What is Harlequin-type Ichthyosis ?
It is a very rare skin problem that arises as a result of mutations in the genes responsible for skin cell development. The condition, which is very evident at birth, is characterized by thick and diamond-shaped scaly skin that covers the whole body of the infant. Because the skin is cracked, those afflicted by the disorder is susceptible to bacteria and infection. The limbs, mouth, ears and eyes are likewise abnormally contracted.
Babies born with Harlequin-type Ichthyosis are cared for under the hospital’s intensive care unit. This is because contaminants easily get through the cracked skin and result in serious skin infection. Fatal mortality is generally due to bacterial invasion and this is the reason why prompt medical intervention is highly needed.
Cause of Harlequin-type Ichthyosis
This extremely rare skin disease is a result of mutations in the genes that play very important roles in skin cell development. Specifically, the mutation occurred in the ABCA12 gene which contains instructions to produce the protein needed in transporting fats to the epidermis. A mutated gene does not make the much-needed protein. In other cases, mutations in the ABCA12 gene result in the production of abnormal protein which is not capable of properly transporting the lipids. A dysfunctional protein disrupts the proper development of the skin and leads to the profound, thick scales of Harlequin Ichthyosis.
A child can only have it if both of his/her parents are carriers of the defective gene. If only one parent has the defective gene, the child will not exhibit any signs of Harlequin Ichthyosis. It is for this reason that Harlequin Ichthyosis rarely occurs because both parents rarely have a defective ABCA12 gene.
Occurrence of Harlequin-type Ichthyosis
This type of skin problem very rarely occurs and so the exact figure of incidence rate cannot be known. However, there had been 100 cases of Harlequin Ichthyosis reported across the globe. It was revealed that the disease has no racial or gender predisposition. Those who have a family history of Harlequin-type Ichthyosis and other severe skin diseases are at risk of having a child with Harlequin Ichthyosis.
The condition is indeed rare, but it has long been known way back 1750. It was Rev. Oliver Hart, a cleric in Charleston, South Carolina who described the condition in his diary. The disease is called by several names, such as ichthyosis congenita, keratosis diffusa fetalis and ichthyosis fetalis. Babies born with this disorder are called harlequin babies, harlequin fetuses or simply harlequins. The name was derived from 17th century entertainers whose costumes have diamond patterns while their faces are covered with face paint.
Harlequin-type Ichthyosis symptoms
This rare disorder is already evident at birth. It can even be detected prior to birth through amniocentesis, fetal skin biopsy and 3D ultrasound. Harlequin babies will have the following features:
- Severely thick scaly skin
The most prominent manifestation of the disorder is the severely thick diamond-shaped scaly skin covering the entire body of the baby. This occurs as a result of severe hyperkeratosis. The thick scaly skin of harlequin babies disrupts normal heat loss, resulting in hyperthermia. It also impedes normal respiration which could lead to hypoventilation and even respiratory failures. Because the skin cannot store water, the affected babies are usually dehydrated.
- Averted eyelids
Babies born with this disorder have severely averted eyelids which make the eyes and surrounding skin vulnerable to trauma.
- Underdeveloped ears and nose
The ears and nose could be present but poorly developed. In some cases, they are completely missing.
- Pullout lips
Affected babies have fixed lips and open mouths because the lips are pulled out by the surrounding dry skin. This results in feeding problems.
- Deformed limbs
Harlequin babies generally have deformed limbs due to enclosure in severely thick scaly skin, making it difficult to bend their feet, arms and fingers properly. Fingers, fingernails and toes are poorly developed too, making it difficult to grab or touch things. Affected babies often have more fingers and toes than the normal digits.
Babies often die because they are born prematurely or due to complications caused by bacterial infection and respiratory failure. It is for this reason that babies born with this disorder are cared for under the hospital’s intensive care facility.
Diagnosis of Harlequin-type Ichthyosis
The condition might be obvious at birth, but the doctor will still conduct several tests to confirm the condition. Diagnosis often involves:
- Physical examination
- Skin biopsy
- Genetic testing
Harlequin ichthyosis could be detected before birth and it would be beneficial to have it checked early so that the expecting parents could prepare themselves for the possibilities and give the supportive care needed for the child. Fetal death often occurs soon, though medical advancement had improved the prognosis of Harlequin ichthyosis. Quite a few have lived up to adulthood.
Harlequin-type Ichthyosis Treatment
The treatment is aimed towards preventing bacterial invasion and secondary complications. Doctors have been using retinoids in treating the disorder. Patients are required to rub their skin with oils the entire day to keep it hydrated.
Life expectancy for Harlequin-type Ichthyosis
People infected with this extremely rare form of disease hardly live for more than a few days and the main cause of death is often, systemic infection.
Harlequin-type Ichthyosis survivors
The oldest known survivor is Nusrit Nelly Shaheen (born in 1984) is doing well and is in good health. She is based in UK and is one of the nine children, four of which died at a young age due to Harlequin Ichthyosis.
Modern treatment methodologies have helped but the life span is yet to be determined. Harlequin-type Ichthyosis actually came into existence after 1750 and was first referenced in the book of a cleric, the Rev. Oliver Hart, from Charleston, South Carolina.
Hunter Steinitz one of the only 12 Americans who have Harlequin-type Ichthyosis was even documented in the National Geography. Ryan Gonzalez, who was born in 1986, is the oldest person in USA with Harlequin-type Ichthyosis, and was seen in an episode of ‘Medical Incredible’.
Harlequin Ichthyosis Pictures
Here are pictures of Harlequin Ichthyosis babies and the survior Nelly Shaheen.
This is a picture of Nusrit Nelly Shaheen, the oldest living survivor of Harlequin-type Ichthyosis.