Incontinentia Pigmenti (IP)

What is incontinentia pigmenti?

Incontinentia pigmenti (IP) is a genetic disorder that affects the skin, hair, teeth, and central nervous system (CNS). IP is a progressive disorder occurring over four stages. The first stage can appear as early as birth, and often develops in early infancy. IP is typically identified by a blistering rash, occurring in infancy, that develops into swirled grey or brown skin growths. IP may also be known as:

Bloch-Siemens incontinentia pigmenti melanoblastosis cutis linearis
Bloch-Sulzberger syndrome
pigmented dermatosis, Siemens-Bloch type

What are the symptoms of incontinentia pigmenti?

IP is most readily identified by its affects on the skin. Skin changes take place over four stages. Regardless of the stage of IP’s progression, skin lesions appear in lines on the arms and legs, or a swirled pattern on the trunk. Stage 1 – Presents at birth or early infancy. Consists of redness or inflammation of skin, blistering, and boils. Most commonly affects the extremities and/or scalp. May vanish, and return chronically over the course of a year. Stage 2 – May be present at birth and coincide with stage 1. Blisters become raised, and wart-like in appearance. Lesions also become wart-like. Areas that are healing may develop thick crust or scabs, along with darkening of the skin. Mostly if not exclusively affects the extremities. Stage 3 – Usually appears between the ages of six and 12 months, but may be present at birth alongside stages 1 and/or 2. Skin darkens, taking on a “marble cake” appearance on the trunk. Heavier pigmentation often fades over time with occasional thickening and widening of the pigmented areas leading to streaky pigmentation of the skin. Stage 4 – The fourth stage may also be referred to as the atrophic stage. Scarring appears. Scars usually present as pale hairless patches in adults and teens. Skin changes may fade and become relatively unnoticeable. Other symptoms include abnormalities in teeth, hair, nails, and eyes. Somewhere between half and three quarters of IP patients present with dental abnormalities. This may included malformed, often peg-like or conical, teeth, small teeth, or absence of teeth altogether. Around one third of those diagnosed with IP have some form of ocular abnormality. Though it is least frequent, the most serious symptoms is a small, abnormal eye. Any patient may experience abnormalities in the development of the retina (typically before the age of five) which left untreated could result in permanent damage or blindness. Some cases of IP result in rigged, pitted, thickened, or altogether missing nails. This may occur on either or both the hands and feet. Roughly half of people presenting with IP abnormal baldness. Patches of baldness usually occur in areas affected by scarring in stages 1 or 2. Some IP patients will also experience slow motor development, muscle weakness, seizures, or neonatal strokes.

What causes incontinentia pigmenti?

IP is passed by an x-linked dominant genetic pattern. IP is specifically caused by a mutation in the IKBKG gene that helps regulate the production of a regulatory protein that protects cells in the body from self-destruction.

How is incontinentia pigmenti diagnosed?

Diagnosis of IP is dependent upon clinical evaluation, thorough study of patient history, and genetic testing for mutation in the IKBKG gene. Eye exams, MRI, EEG tests can be useful in pursuing a diagnosis, or detecting IP early in infants.

What are the treatments for incontinentia pigmenti?

Skin abnormalities associated with IP typically disappear in late teenage years, or adulthood. Cryotherapy, or laser treatment may be used to treat deformities in the retina. Dental implants can aid in the treatment of abnormalities affecting the teeth. Hair and baldness may require treatment by a dermatologist, but are usually not severe. Neurological disorder may require treatment by targeted medications. Genetic counseling is recommended for patients of IP and their families.

Where can I find out more about incontinentia pigmenti?