Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth.
[4] These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs.
[3] Other complications can include premature birth, infection, problems with body temperature, and dehydration.
[4] This gene codes for a protein necessary for transporting lipids out of cells in the outermost layer of skin.
[9][8] Children who survive the first year of life often have long-term problems such as red skin, joint contractures and delayed growth.
[14] People with this condition are extremely sensitive to changes in temperature due to their hard, cracked skin, which prevents normal heat loss.
Physical examination reveals characteristic symptoms of the condition, especially the abnormalities in the skin surface of newborns.
Abnormal findings in physical assessments usually result in employing other diagnostic tests to ascertain the diagnosis.
Nutritional support with tube feeding is essential until eclabium resolves and infants can begin nursing.
Ophthalmologic consultation is useful for the early management of ectropion, which is initially pronounced and resolves as scales are shed.
In addition, careful debridement of constrictive bands of hyperkeratosis should be performed to avoid digital ischemia.
[20] After as little as two weeks of daily oral isotretinoin, fissures in the skin can heal, and plate-like scales can nearly resolve.
Patients can have generalized poor hair growth, scarring alopecia, contractures of digits, arthralgias, failure to thrive, hypothyroidism, and short stature.
[21] Survivors can also develop fish-like scales and retention of a waxy, yellowish material in seborrheic areas, with ear adhered to the scalp.
[22] A study published in 2011 in the Archives of Dermatology concluded: "Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal.
Oliver Hart from Charleston, South Carolina: "On Thursday, April the 5th, 1750, I went to see a most deplorable object of a child, born the night before of one Mary Evans in 'Chas'town.
The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold.
"[24]The harlequin-type designation comes from the diamond shape of the scales at birth (resembling the costume of Arlecchino).