Incontinentia pigmenti (Bloch-Sulzberger) Q82.3

Authors: Prof. Dr. med. Peter Altmeyer, Dr. med. Stephan Traidl

All authors of this article

Last updated on: 28.07.2022

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Synonym(s)

Bloch-Sulzberg disease; Bloch-Sulzberger Syndrome; incontinentia pigmenti; Melanoblastosis Bloch-Sulzberger; Melanoblastosis cutis linearis sive systematisata (Carol und Bour); melanosis corii degenerativa (Siemens); Pigment dermatosis Siemens-Bloch; Poikilodermy Bloch-Sulzberger; systematic nevus pigmentosus

History
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Garrod, 1906; Bloch, 1926; Sulzberger, 1927

Definition
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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.

Occurrence/Epidemiology
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Incidence: 1/50.000 births/year.

Etiopathogenesis
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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.

Manifestation
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Especially in girls (95%), occurring in utero or immediately after birth.

Localization
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Mainly extremities, lateral trunk areas.

Clinical features
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  • The disease is phasic and presents at the integument in different clinics, 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 patches arranged in stripes or garlands.
    • 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.): Dental 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 (about 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 pat.)
    • Tissue eosinophilia

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

Histology
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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.

External therapy
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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).

Internal therapy
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In the case of a pronounced inflammatory reaction glucocorticoids such as prednisolone (e.g. Decortin H) 0.5-1 mg/kg bw/day p.o., rapid balancing. Monitoring for secondary infections.

Progression/forecast
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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)

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

Literature
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  1. Bardaro T et al (2003) Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. Hum Mutation 21: 8-11
  2. Berlin AL et al (2002) Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 47: 169-187
  3. Bloch B (1926) Peculiar, previously undescribed pigment affection (Incontinentia pigmenti). Switzerland med Wschr 56: 404-405
  4. Carney R (1976) Incontinentia Pigmenti. A world statistical analysis. Arch Dermatol 112: 535-542
  5. Conte MI et al ()2014) Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutation 35:165-177
  6. Garrod AE (1906) Peculiar pigmentation of the skin in an infant. Trans Clin Soc London 39: 216
  7. Happle R (2003) A fresh look at incontinentia pigmenti. Arch Dermatol 139: 1206-1208
  8. Kleszky M et al (1985) Incontinentia pigmenti Bloch-Sulzberger. Dermatol Mschr 171: 181-122
  9. Landy SJ, Donnai D (1993) Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 30: 53-59
  10. Phan TA et al (2005) Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clinical dermatology 30: 474-480
  11. Schaller J et al (1992) Disseminated beginning Incontinentia pigmenti Bloch-Sulzberger. Dermatologist 43: 383-385
  12. Sulzberger MB (1927) About a congenital pigment anomaly (Incontinentia pigmenti) not described so far. Arch derm syph 154: 19-32
  13. Yang Yet al (2014)Neonatal incontinentia pigmenti: Six cases and a literature review. Exp Ther Med 8:1797-1806

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