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  Laura M Richter
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  Email: ipif@ipif.org

  Susanne Bross Emmerich
  Founder

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  Incontinentia Pigmenti International Foundation



PHYSICAL FINDINGS

SKIN
The earliest and most striking diagnostic features in IP occur in the skin as progressive rashes. It has four stages which may overlap.

The first phase is the erythematous (red) and vesicular (blister-like) stage which appears in infancy and is often present in the newborn. This consists of redness, blisters, and boils. It is the initial manifestation in 90% of patients.. It may last from a few weeks to a few months. The extremities and the scalp are most often affected, but the rash can be present on any body part. This rash may recur at times in the first few months of life, and rarely ever later. The rash may be confused with the skin rash seen in other infectious diseases including chicken pox, herpes, impetigo, or scabies. However, virus is never found in the blisters each of these diseases is more common than IP and can be fatal in infants, so an infant may be treated for an infection before the diagnosis of IP is made. Knowledge of a family history of IP will aid in efficient diagnosis. As serious as it looks, the rash does not seem to be painful, although clothing may irritate the blisters. Secondary infection from common skin bacteria should be treated if it occurs.

The second phase, which may overlap with the first, are blisters which develop a raised verrucous (wart-like) surface. The lesions look like pustules. There can be thick crusts or scabs with healing and areas of increased pigmentation (darkened skin). It may be present at birth (implying that the vesicular stage took place in the womb), but it usually evolves after the first stage in 70% of patients. The extremities are involved almost exclusively. This stage typically lasts months, but rarely as long as a year.

The third phase is the hyperpigmented stage in which the skin is darkened in a swirled pattern often described as a “marble cake” appearance. In some patients, the adjacent areas ultimately thin and widen leaving streaky hypopigmentation. It may be present at birth in 5-10% of patients but usually appears between 6 and 12 months of life. This may or may not correspond to the areas that were involved in stages I and II. The heavy pigmentation tends to fade with age in most affected individuals.

The fourth stage is the atrophic (scarred) stage. These scars often are present before the hyperpigmentation has faded and are seen in adolescents and adults as pale, hairless patches or streaks, also referred to as hypopigmentation. These are most easily seen when they are on the calf or in the scalp. Once most patients reach adulthood (late teen and beyond), the skin changes may have faded and may not be visible to the casual observer.

HAIR
About 50% of women with IP have minor abnormalities of their hair, usually a loss or lack of hair (alopecia) on the crown of the head. The alopecia is probably caused by scarring from the rash, but this is not proven. As with other children, sparseness of hair as a child does not correlate with the quantity of hair as an adult. Hair color is normal, but the hair strands themselves may be coarse, wiry, and "lusterless". For the most part, individuals do not have substantial problems with their hair.

TEETH
More than 80% of IP patients have abnormalities of their teeth, and these can be useful in making the diagnosis of IP. The primary (baby) teeth may be delayed. Both the baby and adult teeth may be affected. Some teeth may be missing altogether or when they do erupt, the teeth may be unusually shaped, typically peg-like or cone-shaped. The quality of the teeth and the enamel covering them is normal. Few individuals have serious dental problems, and most can be helped with cosmetic dentistry (orthodontics or prosthodontics) as necessary.

Adult teeth can be affected even when baby teeth have been fairly normal. Unfortunately, issues with baby teeth do not predict the course of adult tooth development.

NAILS
The nails of the hands and feet may be involved. That involvement is usually mild and transient but can recur. The nails may be ridged, pitted, thickened, or completely disrupted. If these signs are present, they typically involve most or all the finger and toenails, not just one or two nails. Benign tumors have been described to grow under the nail bed and correspond with the blistering skin lesions seen in stage II. In extreme cases, these growths can be painful and may be associated with deformities of the finger bones.

EYES
The majority of IP patients have normal vision. Some problems, like near- and far-sightedness, are common in IP individuals, but these are probably no more frequent than in the general population without IP. The classical eye finding in IP is an abnormality in the growth of blood vessels in the inside of the eye (the retina). Growth of abnormal blood vessels, and the associated scarring can cause loss of vision but may be treated if recognized early enough.

For this reason, babies diagnosed with IP should have an eye examination immediately after birth and be followed by an ophthalmologist closely during the first few years of life. Careful examination by a pediatric ophthalmologist or retinal disease specialist should be done 3-4 times in the first year, then every 6 months until age 4 years, then annually. Please go to Eye Examination of Children Affected with IP for a detailed explanation of how to examine the eyes of an IP patient.

Rare eye abnormalities have included small eye (microphthalmos), cataract, and degeneration of the optic nerve (optic atrophy). Permanent visual deficiency or total blindness may occur.

NERVOUS SYSTEM
Although most individuals are neurologically normal, severe neurologic complications can occur as a consequence of IP. Abnormalities of the nervous system can include Seizures (epilepsy”) occurring in infancy are an indication that the nervous system has not been spared. Paralysis, developmental and mental retardation, and small head size in infancy are an indication that the nervous system has not been spared. Careful studies of the frequencies of these symptoms in individuals with confirmed IP are underway. Currently, it is unknown how common neurological problems are in IP. The discovery of NEMO mutations in IP has allowed more patients to be identified, leading to the appreciation that IP is more common than previously recognized.

While this is not enough information upon which to base strong conclusions, it does suggest that the vast majority of individuals with IP will be neurologically normal. There is increasing evidence that, if problems are going to arise, they will within the first year of life. Seizures or other complications should be treated as in any other infant, but these problems do not need special or unusual managements. The most current study released and available is Learning Disabilities Are a Fundamental Hallmark of the Disease

BREAST
Developmental abnormalities of the breast range from a missing breast, extra nipples, small or asymmetric size of breast development after puberty or abnormalities in nipple pigmentation. No consistent pattern has been observed.

Ectodermal Dysplasia
Additional Support, Guidance and Help for the Ectodermal Dysplasia type effects of IP named above including Heat Intolerance can be found at the below links and on Facebook
The Ectodermal Dysplasia Society (in England, it's international)
The National Foundation for Ectodermal Dysplasia (NFED)

ipif Links
Eye Examination of Children Affected with IP
Learning Disabilities Are a Fundamental Hallmark of the Disease


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