnosis of harlequin ichthyosis. Physical examination reveals characteristic symptoms of the condition especially the abnormalities in the skin surface of newborns. Abnormal findings in physical assessments usually result in employing other diagnostic tests to ascertain the diagnosis.

Genetic testing is the most specific diagnostic test for harlequin ichthyosis. This test reveals a loss of function mutation on the ABCA12 gene. Biopsy of skin may be done to assess the histologic characteristics of the cells. Histological findings usually reveal hyperkeratotic skin cells, which leads to a thick, white and hard skin layer.

Treatment

Constant care is required to moisturize and protect the skin. The hard outer layer eventually peels off, leaving the vulnerable inner layers of the

respiratory distress due to physical restriction of chest wall expansion.[19]

Management includes supportive care and treatment of hyperkeratosis and skin barrier dysfunction. A humidified incubator is generally used.

nares are present. Nutritional support with tube feeds is essential until eclabium resolves and infants can begin nursing. Ophthalmology consultation is useful for the early management of ectropion, which is initially pronounced and resolves as scales are shed. Liberal application of petroleum jelly is needed multiple times a day. In addition, careful debridement of constrictive bands of hyperkeratosis should be performed to avoid digital ischemia.[19]

Cases of digital autoamputation or necrosis have been reported due to cutaneous constriction bands. Relaxation incisions have been used to prevent this morbid complication.[19]

Prognosis

In the past, the disorder was nearly always fatal, whether due to

neonatal intensive care and early treatment with oral retinoids, such as the drug isotretinoin, may improve survival.[14][9] Early oral retinoid therapy has been shown to soften scales and encourage desquamation.[20]
After as little as two weeks of daily oral isotretinoin, fissures in the skin can heal, and plate-like scales can nearly resolve. Improvement in the eclabium and ectropion can also be seen in a matter of weeks.

Children who survive the neonatal period usually evolve to a less severe phenotype, resembling a severe

seborrheic areas, with ear adhered to the scalp.[citation needed
]

The oldest known survivor is Nusrit "Nelly" Shaheen, who was born in 1984 and is in relatively good health as of June 2021.[22][23] Most infants do not live past a week. Those who do survive can live from anywhere around 10 months to 25 years thanks to advanced medicine.[24]

A study published in 2011 in the

Archives of Dermatology concluded: "Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing."[25]

Epidemiology

The condition occurs in roughly 1 in 300,000 people. As an autosomal recessive condition, there is a higher likelihood of consanguinity.[7]

Notable cases

Gallery

  • Female case, 1888
    Female case, 1888
  • Male case, 1902
    Male case, 1902
  • Kyber's case, 1902
    Kyber's case, 1902
  • An infant with Harlequin ichthyosis.
    An infant with Harlequin ichthyosis.
  • An infant with Harlequin ichthyosis.
    An infant with Harlequin ichthyosis.
  • Harlequin ichthyosis in a female infant
    Harlequin ichthyosis in a female infant
  • Harlequin ichthyosis in a male infant
    Harlequin ichthyosis in a male infant
  • An infant with Harlequin ichthyosis covered in sterile gauze.
    An infant with Harlequin ichthyosis covered in sterile gauze.
  • Harlequin ichthyosis in a 3-year-old girl, the keratin scales having almost completely fallen off
    Harlequin ichthyosis in a 3-year-old girl, the keratin scales having almost completely fallen off

References

  1. ^
    ISBN 978-1-4160-2999-1.[page needed
    ]
  2. 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. ^
    PMID 27999114
    .
  6. ^
    ISBN 978-0723436652. Archived
    from the original on November 5, 2017.
  7. ^
    S2CID 34529376
    .
  8. ^
    S2CID 21632558
    .
  9. ^
    S2CID 38934644
    .
  10. doi:10.1001/archpedi.1932.01950020174019
    .
  11. PMID 28913151
    .
  12. PMID 27206363
    .
  13. PMID 26740202
    .
  14. ^
    PMID 21339420
    .
  15. PMID 24553270
    .
  16. S2CID 30083095
    .
  17. PMID 15756637
    .
  18. PMID 20869849
    .
  19. ^
    S2CID 34511814
    .
  20. PMID 24612573
    .
  21. S2CID 19314083
    .
  22. ^ a b Lillington, Catherine (April 14, 2016). "Inspirational Nusrit Shaheen is still smiling despite battling condition which makes her skin grow ten times faster than normal". Coventry Telegraph. Archived from the original on February 2, 2017. Retrieved January 28, 2017.
  23. ^ THE SNAKE SKIN WOMAN: EXTRAORDINARY PEOPLE, Channel 5, March 22, 2017.
  24. PMID 28913151
    .
  25. PMID 21339420
    .
  26. ^ "Special Olympics Trinidad and Tobago mourns top ex-athlete - Trinidad and Tobago Newsday". Newsday. January 23, 2023. Retrieved May 5, 2023.
  27. ^ "First Skin Foundation, "Andrea A.* - Moreno Valley, CA - 2020". First Skin Foundation. Retrieved May 5, 2023.
  28. ^ "Harlequin Ichthyosis". Archived from the original on October 14, 2008. Retrieved November 10, 2008.
  29. ^ "Man Survives Rare Skin-Shedding Disease - Staying Healthy News Story - KGTV San Diego". 10news. November 16, 2004. Archived from the original on February 5, 2012. Retrieved May 5, 2023.
  30. ^ Madden, Ursula (August 26, 2013). "Mid-South woman with rare genetic condition defies odds, deliverers healthy baby". Fox19 Cincinnati. Archived from the original on August 29, 2013. Retrieved August 27, 2013.
  31. ^ "Mid-South woman born with rare skin condition dies unexpectedly". WMCActionNews5. March 7, 2017. Archived from the original on March 12, 2017. Retrieved April 29, 2017.
  32. ^ "[UPDATED] I'm the First Woman with Harlequin Ichthyosis to Give Birth". January 5, 2017. Archived from the original on April 27, 2017. Retrieved April 27, 2017.
  33. ^ Wilke, Marelize (July 6, 2018). "This strange disorder gives children very hard, thick skin". News24. Retrieved August 8, 2020.
  34. ^ "21-month-old boy defies the odds, thrives living with Harlequin Ichthyosis". News24. December 31, 2014. Archived from the original on January 1, 2015. Retrieved January 1, 2015.
  35. ^ Hamill, Sean D. (June 27, 2010). "City girl aims to educate about her skin disease". Pittsburgh Post-Gazette. Archived from the original on June 30, 2010. Retrieved June 27, 2010.
  36. ^ "'Girl behind the face' tackles cyber bullies". scmp.com. June 13, 2016. Archived from the original on June 14, 2016.
  37. ^ "Nagpur: Harlequin baby dies two days after birth". hindustantimes.com. June 13, 2016. Archived from the original on June 14, 2016. Retrieved June 14, 2016.
  38. ^ "India's first 'Harlequin Baby' born without any external skin dies two days after birth". India TV. June 14, 2016. Archived from the original on June 17, 2016. Retrieved June 14, 2016.
  39. ^ Shahab, Aiman (September 7, 2020). "Juvenile Idiopathic Arthritis In Infant With Harlequin Ichthyosis". MEDizzy Journal. Archived from the original on September 24, 2020. Retrieved September 7, 2020.
  40. ^ "Woman whose skin grew too fast for her body dies at 32". May 25, 2022.
  41. ^ Asia One, "Woman born with rare skin disease: My parents love me, that's enough," April 28, 2017
  42. ^ "Harlequin Ichthyosis: Rare Condition Causes Five-Year-Old's Skin To At Grow Ten Times The Normal Rate". huffingtonpost.co.uk. June 6, 2016. Archived from the original on July 13, 2022.

External links

Retrieved from "https://en.wikipedia.org/w/index.php?title=Harlequin-type_ichthyosis&oldid=1215946333"