Incontinentia pigmenti
Bloch-Sulzberger syndrome; Bloch-Siemens syndromeIncontinentia pigmenti (IP) is a rare skin condition passed down through families. It affects the skin, hair, eyes, teeth, and nervous system.
Causes
IP is caused by an X-linked dominant genetic defect that occurs on a gene known as IKBKG.
X-linked dominant
Sex-linked dominant is a rare way that a genetic trait or disorder can be passed down through families. One abnormal gene on the X chromosome can ca...
Because the gene defect occurs on the X chromosome, the condition is most often seen in females. When it occurs in males, it is usually lethal in the fetus and results in miscarriage.
Symptoms
With the skin symptoms, there are 4 stages. Infants with IP are born with streaky, blistering areas. In stage 2, when the areas heal, they turn into rough bumps. In stage 3, the bumps go away, but leave behind darkened skin, called hyperpigmentation. After several years, the skin returns to normal. In stage 4, there may be areas of lighter-colored skin (hypopigmentation) that are thinner.
Blistering
A vesicle is a small fluid-filled blister on the skin.
Hyperpigmentation
Abnormally dark or light skin is skin that has turned darker or lighter than normal.
Hypopigmentation
Patchy skin color is areas where the skin color is irregular with lighter or darker areas. Mottling or mottled skin refers to blood vessel changes i...
IP is associated with central nervous system problems, including:
Central nervous system
The central nervous system is composed of the brain and spinal cord. Your brain and spinal cord serve as the main "processing center" for your entir...
- Delayed development
- Loss of movement (paralysis)
- Intellectual disability
Intellectual disability
Intellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...
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- Seizures
Seizures
A seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...
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People with IP may also have abnormal teeth, hair loss, and vision problems.
Hair loss
Partial or complete loss of hair is called alopecia.
Vision problems
There are many types of eye problems and vision disturbances, such as: Halos Blurred vision (the loss of sharpness of vision and the inability to see...
Exams and Tests
Your child's health care provider 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.
Strabismus
Strabismus is a disorder in which both eyes do not line up in the same direction. Therefore, they do not look at the same object at the same time. ...
To confirm the diagnosis, these tests may be done:
- Blood tests
- Skin biopsy
Skin biopsy
A skin lesion biopsy is when a small amount of skin is removed so it can be examined under a microscope. The skin is tested to look for skin conditi...
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CT
A head computed tomography (CT) scan uses many x-rays to create pictures of the head, including the skull, brain, eye sockets, and sinuses.
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A head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...
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Treatment
There 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.
Support Groups
More information and support groups for people with IP and their families can be found at:
- National Foundation for Ectodermal Dysplasias -- www.nfed.org/about-us/how-we-help/
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/incontinentia-pigmenti/
Outlook (Prognosis)
How well a person does depends on the severity of central nervous system involvement and eye problems.
When to Contact a Medical Professional
Contact your provider if:
- You have a family history of IP and are considering having children
- Your child has symptoms of this disorder
Prevention
Genetic counseling may be helpful for those with a family history of IP who are considering having children.
References
Islam MP, Roach ES. Neurocutaneous syndromes. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff’s Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 99.
James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Genodermatoses and congenital anomalies. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews' Diseases of the Skin. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 27.
Patterson JW. Disorders of pigmentation. In: Patterson JW, ed. Weedon's Skin Pathology. 5th ed. Philadelphia, PA: Elsevier Limited; 2021:chap 11.
Incontinentia pigmenti produces darkly-pigmented swirling marks on the skin. It occurs more frequently in females. The skin lesions are divided into three stages blisters (vesicles and bullae) are present at birth or within the first 6 to 7 weeks, followed by a rough wart-like (verrucous) stage, and lastly, swirled and bizarre patterns of dark pigmentation (hyperpigmentation) appear.
Incontinentia pigmenti on the leg
illustration
Incontinentia pigmenti produces darkly-pigmented swirling marks on the skin. It occurs more frequently in females. The skin lesions are divided into three stages blisters (vesicles and bullae) are present at birth or within the first 6 to 7 weeks, followed by a rough wart-like (verrucous) stage, and lastly, swirled and bizarre patterns of dark pigmentation (hyperpigmentation) appear.
Incontinentia pigmenti on the leg
illustration
Incontinentia pigmenti produces darkly-pigmented swirling marks on the skin. It occurs more frequently in females. The skin lesions are divided into three stages blisters (vesicles and bullae) are present at birth or within the first 6 to 7 weeks, followed by a rough wart-like (verrucous) stage, and lastly, swirled and bizarre patterns of dark pigmentation (hyperpigmentation) appear.
Incontinentia pigmenti on the leg
illustration
Incontinentia pigmenti produces darkly-pigmented swirling marks on the skin. It occurs more frequently in females. The skin lesions are divided into three stages blisters (vesicles and bullae) are present at birth or within the first 6 to 7 weeks, followed by a rough wart-like (verrucous) stage, and lastly, swirled and bizarre patterns of dark pigmentation (hyperpigmentation) appear.
Incontinentia pigmenti on the leg
illustration
Review Date: 6/7/2023
Reviewed By: Elika Hoss, MD, Assistant Professor of Dermatology, Mayo Clinic, Scottsdale, AZ. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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