The result of a Harlequin x Harlequin breeding is 7 lethal: Great Dane graphics provided courtesy of Cartoonize My Pet.
The ears may be very poorly developed or absent entirely, as may the nose. The eyelids may be everted ectropionwhich leaves the eyes and the area around them very susceptible to infection. The lips are pulled back by the dry skin eclabium. Joints are sometimes lacking in movement, and may be below the normal size.
Hypoplasia is sometimes found in the fingers. Polydactyly has also been found on occasion. In addition, the fish mouth appearance, mouth breathing, and xerostomia place affected individuals at extremely high risk for developing rampant dental decay.
Respiration is also restricted by the skin, which impedes the chest wall from expanding and drawing in enough air. This can lead to hypoventilation and respiratory failure. Patients are often dehydratedas their plated skin is not well suited to retaining water. Diagnosis[ edit ] The diagnosis of harlequin-type ichthyosis relies on both physical examination Harlequin case study certain 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.
This gene is important in the regulation of protein synthesis for the development of the skin layer. Mutations in the gene may cause impaired transport of 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. ABCA12 is thought to be a lipid transporter in keratinocytes necessary for lipid transport into lamellar granules during the formation of the lipid barrier.
Histological findings usually reveal hyperkeratotic skin cells, which leads to a thick, white and hard skin layer.
Treatment and prognosis[ edit ] Constant care is required to moisturize and protect the skin. The hard outer layer eventually peels off, leaving the vulnerable inner layers of the dermis exposed. Early complications result from infection due to fissuring of the hyperkeratoic plates and respiratory distress due to physical restriction of chest wall expansion.
Management includes supportive care and treatment of hyperkeratosis and skin barrier dysfunction. A humidified incubator is generally used. Intubation is often required until nares are patent. Nutritional support with tube feeds is essential until eclabium resolves and infants can begin nursing.
Ophthalmology consultation is useful for the early management of ectropionwhich is initially pronounced and resolves as scales are shed. Liberal application of petrolatum is needed multiple times a day. In addition, careful debridement of constrictive bands of hyperkeratosis should be performed to avoid digital ischemia.
Cases of digital autoamputation or necrosis have been reported due to cutaneous constriction bands. Relaxation incisions have been used to prevent this morbid complication. The most common cause of death was systemic infection and sufferers rarely survived for more than a few days.
However, improved neonatal intensive care and early treatment with oral retinoidssuch as the drug Isotretinoin Isotrexmay improve survival. 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 congenital ichthyosiform erythroderma. Patients continue to suffer from temperature disregulation and may have heat and cold intolerance. Patients can also have generalized poor hair growth, scarring alopeciacontractures of digits, arthralgiasfailure to thrivehypothyroidismand short stature.
Some patients develop a rheumatoid factor-positive polyarthritis. The oldest known survivor is Nusrit "Nelly" Shaheen, who was born in and is in relatively good health as of March A study published in in the Archives of Dermatology concluded: With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing.Harlequin Enterprises: The MIRA Decisions Case The primary issue facing Harlequin is the "steady loss of share in a growing women's fiction market", due to the growing popularity of single-title novels.
HARLEQUIN ICHTHYOSIS A Case Study Dr. ElDr. El--Marie Farrell Marie Farrell UPDATE Congress PATIENT 21 year21 year--old G2P1 patient with old G2P1 patient with uncomplicated first pregnancy uncomplicated first pregnancy ––NVD at NVD at HARLEQUIN ICHTHYOSIS Author.
The dogs referred to as Merlequin are actually hhMM, meaning they don’t carry the harlequin allele at all and are in fact double merles.. The name is a misnomer and the dogs themselves are subject the the same genetic challenges as double merles in other breeds.
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