INCONTINENTIA PIGMENTI
DEFINITION:
A neurocutaneous syndrome characterized by cutaneous, neurologic
(neonatal seizures), and ocular manifestations.
EPIDEMIOLOGY:
- incidence: over 700 cases reported
- age of onset:
- risk factors:
- familial - x-linked dominant
- chrom.#: Xq28 (familial type); Xp11.21-cen. (IP1)
- gene: ?
- F > M (20:1)
- lethal in males
PATHOGENESIS:
- first described by M. Bardach in 1925
- also called Bloch-Sulzberger Syndrome or Disease
- is considered a disorder of the ectoderm involving multiple
systems (i.e., skin, eyes, teeth, hair, bone, nervous system)
CLINICAL FEATURES:
- begins at birth or within the first few weeks of life
- linear, erythematous (red) streaks with plaques of
vesicles which are replaced by bullae (blisters)
- lesions appear on the limbs and around the trunk
- this phase usually resolves by 4 months of age but
blisters may develop during fevers throughout childhood
2. Verrucous Phase
- replaces the vesicular phase at about 4 months of age
- the blisters of the vesicular phase dry and become
hyperkeratotic resulting in the formation of warty (verrucous)
plaques
- the plaques usually appear on the distal limbs, dorsum of
hands and feet, and the scalp with the face and trunk usually
spared
- usually resolves by 10-12 months of age but may persist
for years
3. Pigmentary Phase
- the hallmark of IP
- usually develops after the verrucous phase but may be
present at birth or begin to appear within the first few
months of life
- hyperpigmented lesions appear as macular whorls, flecks,
reticulated patches, splashes, and linear streaks
- hyperpigmentation appears on the trunk, axillae, and groin
and may involve areas not affected in the first two phases
- this phase usually persists throughout childhood, with the
lesions beginning to fade in adolescence and often
disappearing by age 16
- some lesions may persist (especially those in the groin)
4. Hypopigmentary Phase
- usually develops after the pigmentary phase but may also
occur during the 3rd phase
- pale, hairless, and anhidrotic streaks or patches
- these hypopigmented lesions usually appear on the flexor
surface of the lower limbs but may also occur on the trunk and
arms
2. Neurologic Manifestations (33%)
- neonatal seizures
- developmental delay (motor and cognitive)
- hemiparesis, spasticity, and/or paralysis
- microcephaly
- mental retardation (in about 10% of patients)
3. Ocular Manifestations (>30%)
- microphthalmus, strabismus, cataracts
- vascular abnormalities of the retina
- neovascularization, retinal ischemia, bleeding,
retrolental fibroplasia, retinal detachment
- retrolenticular masses, exudative chorioretinitis, optic
nerve atrophy, ureitis, keratitis (inflammation of the cornea)
- refractive errors, visual impairment, blindness (although
about 90% of patients have normal vision)
4. Dental (50-80%)
- delayed eruption
- late dentition, hypodontia, partial anodontia
- conical teeth
- impaction
5. Others
- patchy or diffuse
- hair may be thin and sparse and/or lusterless, wiry, and
coarse
2. Nail Dystrophy (40%)
3. Musculoskeletal
- short stature, shortened arms and legs, hemiatrophy,
syndactyly, kyphoscoliosis
INVESTIGATIONS:
- elevated IgE, eosinophilia
- defective neutrophil chemotaxis
2. Histopathology
- epidermal edema, intraepidermal vesicles filled with
eosinophils
2. Verrucous Lesions
- epidermal hyperplasia, hyperkeratosis, papillomatosis
3. Pigmentary Lesions
- degeneration and loss of epidermal basal cells and melanin
in the melanophages of the upper dermis
MANAGEMENT:
- no treatment for underlying disorder
- multidisciplinary approach
- Paediatrics, Neurology, OT, PT, Dentistry, Dermatology
- Ophthalmologic evaluation within the first few months of
life
2. Prognosis
ADDITIONAL REFERENCES:
INTERNET LINKS:
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