The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it." The harlequin-type designation comes from the diamond shape of the scales at birth (resembling the costume of Arlecchino). Gallery
Notable cases
Nusrit "Nelly" Shaheen (born in 1984) is possibly the oldest known survivor; she resides in Coventry, England, and was one of nine children in a Pakistani Muslim household. Four of her eight siblings also had the condition but died as young children. Ryan Gonzalez (born in 1986) is the oldest person in the United States living with the disease. He was featured in an episode of Medical Incredible. Stephanie Turner (1993 – 2017) was the second oldest person in the United States living with the disease, and the first ever to give birth. Turners two children do not have the disease. She died on March 3, 2017, at age 23. Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, was five years old as of July 2018.
Signs and symptoms
Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis. Sufferers feature severe cranial and facial deformities. The ears may be very poorly developed or absent entirely, as may the nose. The eyelids may be everted (ectropion), which leaves the eyes and the area around them very susceptible to infection. Babies with this condition often bleed during birth. 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.Patients with this condition are extremely sensitive to changes in temperature due to their hard, cracked skin, which prevents normal heat loss. The skin also restricts respiration, which impedes the chest wall from expanding and drawing in enough air. This can lead to hypoventilation and respiratory failure. Patients are often dehydrated, as their plated skin is not well suited to retaining water. Cause
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. Mutations in the gene cause impaired transport of lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development.