Incontinentia pigmenti
| Incontinentia pigmenti | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q82.3 |
| ICD-9-CM | 757.33 |
| OMIM | 308300 |
| DiseasesDB | 29600 |
| MedlinePlus | 001583 |
| eMedicine | article/1114205 article/1176285 |
| MeSH | D007184 |
| GeneReviews | |
| Orphanet | 464 |
Incontinentia pigmenti (IP, also known as "Bloch–Siemens syndrome," "Bloch–Sulzberger disease," "Bloch–Sulzberger syndrome" "melanoblastosis cutis," and "nevus pigmentosus systematicus") is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system. It is named due to its microscopic appearance.
The skin lesions evolve through characteristic stages:
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 nipples.
Skeletal and structural anomalies can occur in approximately 14% of patients, including:
IP is inherited in an X-linked dominant manner. IP is lethal in most, but not all, males. A female with IP may have inherited the IKBKG mutation from either parent or have a new gene mutation. Parents may either be clinically affected or have germline mosaicism. Affected women have a 50% risk of transmitting the mutant IKBKG allele at conception; however, most affected male conceptuses miscarry. Thus, the effective ratio for liveborn children from a mother carrying the mutation is 33% unaffected females, 33% affected females, and 33% unaffected males. Genetic counseling, prenatal testing, and preimplantation genetic diagnosis is available.
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