Incontinentia Pigmenti

Incontinentia Pigmenti

Incontinentia Pigmenti (IP) is a genetic disorder that affects the skin, hair, teeth, and nails. It is also known as Bloch-Sulzberger disease[1]:548, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus.

The skin lesions evolve through characteristic stages:

*blistering (from birth to about four months of age),
*a wart-like rash (for several months),
*swirling macular hyperpigmentation (from about six months of age into adulthood), followed by
*linear hypopigmentation.
Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Some patients have retinal vascular abnormalities predisposing to retinal detachment in early childhood. Cognitive delays/mental retardation are occasionally seen.

Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration sometimes fades with age.

Neurological problems can include: cerebral atrophy, the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, mental retardation, and seizures. They are also likely to have visual problems, which can include: crossed eyes, cataracts, and severe visual loss. Dental problems are common, and include missing or peg-shaped teeth – patients with IP often keep milk teeth into adult life.

Breast anomalies can occur in 1% of patients; anomalies can include hypoplasia and supernumerary.

Skeletal and structural anomalies can occur in approximately 14% of patients, including: Somatic asymmetry Hemivertebrae Scoliosis Spina bifida Syndactyly Acheiria (congential absence of the hands – note: other limbs may be affected) Ear anomalies Extra ribs Skull deformities Primary pulmonary hypertension Cardiopulmonary failure

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