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Incontinentia Pigmenti
Wednesday, 20 October 2004
Monday, 29 November 2004
Bloch-Sulzberger syndrome


Incontinentia Pigmenti (IP) is a rare genetic condition that affects the skin, hair, teeth, and nails. The skin lesions evolve through characteristic stages and hair loss, missing teeth, abnormal tooth shape, and abnormal nails are characteristic of this disorder. Developmental delay and learning problems are also occasionally seen in children with IP. It received its name because the skin pigment appears broken up when viewed under a microscope.


IP is a rare disease, exactly how often this disorder occurs is not known. It is more common in Caucasian patients. Ninety five percent of patients are female because the disease is usually lethal in males.

Signs and Symptoms

Most children with IP have the characteristic skin changes at birth. The skin findings evolve through four stages. In Stage 1, a linear, red, blistering rash on the arm, legs and scalp is seen. This rash is not painful or itchy and resolves without treatment after a few weeks to months. In Stage 2, thickened wart-like lesions appear in lines or swirling lines on the arms and legs lasting less than one year. Stage 3 usually appears between 6 to 12 months of life and may or may not involve the same skin areas that were affected previously. Brownish streaks and whorls are found on the body, arms and legs. In Stage 4, thin, whitish, scarring patches appear on the legs and scalp. These fade away in the late teens and disappear completely by the age of 20 years. Children with IP may have other abnormalities. The severity of symptoms varies from child to child and include; • Teeth: Missing or absent teeth (hypodontia/anodontia), small teeth (microdontia), abnormally shaped teeth • Hair: Baldness (alopecia), woolly hair (lusterless, wiry, coarse) • Nails: mild ridging or pitting; enlargement with increased thickening and curvature of the fingernails or toenails (onychogryposis) • Retina: Abnormal blood vessel formation (peripheral neovascularization)

Possible Causes

The gene for IP, named NEMO, is located on the X chromosome. A genetic change (mutation) in the NEMO gene results in a protein that does not function correctly. IP is inherited in an X-linked dominant manner. This means that only one copy of the NEMO gene with a change is necessary to cause this disease. Females have two copies of the X chromosome. Normally, one copy is randomly inactivated in each cell during development. If the normal copy is inactivated, then that cell will die. This random pattern of cell destruction results in the characteristic “marble cake-like” skin findings of IP. Because males have only one copy of the X chromosome, all their cells are destroyed, resulting in a miscarriage. Few males have been documented with IP. Most of these individuals have Klinefelter syndrome (47 XXY), where an extra copy of the X chromosome is present and can balance the mutation. If a female with IP has children, half of the daughters will have IP, but all live-born sons will likely be normal.


The diagnosis of incontinentia pigmenti (IP) relies upon detection of the characteristic clinical findings of the skin, teeth, hair, and nails. Increased white blood cells (especially of the eosinophil subgroup) are present on blood testing. Imaging of the brain by CT or MRI will show structural abnormalities, such as decreased growth of the brain and the communicating fibers between the right and left hemispheres (corpus callosum). EEG may show seizure tendency. Males with IP should have chromosomal studies done to detect Klinefelter syndrome. Skin biopsy confirms the diagnosis of IP.


No treatment of the skin lesions is required apart from keeping the skin clean to prevent infection. Good oral hygiene and regular dentist visits are important. Seizures can be treated with anticonvulsant medications. Eye abnormalities may require laser or surgical intervention to prevent blindness. Regular follow-up with an ophthalmologist, especially at birth and in the first few years of life, is critical to preserve vision.


The prognosis of IP depends on the severity of the associated abnormalities, but is generally good. Those with abnormal brain structure and early seizures are at greater risk for developmental delay and learning difficulties.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Incontinentia Pigmenti International Foundation
Offers support groups and research updates.

Genetics Home Reference
Provides support and advocacy for families with children with genetic diseases.

Google Search for Incontinentia Pigmenti

References and Sources