This recently-described progressive hereditary disorder (also known as HLTRS) has skin and hair abnormalities along with kidney disease and hypertension.
This is a progressive condition with a number of facial, skin, and hair features present at birth. The hair is sparse and by several years of age virtually all hair is lost, including the eyebrows and eyelashes. The eyelids and the scrotum are often puffy and swollen at birth. The nose appears long and has a broad, high bridge. The skin of the scalp, scrotum together with the arms and legs contains small vascular anomalies called telangiectases consisting of nodules of twisted capillaries.
Evidence of kidney disease can be evident by two years of age based on abnormal amounts of protein in the urine. The damage in the kidneys is progressive as hypertension develops and eventually both children and young adults may need kidney transplantation.
A gene change (mutation) has been found to be associated with this disorder but only one member of a pair needs to be changed. Therefore an affected parent who may be only mildly affected passes on the mutation with a 50% probability to each child. This is called autosomal dominant inheritance.
HLTRS is diagnosable at birth but it is a rare syndrome and likely requires a collaborative approach with pediatricians, kidney specialists, dermatologists, and neurologists. The most serious aspect of the disease is kidney failure from progressive disease but patients can benefit from kidney transplantation to restore normal function. Individuals need to be monitored for hypertension and treated promptly.