Harlequin is a type of ichthyosis, a rare genetic skin disorder that results in thickened skin over the entire body. It affects the shape of the eyelids, nose, mouth, and ears and limits the movement of the arms and legs.
Harlequin ichthyosis
Harlequin ichthyosis: Rare Genetic Disorder
Harlequin is a type of ichthyosis, a rare genetic skin disorder that results in thickened skin over the entire body. The patient's skin can be seen as large diamond/trapezoid/rectangle-shaped plates separated by deep cracks all over the body.
It affects the shape of the eyelids, nose, mouth, and ears and limits the movement of the arms and legs. Harlequin ichthyosis can affect a newborn baby, older children, and adults.
An article named "A Parent's Guide to Harlequin Ichthyosis" published on the healthline.com website says "There's no cure for Harlequin ichthyosis, so management becomes a crucial part of the equation after initial treatment. And it's all about the skin. The skin protects the body from bacteria, viruses, and other harmful elements in the environment. It also helps to regulate body temperature and fluid loss."
With the help of advanced medical care and neonatal care, Harlequin ichthyosis can be diagnosed at birth. It can also be confirmed through genetic testing. Harlequin-type ichthyosis is caused by a loss-of-function mutation in the ABCA12 gene. This gene is important in the regulation of protein synthesis for the development of the skin layer.
According to Wikipedia, "Ryan Gonzalez (born in 1986) is the oldest person in the United States living with the disease."
The Skin Diseases & Skin Care website says "As it is an autosomal recessive genetic disorder which is inherited from parents to new born babies due to the mutation ABCA12 gene there is only cure but no prevention to this disease. There are many tests to diagnose and treatment to cure the disease than preventing the disease."
