HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
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.
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Occurrence/EpidemiologyThis section has been translated automatically.
Incidence: 1/50.000 births/year.
EtiopathogenesisThis section has been translated automatically.
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.
ManifestationThis section has been translated automatically.
LocalizationThis section has been translated automatically.
Mainly extremities, lateral trunk areas.
Clinical featuresThis section has been translated automatically.
- 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
- 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
LaboratoryThis section has been translated automatically.
High blood and tissue eosinophilia (blood eosinophilia in about 35% of patients).
HistologyThis section has been translated automatically.
Differential diagnosisThis section has been translated automatically.
External therapyThis section has been translated automatically.
Internal therapyThis section has been translated automatically.
Progression/forecastThis section has been translated automatically.
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)
ProphylaxisThis section has been translated automatically.
It is recommended to arrange for a genetic examination of the mother!
LiteratureThis section has been translated automatically.
- 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
- Berlin AL et al (2002) Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 47: 169-187
- Bloch B (1926) Peculiar, previously undescribed pigment affection (Incontinentia pigmenti). Switzerland med Wschr 56: 404-405
- Carney R (1976) Incontinentia Pigmenti. A world statistical analysis. Arch Dermatol 112: 535-542
- 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
- Garrod AE (1906) Peculiar pigmentation of the skin in an infant. Trans Clin Soc London 39: 216
- Happle R (2003) A fresh look at incontinentia pigmenti. Arch Dermatol 139: 1206-1208
- Kleszky M et al (1985) Incontinentia pigmenti Bloch-Sulzberger. Dermatol Mschr 171: 181-122
- Landy SJ, Donnai D (1993) Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 30: 53-59
- 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
- Schaller J et al (1992) Disseminated beginning Incontinentia pigmenti Bloch-Sulzberger. Dermatologist 43: 383-385
- Sulzberger MB (1927) About a congenital pigment anomaly (Incontinentia pigmenti) not described so far. Arch derm syph 154: 19-32
- Yang Yet al (2014)Neonatal incontinentia pigmenti: Six cases and a literature review. Exp Ther Med 8:1797-1806
Incoming links (22)Berlin syndrome; Blaschko lines; Bloch-sulzberger syndrome; Eosinophilic pustular folliculitis; Erythema dyschromicum perstans; Focal dermal hypoplasia; Hypermelanosis nevoid, striped and vertebral; Hypomelanosis ito; IKBKG Gene; Linear whorled hypermelanosis; ... Show all
Outgoing links (21)Acanthosis; Apoptosis; Blaschko lines; Cytokines; Dermatitis herpetiformis; Epidermolysis bullosa hereditaria (overview); Glucocorticosteroids; IKBKG Gene; Klinefelter's syndrome; Lichen planus classic type; ... Show all
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