Hutchinson-Gilford Syndrome: Symptoms
Hutchinson-Gilford syndrome (HGS) is considered to be the classic progeria, despite the fact that several other progeroid syndromes are far more common. It is also known as “early onset” or “childhood progeria,” because unlike Werner’s syndrome it manifests in early infancy and causes death in most patients before the age of twenty. In the century since Hastings Gilford (1904) and Jonathon Hutchinson (1886) separately described instances of this rare disease, only about 100 cases have been reported, and many of these diagnoses are questionable. HGS is easily confused with several other diseases, particularly mandibuloacral dysplasia or Rothmund-Thomson syndrome. In fact, mandibuloacral dysplasia is so much like HGS in both presentation and cause that some scientists have suggested that the two are simply more or less acute forms of the same disease.
Although there have been examples from many races and ethnicities, the vast majority of HGS cases have been Caucasian. Additionally, the disease seems to show a not-inconsiderable prejudice towards males. The ratio of male:female appearance is approximately 1.5:1. Unlike most other progeroid syndromes, the parents of HGS patients are most often not closely related by blood. This lack of consanguinity suggests that the disease may be caused by a new mutation with each instantiation, rather than the autosomal recessive pattern that characterizes other progeroid syndromes.
Infants with HGS often appear normal at birth, but develop symptoms of the disease shortly thereafter. The most noticeable symptoms of the disease are the short stature and distinctive facial features that characterize all HGS patients. Most often in the period between six months and one year of age, these children develop a large skull, and facial features that are comparatively small and compacted. The jawbone is often far smaller than normal, leading to crowding of the teeth. The nose has a “beaked” appearance, and the eyes are prominent in the face. HGS children also frequently have very large ears, and a high-pitched voice. Usually between the age of two and six, further symptoms manifest. These include loss of hair on both scalp and body, prominent veining on the scalp, thinning of arms and legs, and loss of body fat. Often the skin of HGS patients is thin and translucent, furthering the appearance of ageing.
The more serious symptoms of HGS are not visually identifiable. The disease is characterized by osteoporosis, often causing frequent and unhealed bone breaks. Another universal symptom of the disease is atherosclerosis (heart disease), which often develops before age ten. Other problems normally associated with ageing are also associated with HGS. These include arthritis, hip displacement, angina, and stroke. Mild mental retardation has also been linked to the disease. Despite this, HGS patients are free from symptoms characteristic of many other progeroid syndromes, particularly increased cancer risk.
The expected lifespan of children afflicted with HGS is short, with death occurring at an average age of 13.4 years. Nearly all HGS patients die of heart disease (often heart failure or heart attack) or stroke. In normal people, these causes are nearly unheard-of in a child of such young age, but HGS imitates a rapid ageing process, so that these children are physiologically quite ancient by age 10.