Harlequin-type ichthyosis is a genetic disorder that causes the skin to thicken in almost the entire body at birth. The skin forms a large diamond-shaped plate separated by deep cracks. They affect the shape of the eyelids, nose, mouth, and ears, and restrict the movement of the arms and legs. Limited chest movements can cause breathing difficulties. These plates fall out for weeks. Other complications can include premature birth, infection, problems with body temperature, and dehydration.
Harlequin-type ichthyosis is caused by a gene mutation ABCA12 . It is inherited from a person's parent by means of an autosomal recessive. Diagnosis is often based on appearance at birth and confirmed by genetic testing. Before birth, amniocentesis or ultrasound may support the diagnosis.
There is no cure. Early life constant support care is usually required. Treatment may include moisturizing cream, antibiotics, etretinate, or retinoids. It affects about 1 per 300,000 births. Both sexes are affected equally generally. Long-term problems are common. Deaths in the first month are relatively common. This condition was first documented in 1750.
Video Harlequin-type ichthyosis
Signs and symptoms
Newborns with harlequin-type ichthyosis present with thickly filtered iron-plate hyperkeratosis. Patients have severe cranial and facial deformities. The ears may be very underdeveloped or nonexistent, such as the nose. Eyelids can be ejected (ectropion), which leaves the eyes and areas around them very susceptible to infection. Infants with this condition often experience bleeding during birth. The lips are recalled by dry skin (eclabium). The joints are sometimes lacking in movement, and may be below normal size. Hipoplasia is sometimes found in the fingers. Polydactyly is also found occasionally. In addition, the appearance of fish mouth, mouth breathing, and xerostomia sites affect individuals at very high risk for developing rampant tooth decay.
Patients with this condition are very sensitive to temperature changes due to their cracked hard skin, which prevents normal heat loss. Breathing is also limited by the skin, which blocks the chest wall to expand and draw in sufficient air. This can cause hypoventilation and respiratory failure. Patients are often dehydrated, because the layered skin is unsuitable for holding water.
Maps Harlequin-type ichthyosis
Diagnosis
The diagnosis of harlequin-type ichthyosis depends on physical examination and certain laboratory tests. Physical assessment at birth is essential for early diagnosis of harlequin ichthyosis. Physical examination reveals symptoms of condition characteristics especially abnormalities on the skin surface of newborns. Abnormal findings in physical examination usually result in the use of other diagnostic tests to confirm the diagnosis. Genetic testing is the most specific diagnostic test for harlequin ichthyosis. This test indicates a loss of function of mutations in the ABCA12 gene. This gene is important in the regulation of protein synthesis for the development of the skin layer. Mutations in the genes can cause disruption of transporting lipids in the skin layer and can also cause the crumpled protein version responsible for skin development. Less severe mutations produce collodion membranes and ichthyosiform erythroderma-like congenital presentations. ABCA12 is a binding ATP binding tape (ABC), and is a member of a large family of proteins that hydrolyzes ATP to transport cargo across the membrane. ABCA12 is considered a lipid transporter in keratinocytes necessary for transporting lipids into flat granules during the formation of the lipid barrier. Skin biopsy can be performed to assess the histologic characteristics of cells. Histologic findings usually reveal hyperkeratotic skin cells, which lead to thick, white and hard skin layers.
Treatment and prognosis
Constant care is needed to moisturize and protect the skin. The hard outer layer finally peels off, leaving a vulnerable inner layer of open dermis. Initial complications are caused by infection due to rupture of hyperkeruatic plates and respiratory distress due to physical limitation of chest wall expansion. Management includes supportive care and treatment of hyperkeratosis and skin barrier dysfunction. The humidified incubator is commonly used. Intubation is often required until nares are patents. Nutritional support with tube bait is essential until the eclabium is cured and the baby can start breastfeeding. Ophthalmological consultation is useful for the initial management of ectropion, which was originally spoken and resolved as a shed scales. Liberal petrolatum applications are needed several times a day. In addition, careful debridement of the constrictive ribbon of hyperkeratosis should be performed to avoid digital ischemia. Digital autoamputation or necrosis cases have been reported because of the narrowing of the skin tape. The relaxation incision has been used to prevent these morbid complications.
In the past, the disorder was almost always fatal, either because of dehydration, infection (sepsis), limited breathing due to coating, or other related causes. The most common cause of death is systemic infection and the sufferer rarely survives for more than a few days. However, improved neonatal intensive care and early treatment with oral retinoids, such as Isotretinoin (Isotrex), can improve survival. Early oral retinoid therapy has been shown to soften the scale and encourage desquamation. After two weeks of oral isotretinoin every day, the fissures in the skin can heal, and scales like the plates are almost unbreakable. Increased eclabium and ectropion can also be seen in a matter of weeks. Children who survive in the neonatal period usually evolve into less severe phenotypes, resembling severe congenital congenital erythroderma. The patient continues to suffer from temperature dysregulation and may have hot and cold intolerance. Patients can also have poor hair growth in general, grated alopecia, digit contractures, arthralgia, failure to grow, hypothyroidism, and short stature. Some patients develop rheumatoid-positive factor polyarthritis. Survivors can also develop scales such as fish and retention from waxy, yellowish material in seboroic areas, with ears attached to the scalp.
The oldest known survivor is Nusly "Nelly" Shaheen, who was born in 1984 AD and in relatively good health condition in April 2016. The maximum age of patients with this disease has not been determined with new treatments.
A study published in 2011 in the Archives of Dermatology concluded: " Harlequin ichthyosis should be considered a severe chronic disease that is not always fatal, with improved neonatal care and perhaps early recognition of oral retinoids, the number of survivors increase. "
History
This disease has been known since 1750, and was first described in the diary of Reverend Oliver Hart of Charleston, South Carolina:
"On Thursday, April 5th, 1750, I went to see the object of the saddest of a child, born on the night before the Mary Evans' Chasown. It was a shock to all who saw it, and I hardly know how to describe it, skin was dry and hard and apparently cracked in many places, somewhat resembling fish scales. His mouth was large and round and open. it did not have a nose externally, but two holes where the nose should have eyes looked like a lump of blood to clot, it turns out, about the size of a plum , horrible to look in. It has no external ears, but the hole where the ears should be.The hands and feet look swollen, cramped and feels hard enough The back of the head is very open It makes a strange, very low sound, which I can not explain. He lived about forty-eight hours and lived when I saw him. "
Markers of harlequin-type are derived from the shape of a birth weight scales (resembling an Arlecchino costume).
Famous cases
- A case reported in Bermuda (woman born in 1974) is probably the oldest known survivor.
- Nusrit "Nelly" Shaheen (born 1984) is probably the oldest known survivor in Britain; he lives in Coventry, and is one of nine children in a Pakistani Muslim household. Four of his eight siblings also had conditions but died as children.
- Hunter Steinitz (born October 17, 1994) is one of only twelve Americans living with the disease and profiled on the "Extraordinary Man" Geographic Specific: the National Skin.
- Ryan Gonzalez (born 1986) is the oldest person in the United States living with the disease. She is featured in an episode of Medical Incredible .
- Stephanie Turner (1993 - 2017) is the second oldest person in the United States living with the disease, and the first to give birth. Turner two children have no illness. He died on March 3, 2017, at the age of 23 years. Mason van Dyke, despite being given life expectancy of one to five days, is 21 months and active, as of December 31, 2014. The doctor told his mother Lisa van Dyke that she is the first case of ichthyosis harlequin in South Africa, and that she has one-in-four chance to have another child with the disease.
- Mui Thomas (born 1992 in Hong Kong) qualifies as the first rugby referee with ichthyosis harlequin.
- The baby girl born in Nagpur, India in June 2016 died after two days. He was reported as the first case in India.
- What is believed to be the second case in India is reported in January 2017 in Patna, the capital of Bihar. The deputy superintendent of the Paliganj sub-division hospital Dr. Shiv Lal Chaudhary, who is also in charge of Paliganj PHC, said the baby was born through a normal delivery. The baby was born four weeks before the time. Other couples, aged 18 months, are not reported to have the disease.
References
External links
- Information from the U.S. National Institute of Health
Source of the article : Wikipedia
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