Is Incontinentia Pigmenti a disability?
Most people with incontinentia pigmenti have normal intelligence; however, this condition may affect the brain. Associated problems can include delayed development or intellectual disability, seizures, and other neurological problems.
Why is it called Incontinentia Pigmenti?
It is named from its appearance under a microscope. The disease is characterized by skin abnormalities that begin in childhood, usually a blistering rash which heals, followed by the development of harder skin growths. The skin may develop grey or brown patches which fade with time.
Who discovered Incontinentia Pigmenti?
First described by Bloch in 1926, and Sulzberger in 1928, incontinentia pigmenti (IP) is a rare X-linked genodermatosis [1, 2], which name is related to the histological characteristics of the lesions in the third stage (or pigmentary stage) of the disease (Tab.
How rare is hereditary spastic paraplegia?
It’s also known as familial spastic paraparesis or Strümpell-Lorrain syndrome. It’s difficult to know exactly how many people have hereditary spastic paraplegia because it’s often misdiagnosed. Estimates range from 1 in 11,000 people to 1 in 77,000 people.
How many people have Hypomelanosis of Ito?
Affected Populations The incidence of hypomelanosis of Ito is estimated to be 1 in 8,000-10,000 people in the general population. The symptoms usually become apparent during the first or second year of life. Hypomelanosis of Ito was first described in the medical literature in 1952.
What chromosome is Incontinentia Pigmenti located on?
The incontinentia pigmenti gene is localised on chromosome Xq28. This gene normally codes for the nuclear factor-KB essential modulator protein and is known as the IKBKG gene (formerly known as NEMO or NF-kappaB gene).
Is Hypomelanosis of Ito hereditary?
The chromosomal abnormalities affecting hypomelanosis of Ito occur after fertilization, often for unknown reasons (spontaneously). The disorder is not inherited. The specific gene(s) involved in the development of hypomelanosis of Ito have not been identified.
Is Hypomelanosis treatable?
Idiopathic guttate hypomelanosis is a common acquired skin condition characterized by multiple discrete, round, porcelain-white macules on the extensor aspects of the extremities in the elderly population. Most patients are reassured of the benign nature of the condition and no treatment is recommended.