CURRENT RESEARCH/INTERESTING FACTS
Current Research:
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The treatments and the understanding of Harlequin ichthyosis have greatly improved since the first case that was diagnosed in 1750. In 2005, researchers were able to trace the cause of Harlequin ichthyosis to a mutation in the ABCA12 gene. Advancements in intensive neonatal care have positively impacted both short term and long term effects on the disorder.
However, researchers such as Dr. Paller are looking for a more safe and effective treatment to deal with the symptoms of Harlequin ichthyosis by trying to understand the disorder on a molecular level. For example, these researchers have analyzed the linkages between TH17 and IL-23 pathways, which are involved in inflammation and epidermal pathologies in the disorder. Their findings suggest that the immune profile of Harlequin ichthyosis is similar to psoriasis, which already has medications to treat it. This means that psoriasis treatments can be used for patients with Harlequin ichthyosis.
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Click on the images below to view a researcher who is currently working towards a more effective treatment option for the disorder, as well as a possible treatment option that was suggested by the researcher for treating Harlequin ichthyosis.
Dr. Paller is one of the researchers who are analyzing Harlequin ichthyosis on a molecular level and suggest that the immune profile of the disease is similar to psoriasis.
These researchers have found that psoriasis treatments, such as Psorolin creams, can help improve the symptoms of people with Harlequin ichthyosis.
Dr. Paller is one of the researchers who are analyzing Harlequin ichthyosis on a molecular level and suggest that the immune profile of the disease is similar to psoriasis.
Interesting Facts:
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• The term "harlequin," meaning "clown" in Greek, represents the skin around the mouth of a newborn with the disorder being so thick that it pulls the lips into a "clown smile." On the other hand, the term "ichthyosis" means "fish" in Greek that associate the skin of a newborn with the disorder resembling fish scales.
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• Harlequin ichthyosis is the rarest and the most severe form of ichthyosis (a group of skin conditions that causes the epidermis to be dry and rough).
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• In the past, babies diagnosed with Harlequin ichthyosis rarely survived the first few days of life. However, with recent advances in neonatal and medical care, many people with Harlequin ichthyosis are now young adults today.
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• The oldest person currently living with Harlequin ichthyosis is Nusrit (Nelly) Shaheen, who is currently 36 years old (click on the images below for reference).
Nusrit (Nelly) Shaheen, who is 36 years old, is the oldest person currently living with Harlequin ichthyosis.
Another photo of Nusrit (Nelly) Shaheen, described in the last photo.
Nusrit (Nelly) Shaheen, who is 36 years old, is the oldest person currently living with Harlequin ichthyosis.