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Incontinentia pigmenti is skin condition passed down through families. It leads to unusual blistering and changes in skin color.
See also: Incontinentia pigmenti achromians
Alternative NamesBloch-Sulzberger syndrome
Causes, incidence, and risk factorsIncontinentia pigmenti (IP) is caused by a genetic defect. In most cases, there is a problem with one of the genes located on the X chromosome.
See also: X-linked trait
The condition is most often seen in females. When it occurs in males, it can be deadly.
Most babies born with IP develop discolored skin within the first 2 weeks. The discolored skin occurs when a substance called melanin builds up under the skin. Melanin gives skin its color.
SymptomsInfants with IP are born with streaky, blistering areas. When the areas heal, they turn into rough bumps. Eventually, these bumps go away, but leave behind darkened skin, called hyperpigmentation. After several years, the skin returns to normal. In some adults, there may be areas of lighter colored skin (hypopigmentation).
IP is associated with central nervous systemproblems, including:
- Delayed development
- Loss of movement (paralysis)
- Mental retardation
- Muscle spasms
- Seizures
Persons with IP may also have abnormal teeth, hair loss, and visual problems.
Signs and testsThe doctor will perform a physical exam, look at the eyes, and test muscle movement.
There may be unusual patterns and blisters on the skin, as well as bone abnormalities. An eye exam may reveal cataracts, strabismus (crossed eyes), or other problems.
TreatmentThere is no specific treatment for IP. Treatment is aimed at the individual symptoms. For example, glasses may be needed to improve vision. Medicine may be prescribed to help control seizures or muscle spasms.
Expectations (prognosis)How well a person does depends on the severity of central nervous system involvement and eye problems.
Complications- Delayed development
- Infections of blistered skin
- Mental retardation
- Muscle spasticity
- Paralysis
- Seizures
- Walking difficulty
- Vision problems
Call your health care provider if:
- You have a family history of IP and are considering having children
- Your child has symptoms of this disorder
Genetic counseling may be helpful for those with a family history of IP who are considering having children.
Wiki User
∙ 13y ago
Wiki User
∙ 12y agoIncontinentia pigmenti is skin condition passed down through families. It leads to unusual blistering and changes in skin color.
See also: Incontinentia pigmenti achromians
Alternative NamesBloch-Sulzberger syndrome
Causes, incidence, and risk factorsIncontinentia pigmenti (IP) is caused by a genetic defect. In most cases, there is a problem with one of the genes located on the X chromosome.
See also: X-linked trait
The condition is most often seen in females. When it occurs in males, it can be deadly.
Most babies born with IP develop discolored skin within the first 2 weeks. The discolored skin occurs when a substance called melanin builds up under the skin. Melanin gives skin its color.
SymptomsInfants with IP are born with streaky, blistering areas. When the areas heal, they turn into rough bumps. Eventually, these bumps go away, but leave behind darkened skin, called hyperpigmentation. After several years, the skin returns to normal. In some adults, there may be areas of lighter colored skin (hypopigmentation).
IP is associated with central nervous systemproblems, including:
- Delayed development
- Loss of movement (paralysis)
- Mental retardation
- Muscle spasms
- Seizures
Persons with IP may also have abnormal teeth, hair loss, and visual problems.
Signs and testsThe doctor will perform a physical exam, look at the eyes, and test muscle movement.
There may be unusual patterns and blisters on the skin, as well as bone abnormalities. An eye exam may reveal cataracts, strabismus (crossed eyes), or other problems.
TreatmentThere is no specific treatment for IP. Treatment is aimed at the individual symptoms. For example, glasses may be needed to improve vision. Medicine may be prescribed to help control seizures or muscle spasms.
Expectations (prognosis)How well a person does depends on the severity of central nervous system involvement and eye problems.
Complications- Delayed development
- Infections of blistered skin
- Mental retardation
- Muscle spasticity
- Paralysis
- Seizures
- Walking difficulty
- Vision problems
Call your health care provider if:
- You have a family history of IP and are considering having children
- Your child has symptoms of this disorder
Genetic counseling may be helpful for those with a family history of IP who are considering having children.
Reviewed ByReview Date: 05/13/2011
Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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What is incontinentia pigmenti?
Incontinentia pigmenti is a rare genetic disease resulting in a neurocutaneous disorder affecting the nervous system whose abnormalities can involve the skin, hair, and teeth of affected individuals.
What is treatment for incontinentia pigmenti?
As there is no cure for incontinentia pigmenti, treatment is based on symptoms. The risk of infection from blisters is a consideration, and topical medications can often be used to lessen pain
What is the average life span of a person with incontinentia pigment?
The average lifespan of someone with incontinentia pigmenti can vary depending on the severity of symptoms and associated complications. With proper medical management and treatment, many individuals with this condition can live a normal lifespan. Regular follow-up care with a healthcare provider is important to monitor for any potential complications.
What neurological problems are associated with incontinentia pigmenti?
Neurological problems associated with incontinentia pigmenti include cerebral atrophy, leading to poor muscle control and weakness. Mental retardation and seizures are also similarly present.
What types of professionals assist in treatment of incontinentia pigmenti?
The treatment team consists of a neurologist , clinical geneticist, genetic counselor, speech pathologist, ophthalmologist, and a dermatologist.
How is diagnosis for incontinentia pigmenti conducted?
Diagnosis is achieved first by a clinical diagnosis from a clinical geneticist, followed by molecular genetic testing in a CLIA-approved diagnostic laboratory
What are the stages in which incontinentia pigmenti produces defects in the skin?
The first stage usually occurs before four months old when the blisters appear in the skin. The second stage involves a wart-like rash, while the third brings darkened pigmentation and the last,linear hypopigmentation
What role does heredity play in transmission of incontinentia pigmenti?
The gene that is defective in this disease is located on the X chromosome and is inherited as a dominant disorder, meaning that a child of an affected mother has a 50% risk of inheriting the disorder. If mother has IP then female child has 50% chance of inheriting IP. The male child with IP usually do not survive.
What could be the cause of blisters on new born baby?
Two of the main causes of blisters on a newborn baby are toxic erythema of the newborn and malaria. Other possible causes include bacteria, fungi and viral infections, neonatal cephalic pustulosis or incontentia pigmenti.
Incontinentia pigmenti achromians?
DefinitionIncontinentia pigmenti achromians is a rare birth defect that causes unusual patches of light-colored (hypopigmented) skin and possible neurological and skeletal problems.See also: HypopigmentationAlternative NamesHypomelanosis of Ito (more commonly used)Causes, incidence, and risk factorsThe cause is unknown. It is slightly more common in girls than in boys.SymptomsCrossed eyes(strabismus)Increased body hair (hirsutism)ScoliosisSeizuresStreaked, whirled or mottled patchs of skin on the arms, legs, and middle of the bodyVarying degrees of retardationSigns and testsA Wood's lamp examination of the skin lesions may help confirm the diagnosis. Your doctor may also recommend chromosome analysis or a further medical workup to discover any related medical problems.TreatmentThere is no treatment for the hypopigmentation. Treatment consists of treating the symptoms. Cosmetics or clothing may be used to cover the hypopigmented spots if desired. Seizures, scoliosis, and other problems are treated as necessary.Expectations (prognosis)What happens depends on the type and severity of symptoms that develop. In most cases, the skin pigment eventually returns to normal.ComplicationsDiscomfort and walking problems due to scoliosisEmotional distress related to the physical appearanceMental retardationSeizures and resulting possible injuryCalling your health care providerCall your health care provider if your child exhibits an unusual pattern of the color of the skin.ReferencesGenodermatoses and Congenital Anomolies. In: James WD, Berger TG, Elston DM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 10th ed. Philadelphia, Pa: Saunders Elsevier; 2005: chap 27.Moss C. Mosaicism and Linear Lesions. In: Bolognia JL, Jorizzo JL, Rapini RP, eds.: Dermatology. 2nd ed. Philadelphia, Pa: Mosby Elsevier; 2008: chap 61.
Tooth - abnormal shape?
DefinitionAn abnormally shaped tooth is any tooth that has an irregular shape.Alternative NamesHutchinson incisors; Abnormal tooth shape; Peg teeth; Mulberry teeth; Conical teethConsiderationsThe appearance of normal teeth varies, especially the molars. Abnormally shaped teeth can result from many different conditions. Specific diseases can have a profound effect on tooth shape, tooth color, time of appearance, or absence of teeth.Common CausesCongenital syphilisCerebral palsyEctodermal dysplasia, anhidroticIncontinentia pigmenti achromiansCleidocranial dysostosisEhlers-Danlos syndromeEllis-van Creveld syndromeCall your health care provider ifIf the shape of your child's teeth appears to be abnormal, consult a dentist or other health care provider.What to expect at your health care provider's officeThe dentist will examine the mouth and teeth. You will be asked questions about your child's medical history and symptoms, such as:Does the child have any medical conditions that may cause abnormal tooth shape?At what age did the teeth appear?In what order did the teeth appear?Are there other tooth problems (color, spacing)?What other symptoms are also present?Diagnostic tests that may be performed may include dental x-rays.
Tooth formation - delayed or absent?
Alternative NamesDelayed or absent tooth formation; Teeth - delayed or absent formationConsiderationsThe timing of the first appearance of teeth varies. Most infants get their first tooth between 6 and 9 months, although earlier or later eruption may be normal.In some cases, children or adults are missing teeth they never developed. In such cases cosmetic or orthodontic dentistry can correct the absence of those teeth.Common CausesSpecific diseases can have a profound effect on tooth shape, tooth color, time of appearance, or tooth absence. Delayed or absent tooth formation can result from many different conditions, including:Apert syndromeCleidocranial dysostosisDown syndromeEctodermal dysplasiaEllis-van Creveld syndromeHypothyroidismHypoparathyroidismIncontinentia pigmenti achromiansProgeriaCall your health care provider ifIf your child has not developed any teeth by the time the child is 9 months old, consult your health care provider.What to expect at your health care provider's officeThe health care provider will perform a physical examination, including a detailed examination of the mouth and gums, and ask questions such as:In what order did the teeth emerge?At what age did other family members develop teeth?Are there any other family members that have teeth that never "came in"?What other symptoms are also present?An infant with delayed or absent tooth formation may have other symptoms and signs that, when taken together, define a specific syndrome or condition.Diagnostic tests are usually not necessary unless a disorder is suspected as the cause. Most often, delayed tooth formation is a normal finding. Occasionally, dental x-rays will be needed.
