Incontinentia pigmenti: Disorders of eyes and skin

Incontinentia pigmenti is a condition that mainly affects the eyes and skin, but other body systems may also be affected. All kinds of eye disorders including strabismus and retinal degeneration are possible, which means that the patient has reduced vision. In addition, blisters and then warts develop on the skin, resulting in color changes. This condition is also much more common in women than in men. Treatment is aimed at reducing eye disorders and other symptoms. The dermatologist often does not treat the skin condition. The prospects for patients are good.

Synonyms of incontinentia pigmenti

Incontinentia pigmenti is also known by these synonyms:
  • Bloch-Siemens-Sulzberger Syndrome
  • Bloch-Siemens syndrome
  • Bloch-Sulzberger Syndrome
  • IP

Epidemiology disorder

Incontinentia pigmenti is a rare condition. A thousand patients have been reported since the condition was described. Most patients are female, but a few dozen male patients have also been identified.

Causes and heredity

Gene mutation

This condition is the result of a mutation (change) in the IKBKG gene (obsolete term = NEMO gene) that is located on the X chromosome. Due to the gene mutation a substance does not work properly that is responsible for the life cycle of the skin cell. This protein also plays a role in tooth and hair development.

Inheritance pattern

The disease is usually fatal in men. Most affected patients are therefore women. Since only one X chromosome carries this mutation, half of the male offspring of an affected woman will be normal. The other half, who inherits the mutated X chromosome, does not survive the condition and therefore no living male offspring inherit the condition. In other words, the disorder has an X-linked dominant inheritance pattern.

Symptoms: Skin and eye abnormalities

The symptoms of incontinentia pigmenti are usually obvious at birth (skin rashes and skin abnormalities in babies).


The skin has been characterized by rashes and blisters from birth. The skin lesions heal within four months, but up to the age of about six months the patient develops small wart-like growths. This eventually leads to pigment changes in the skin (hyperpigmentation: dark spots in the skin. The skin abnormalities have the appearance of a marbled pattern and remain present until adulthood. These spots fade with time. Adults with incontinentia pigmenti eventually have linear patterns on a light skin color (linear hypopigmentation) This skin abnormality is mainly found on the arms and legs.


The iris in the eyes shows changes. The iris, also known as the rainbow fleece, is the colored part of the eye. Scars with abnormal blood vessels are also noticeable in the retina (retina). Sometimes a retinal detachment occurs. Cataract (cataracts: cloudy eye lens), strabismus (strabism), optical atrophy (death of the optic nerve), uveitis and a pseudoglioma are common. The eyesight varies greatly but sometimes the patient is blind in both eyes.

Additional symptoms

Additional symptoms include hair loss (alopecia) or little hair on the scalp and other body parts, abnormalities in tooth development (small teeth or few teeth), nail abnormalities (fingers and toes), movement abnormalities (scoliosis, ataxia) and psychological problems. The intelligence is usually normal but sometimes the following neurological symptoms are possible: microcephaly (an abnormally small head), delayed development, a mental handicap, epileptic seizures, a half-sided paralysis, tetraplegia (paralysis of the four limbs and the trunk) and other neurological issues.

Diagnosis and investigations

Physical examination

The diagnosis of incontinentia pigmenti can be made on the basis of a thorough physical examination in which clinical findings of the skin, the teeth, the hair, the nails, the eyes, the central nervous system and a possible family history are shown. Further investigations are needed to confirm the diagnosis.

Diagnostic research

The doctor examines the patient and performs a blood test. A skin biopsy is also useful. A genetic test confirms the diagnosis.

Differential diagnosis

The series of symptoms of the incontinentia pigmenti disorder shows similarities with a number of disorders and syndromes. Sometimes the doctor makes a false diagnosis because of this, and therefore they are known as the differential diagnosis:
  • bullous LE
  • dermatitis herpetiformis (skin disease after eating gluten)
  • epidermolysis bullosa (release of epidermis and blistering)
  • ILVEN (inflammatory linear verrucous epidermal nevus)
  • infectious cause (chicken pox (varicella: usually mild viral infection with general symptoms and skin rash), herpes simplex, impetigo bullosa (bacterial skin infection on face and limbs))
  • lichen striatus (skin disease with skin lesions on the arm or leg)
  • lichenoid drug eruption
  • linear epidermal nevus
  • linear IgA dermatosis (disorder of skin and mucous membranes)
  • linear lichen planus (symptoms in mouth, skin, genitals, nails and / or scalp)
  • linear and whorled nevoid hypermelanosis
  • nevus depigmentosus from Ito
  • parapemphigus (skin disease with blisters, especially in the elderly)
  • pemphigus vulgaris (ulcers and blisters on skin & mucous membranes)
  • reticular hyperpigmentation
  • segmental vitiligo (skin condition with white spots on the skin)


The treatment of the patient is done by a dermatologist, neurologist, orthopedist, dentist and eye doctor. The dermatologist may adopt a wait-and-see attitude with regard to skin abnormalities. But another treatment consists of cryotherapy (treatment via freezing) to freeze the skin lesions. Laser photocoagulation reduces the risk of retinal detachment. The other doctors treat symptomatically and supportively the other symptoms as needed. The patient should also receive regular eye examinations to detect and treat eye disorders in a timely manner.


Most women with the disease show fairly mild symptoms. In most cases, the life expectancy is not affected by the disease.

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