Incontinentia pigmenti (Bloch-Sulzberger)Q82.3

X-linked dominant hereditary neuroectodermal disease of childhood, present at birth or occurring within the first week of life (almost 100%), affecting the skin, nails, hair, teeth and eyes. Initially, an inflammatory skin disease is impressive, which in the later "non-inflammatory stage IV" leaves spatter-like pigmentation and atrophy.

Incidence: 1/50.000 births/year.

X-linked dominant inheritance of mutations of the NF-kappa-B essential modulator gene(IKBKG gene formerly called NEMO gene; gene locus: Xq28). In 64% it is a new mutation. This gene encodes a protein responsible for the regulation of various cytokines, chemokines and adhesion molecules. It is essential for protection against TNF-alpha induced apoptosis. The mutations are compatible with life only if they are present as a genetic mosaic. Mosaics develop most frequently in females in the context of X-linked inactivation. Affected male fetuses usually die intrauterine; rarely, genetic mosaics exist in males due to Klinefelter syndrome, chromatid mutation, or early somatic mutations.

Mainly extremities, lateral trunk areas.

• The disease is phasic and presents at the integument in different clinic, which can be divided into 4 (partly overlapping) stages:
  • Stage 1 (birth to 4th month): Red vesicles, blisters, (eosinophilic) pustules, papules, plaques in a stripe- or girlade-like, sometimes whorled arrangement ( Blaschko lines).
  • Stage 2 (2nd-6th month): Healing of the acute manifestations. Formation of hyperkeratotic, yellow-brownish, verrucous plaques.
  • Stage 3 (7th month - 12th year of life): dirty brown or steel to slate gray, spatter-like, striped or garland-like, also anular patches.
  • Stage 4 (6 years of age to adulthood): Lesions have faded. Formation of hypopigmented, atrophic scars with hair abnormalities (in 50% of cases), alopecia and loss of sweat glands.
• Malformations of other organs:
  • Tooth-jaw( 67- 90% of pat.): Tooth hypoplasia, hypodontia, cone teeth, microdontia, prognathism.
  • Eyes (20-70% of pat.): Strabismus (about 20%), pseudoglioma retinae, corneal and lens opacities, pigmentary dystrophy and retinal detachments, optic atrophy, microphthalmia, blue sclerae, ptosis.
  • CNS (20- 30% of patients) microcephaly, debility, spastic diplegia, seizures (most common neurological symptom intellectual deficits (approx. 10% of patients), ataxia
  • Skeletal (sporadic): hip joint dysplasia, syndactyly
  • Heart (sporadic): Endomyocardial fibrosis, tetralogy of Fallot
  • Nails (sporadic): Dimples, Onychogrypose
• Concomitant:
  • Blood- (stage 1: 35% of pat. Blood eosinophilia may be excessive up to 80% of peripheral leukocytes expressed). Blood eosinophilia reduced in later stages (in stage 4 only in 10% of patients).
  • Tissue eosinophilia

High blood and tissue eosinophilia (blood eosinophilia in about 35% of patients).

Intraepidermal and subcorneal vesicles with abundant eosinophilic cells, acanthotically widened, spongiotically loosened epidermis with single cell cornifications. Stage 3 and 4: considerable accumulation of melanin (pigment incontinence) in the dermis. There in melanophages.

In the inflammatory stage short-term potent glucocorticoids such as prednicarbate (e.g. Dermatop cream). In case of blister formation, moist compresses with antiseptic additives such as potassium permanganate (light pink).

Skin symptoms regress until adulthood, possibly slight hypopigmentation and partial scars. Otherwise depending on the accompanying diseases (especially seizure disorders).

Only in exceptional cases does a recurrence of the inflammatory phases occur in later stages (e.g. infection-associated)

It is recommended to arrange for a genetic examination of the mother!

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