SNP Shot: Genomic Insights

Harlequin ichthyosis is a serious inherited skin condition. Babies born with it are often premature and have extremely hard, thickened skin covering most of their bodies. This skin develops into large, diamond-shaped plates separated by deep cracks. These skin issues can distort the eyelids, nose, mouth, and ears, and also restrict movement in the arms and legs. Breathing can be difficult for these babies due to restricted chest movement, sometimes leading to respiratory failure. They also struggle with feeding.

Healthy skin acts as a barrier, protecting the body from the outside world. In harlequin ichthyosis, this barrier is compromised, making it hard for babies to retain fluids, control their body temperature, and fight off infections. Dehydration and life-threatening infections are common in the first few weeks of life.

After the initial newborn phase, the hardened skin plates are shed, and the skin becomes red and develops widespread scales.

Historically, survival beyond the newborn period was uncommon. However, advancements in medical care and intensive treatment have significantly improved the chances of survival into childhood and early adulthood for babies with this condition.

Inheritance:

Harlequin ichthyosis follows an autosomal recessive inheritance pattern. This means that a person must inherit a mutated copy of the responsible gene from both parents to develop the condition. Parents who each carry only one copy of the mutated gene are usually unaffected and show no symptoms.