Incontinentia pigmenti is skin condition passed down through families. It leads to unusual blistering and changes in skin color.

See also: Incontinentia pigmenti achromians

Bloch-Sulzberger syndrome

Incontinentia pigmenti (IP) is caused by a genetic defect. In most cases, there is a problem with one of the genes located on the X chromosome.

See also: X-linked trait

The condition is most often seen in females. When it occurs in males, it can be deadly.

Most babies born with IP develop discolored skin within the first 2 weeks. The discolored skin occurs when a substance called melanin builds up under the skin. Melanin gives skin its color.

Infants with IP are born with streaky, blistering areas. When the areas heal, they turn into rough bumps. Eventually, these bumps go away, but leave behind darkened skin, called hyperpigmentation. After several years, the skin returns to normal. In some adults, there may be areas of lighter colored skin (hypopigmentation).

IP is associated with central nervous systemproblems, including:

• Delayed development
• Loss of movement (paralysis)
• Mental retardation
• Muscle spasms
• Seizures

Persons with IP may also have abnormal teeth, hair loss, and visual problems.

The doctor 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.

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.

How well a person does depends on the severity of central nervous system involvement and eye problems.

• Delayed development
• Infections of blistered skin
• Mental retardation
• Muscle spasticity
• Paralysis
• Seizures
• Walking difficulty
• Vision problems

Call your health care provider if:

• You have a family history of IP and are considering having children
• Your child has symptoms of this disorder

Genetic counseling may be helpful for those with a family history of IP who are considering having children.

Incontinentia pigmenti achromians is a rare birth defect that causes unusual patches of light-colored (hypopigmented) skin and possible neurological and skeletal problems.

See also: Hypopigmentation

Hypomelanosis of Ito (more commonly used)

The cause is unknown. It is slightly more common in girls than in boys.

• Crossed eyes(strabismus)
• Increased body hair (hirsutism)
• Scoliosis
• Seizures
• Streaked, whirled or mottled patchs of skin on the arms, legs, and middle of the body
• Varying degrees of retardation

A Wood's lamp examination of the skin lesions may help confirm the diagnosis. Your doctor may also recommend chromosome analysis or a further medical workup to discover any related medical problems.

There is no treatment for the hypopigmentation. Treatment consists of treating the symptoms. Cosmetics or clothing may be used to cover the hypopigmented spots if desired. Seizures, scoliosis, and other problems are treated as necessary.

What happens depends on the type and severity of symptoms that develop. In most cases, the skin pigment eventually returns to normal.

• Discomfort and walking problems due to scoliosis
• Emotional distress related to the physical appearance
• Mental retardation
• Seizures and resulting possible injury

Call your health care provider if your child exhibits an unusual pattern of the color of the skin.

Genodermatoses and Congenital Anomolies. In: James WD, Berger TG, Elston DM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 10th ed. Philadelphia, Pa: Saunders Elsevier; 2005: chap 27.

Moss C. Mosaicism and Linear Lesions. In: Bolognia JL, Jorizzo JL, Rapini RP, eds.: Dermatology. 2nd ed. Philadelphia, Pa: Mosby Elsevier; 2008: chap 61.

An abnormally shaped tooth is any tooth that has an irregular shape.

Hutchinson incisors; Abnormal tooth shape; Peg teeth; Mulberry teeth; Conical teeth

The appearance of normal teeth varies, especially the molars. Abnormally shaped teeth can result from many different conditions. Specific diseases can have a profound effect on tooth shape, tooth color, time of appearance, or absence of teeth.

• Congenital syphilis
• Cerebral palsy
• Ectodermal dysplasia, anhidrotic
• Incontinentia pigmenti achromians
• Cleidocranial dysostosis
• Ehlers-Danlos syndrome
• Ellis-van Creveld syndrome

If the shape of your child's teeth appears to be abnormal, consult a dentist or other health care provider.

The dentist will examine the mouth and teeth. You will be asked questions about your child's medical history and symptoms, such as:

• Does the child have any medical conditions that may cause abnormal tooth shape?
• At what age did the teeth appear?
• In what order did the teeth appear?
• Are there other tooth problems (color, spacing)?
• What other symptoms are also present?

Diagnostic tests that may be performed may include dental x-rays.

Delayed or absent tooth formation; Teeth - delayed or absent formation

The timing of the first appearance of teeth varies. Most infants get their first tooth between 6 and 9 months, although earlier or later eruption may be normal.

In some cases, children or adults are missing teeth they never developed. In such cases cosmetic or orthodontic dentistry can correct the absence of those teeth.

Specific diseases can have a profound effect on tooth shape, tooth color, time of appearance, or tooth absence. Delayed or absent tooth formation can result from many different conditions, including:

• Apert syndrome
• Cleidocranial dysostosis
• Down syndrome
• Ectodermal dysplasia
• Ellis-van Creveld syndrome
• Hypothyroidism
• Hypoparathyroidism
• Incontinentia pigmenti achromians
• Progeria

If your child has not developed any teeth by the time the child is 9 months old, consult your health care provider.

The health care provider will perform a physical examination, including a detailed examination of the mouth and gums, and ask questions such as:

• In what order did the teeth emerge?
• At what age did other family members develop teeth?
• Are there any other family members that have teeth that never "came in"?
• What other symptoms are also present?

An infant with delayed or absent tooth formation may have other symptoms and signs that, when taken together, define a specific syndrome or condition.

Diagnostic tests are usually not necessary unless a disorder is suspected as the cause. Most often, delayed tooth formation is a normal finding. Occasionally, dental x-rays will be needed.

Strabismus is a disorder in which the eyes do not line up in the same direction when focusing. The condition is more commonly known as "crossed eyes."

Crossed eyes; Esotropia; Exotropia; Squint; Walleye

Strabismus is caused by a lack of coordination between the eyes. As a result, the eyes look in different directions and do not focus at the same time on a single point.

In most cases of strabismus in children, the cause is unknown. In more than half of these cases, the problem is present at or shortly after birth (congenital strabismus).

In children, when the two eyes fail to focus on the same image, the brain may learn to ignore the input from one eye. If this is allowed to continue, the eye that the brain ignores will never see well. This loss of vision is called amblyopia, and it is frequently associated with strabismus.

Some other disorders associated with strabismus in children include:

• Apert syndrome
• Cerebral palsy
• Congenital rubella
• Hemangioma near the eye during infancy
• Incontinentia pigmenti syndrome
• Noonan syndrome
• Prader-Willi syndrome
• Retinopathy of prematurity
• Retinoblastoma
• Traumatic brain injury
• Trisomy 18 (a child has 3 copies of chromosome 18, instead of the normal 2 copies)

Strabismus that develops in adults can be caused by:

• Botulism
• Diabetes (causes a condition known as acquired paralytic strabismus)
• Guillain-Barre syndrome
• Injuries to the eye
• Shellfish poisoning
• Stroke
• Traumatic brain injury
• Vision loss from any eye disease or injury

A family history of strabismus is a risk factor. Farsightedness may be a contributing factor. In addition, any other disease causing vision loss may cause strabismus.

• Crossed eyes
• Double vision
• Eyes that do not align in the same direction
• Uncoordinated eye movements (eyes do not move together)
• Vision loss in one eye, includes a loss of the ability to see in 3-D (loss of depth perception)

A physical examination will include a detailed examination of the eyes. Tests will be done to determine the strength of the eye muscles.

Eye tests include:

• Retinal exam
• Standard ophthalmic exam
• Visual acuity

A neurological examination will also be performed.

Treatment involves strategies to strengthen the weakened muscles and realign the eyes. Glasses and eye muscle exercises may be prescribed.

If the condition is caused by a lazy eye, the doctor may prescribe an eye patch. Some children may need surgery. For more information on treating lazy eye, see: Amblyopia

With early diagnosis and treatment, the problem can usually be corrected. Delayed treatment may lead to permanent vision loss in one eye.

Strabismus requires prompt medical evaluation. Call for an appointment with your health care provider or eye doctor if your child:

• Appears to be cross-eyed
• Complains of double vision
• Has difficulty seeing

Note: Learning difficulties or problems at school can sometimes be due to a child's inability to see the blackboard or reading material.

Hatt SR, Leske DA, Kirgis PA, Bradley EA, Holmes JM. The effects of strabismus on quality of life in adults. Am J Ophthalmol. 2007 Nov;144(5):643-7.