Incontinentia pigmenti (IP) is a genetic condition that affects the skin and other body systems. Skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. The growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood.
Is Incontinentia Pigmenti lethal in males?
Incontinentia pigmenti (IP) is an X-linked dominant disorder and in males, is usually lethal before birth. In affected females, it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system.
Why is it called Incontinentia Pigmenti?
IP is an X-linked dominant genetic disorder caused by changes (mutations) in the IKBKG gene. IP was named based on the appearance of the skin under the microscope during the later stages of the condition.
How many cases of Incontinentia Pigmenti in the world?
IP is a rare X-linked dominant disorder. About 700 to 1000 cases have been reported worldwide (about 1 in 50,000 live births); white infants are most commonly affected. In a review of 653 patients, more than half had a family history of the condition. Our patient’s mother was also affected.
How is Incontinentia Pigmenti treated?
There is no specific treatment for incontinentia pigmenti. The main goal is to prevent secondary bacterial infection of skin lesions and to monitor closely the development of related problems. This should include regular dental care and close monitoring by an ophthalmologist for the first few years of life.
What is ash leaf spots?
Hypopigmented macules, also known as “ash-leaf spots,” can be present at birth and are most common on the trunk and lower extremities. They appear in 80 percent of persons with tuberous sclerosis by one year of age. Thus, they are the earliest indicator of this disorder.
What is Nevoid hypopigmentation?
Abstract. Linear and whorled nevoid hypermelanosis (LWNH) is a rare disorder of pigmentation characterized by hyperpigmented macules in a linear or whorled streaky configuration. Lesions are distributed mainly on the trunk and extremities, sparing the palms, soles, and mucosae.
