Incontinentia Pigmenti: Treatment, Cost and Side Effects

Incontinentia Pigmenti is a rare medical condition which can affect one or more body systems such as the skin, eyes and hair. This condition is however more common in women than men. It is characterized by abnormalities of the skin that evolve through young adulthood and childhood. Most infants affected by this disorder have blister and rashes at birth and throughout infancy. These rashes heal and develop into warts or skin growths. During early childhood, the skin usually develops brown or grey patches (hyperpigmentation) which start to appear as swirling patterns. These patches start fading when the person reaches adulthood and develop into lines that are very unusually coloured. This is called hypopigmentation. These lines appear in the legs and arms of the affected person. Additional signs of Incontinentia Pigmenti include, dental abnormalities, alopecia or hair loss affecting other parts of the body along with the scalp, pitted toenails or fingernails and vision loss. This disorder can affect the brain too causing neurological problems like seizures, intellectual disability and delayed development.

Incontinentia Pigmenti is linked to a dominant genetic disorder which is caused by mutations present in the IKBKG gene that is known as NEMO. This gene is responsible for producing a protein which helps to regulate other different proteins that help to protect the cells from getting destroyed due to some specific triggers. Female who have this condition get affected when they have an X chromosome along with the gene of a particular disease. Males with an abnormal gene are more severely affected than females. Since this disorder affects the eyes, teeth and hair in most individual, treatment is firstly done to treat the eye as it the most vital organ. Incontinentia Pigmenti may cause retinal neovascularisation which can lead to retinal detachment. Cryotherapy or Cryopexy is very common to prevent or cure retinal detachment.

For treating the symptoms of Incontinentia Pigmenti, first is has to be diagnosed. The diagnosis is based on molecular genetic testing for mutations in the gene, detailed patient history and clinical evaluation. IKBKG gene is the only gene which is linked with Incontinentia Pigmenti. 65% of people suffering from this disorder have deletion in this gene sequence, the other 20% have mutations due to gene sequencing. A skin biopsy is carried out to confirm the diagnosis of Incontinentia Pigmenti. However, due to the availability of genetic testing, skin biopsy is rarely performed. For some patients who have questionable or borderline findings have to get skin biopsy done for the complete diagnosis of Incontinentia Pigmenti.

People who have retinal detachment or are nearing retinal disorder caused due to this disorder are advised to go through cryotherapy. This treatment involves sitting in a cryotherapy booth for at least 3 to 5 minutes. Many people undergo facials in the cryotherapy booth in which the face is exposed to cold temperature, to help in tightening the skin. Cryotherapy can also target and give relief to painful areas like joints and muscles. Cryotherapy can be administered to the whole body or just to the affected area. This surgery creates a type of adhesive scar which seals the retina to the walls of the eye. This is similar to laser treatment, the only difference being that the treatment is achieved using cold temperature rather than heat. Cryotherapy procedure performed in the eye to treat retinal detachment is known as Cryopexy.

Cryopexy is usually performed to heal retinal tears. The retina which surrounds the tear is frozen creating a scar which joins the tissues to the eye wall. It is used as a part of scleral buckling or pneumatic retinopexy as a part of retinal detachment treatment. People who want to freeze off cancerous cells and warts can also try Cryotherapy. This treatment is very helpful in treating or reducing the symptoms of arthritis, muscle or joint pain, inflammation, preventing dementia, eczema and treating migraines. Some studies suggest that, anxiety and depression can also be relieved with the help of Cryotherapy.

Cryotherapy is usually safe, but it is important to get recommendation from a doctor before going through this treatment. People who have high blood pressure, children and pregnant women should not try Cryotherapy as it can cause severe health issues. A person should stay awake and not fall off to sleep during this treatment. Each session of Cryotherapy should not be longer than the time frame advised or it can cause hypothermia.

Even though Cryotherapy can decrease nerve irritation, it can at times affect the tissue with unusual sensations like irritation, redness, tingling or numbness of the skin. If a person sits in the booth for more than the specified time, he/she can be at a risk of developing hypothermia. However these risks are rare and temporary. If Cryotherapy is performed inside the eye then there can be risks like glaucoma, double vision, needle bleeding or infection.

After the procedure, the patient is observed for 30 to 60 minutes. Pain medication or Tylenol is given. Complete healing taken 10 to 14 days. The eyes can be swollen and vision can be blurry for a few days, but it usually comes back to normal with time.

Firstly, the eye is numbed with an injection and then the procedure takes place. The doctor then inserts a freezing probe into the eye and the tear is frozen so that the tissue sticks to the wall. After the treatment, a patch has to be worn in the eye for hours because the eye surface can be very dry if the patch is not worn.

The price of cryotherapy or cryopexy in India is approximately Rs.40,000 to Rs.1,00,000.

The results of the treatment are usually permanent if it is done by a well experienced eye surgeon.

Alternatives to Cryopexy include laser photocoagulation where heat is applied to seal the tissue and cure retinal detachment caused due to Incontinentia Pigmenti.