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Incontinentia pigmenti

Das Bloch-Sulzberger-Syndrom ist eine x-chromosomal dominante Erkrankung, die durch Mutationen im IKBKG-Gen hervorgerufen wird. Bei den hemizygot betroffenen Knaben führt sie frühzeitig manchmal sogar schon pränatal zum Tode. Die ektodermalen Veränderungen finden sich entlang der Blaschko-Linien und zeigen sich vor allem als bullöses Exanthem und verruköse Plaques, die im weiteren Verlauf eine Hyperpigmentation aufweisen. Weiterhin finden sich Zahnanomalien, Alopezieund Nageldystrophien. Auch Veränderungen des ZNS und der Retina können vorkommen.

Gliederung

Erbliche Hauterkrankungen
Autoinflammation mit Arthritis und Dyskeratose
Chronische atypische neutrophile Dermatose mit Lipodystrophie und erhöhter Temperatur
Dyschromatosis symmetrica hereditaria
Ektodermale Dysplasie mit Immundefekt
Epidermolysis bullosa
Familiäre Acne inversa 1
Griscelli-Syndrom Typ 2
Hermansky-Pudlak-Syndrome 2
Incontinentia pigmenti
IKBKG
Interleukin 36-Rezeptor-Antagonist-Mangel
Interstitielle Lungenerkrankung mit nephrotischem Syndrom und Epidemiolysis bullosa
Keratosis linearis - Ichthyosis congenita - sklerosierendes Keratoderm
Neigung zu Vitiligo-assoziierter multipler Autoimmunerkrankung 1
Neonatale enzündliche Haut- und Darmerkrankung Typ 1
Nephropathie mit prätibialer epidermolysis bullosa und Schwerhörigkeit
Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom
Piebaldismus
Psoriasis
Pyoderma gangraenosum, Acne und Hidradenitis suppurativa (PASH)
Pyogene Arthritis - Pyoderma gangraenosum - Akne - Syndrom

Referenzen:

1.

None (1998) Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue.

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2.

Hecht F et al. (1982) Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model.

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3.

Kurczynski TW et al. (1982) Studies of a family with incontinentia pigmenti variably expressed in both sexes.

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4.

Wiklund DA et al. (1980) Incontinentia pigmenti. A four-generation study.

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5.

Smahi A et al. (1994) The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

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6.

None (1994) Incontinentia pigmenti nomenclature.

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7.

Traupe H et al. (1994) Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males.

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8.

Landy SJ et al. (1993) Incontinentia pigmenti (Bloch-Sulzberger syndrome).

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9.

Pettenati MJ et al. (1993) Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases.

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10.

Pfau A et al. (1995) Recurrent inflammation in incontinentia pigmenti of a seven-year-old child.

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11.

Munné S et al. (1996) Case report: unusually high rates of aneuploid embryos in a 28-year old woman with incontinentia pigmenti.

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12.

Kirchman TT et al. (1995) Gonadal mosaicism for incontinentia pigmenti in a healthy male.

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13.

Parrish JE et al. (1996) Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

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14.

Jewett T et al. (1997) A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X;autosome translocation.

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15.

Jouet M et al. () Linkage analysis in 16 families with incontinentia pigmenti.

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16.

Roberts JL et al. (1998) Incontinentia pigmenti in a newborn male infant with DNA confirmation.

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17.

Devriendt K et al. (1998) Second trimester miscarriage of a male fetus with incontinentia pigmenti.

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18.

Liu XY et al. (1999) The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.

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19.

Heiss NS et al. (1999) Mutation analysis of the DKC1 gene in incontinentia pigmenti.

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20.

Aradhya S et al. (2000) Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.

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21.

Aradhya S et al. (2000) Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.

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22.

Mansour S et al. (2001) Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.

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23.

Bodak N et al. (2003) Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism.

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24.

None (1960) [On the problem of heredity in Bloch-Siemens incontinentia pigmenti].

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25.

None (1961) [On the genetics of incontinentia pigmenti].

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26.

None (1952) The Bloch-Sulzberger syndrome (incontinentia pigmenti).

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27.

O'Doherty M et al. (2011) Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature.

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28.

Minić S et al. (2014) Incontinentia pigmenti diagnostic criteria update.

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29.

Basilius J et al. (2015) Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti.

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30.

Mariath LM et al. (2018) Intrafamilial clinical variability in four families with incontinentia pigmenti.

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31.

None (1984) Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes.

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32.

Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

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33.

Rudolph D et al. (2000) Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice.

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34.

Smahi A et al. (2000) Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

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35.

Aradhya S et al. (2001) A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

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36.

Gartler SM et al. (1975) Half chromatid mutations: transmission in humans?

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37.

Kunze J et al. (1977) Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger.

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38.

None (1975) Letter: Half chromatid mutations may explain incontinentia pigmenti in males.

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39.

Bargman HB et al. (1975) Incontinentia pigmenti in a 21-year-old man.

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40.

None (1976) Incontinentia pigmenti. A world statistical analysis.

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41.

Sefiani A et al. (1991) Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.

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42.

Gorski JL et al. (1991) Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints.

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43.

García-Dorado J et al. (1990) Incontinentia pigmenti: XXY male with a family history.

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44.

Migeon BR et al. (1989) Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

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45.

Sefiani A et al. (1989) The gene for incontinentia pigmenti is assigned to Xq28.

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46.

Harris A et al. (1988) The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization.

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47.

None (1987) Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family.

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48.

Sefiani A et al. (1988) Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.

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49.

Pallotta R et al. (1988) Chromosomal instability in incontinentia pigmenti: study of four families.

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50.

Ormerod AD et al. (1987) Incontinentia pigmenti in a boy with Klinefelter's syndrome.

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51.

None (1987) Tentative assignment of hypomelanosis of Ito to 9q33----qter.

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52.

Gilgenkrantz S et al. (1985) Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

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53.

Kajii T et al. (1985) Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma.

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54.

Wieacker P et al. (1985) X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance.

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55.

Hodgson SV et al. (1985) Two cases of X/autosome translocation in females with incontinentia pigmenti.

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56.

Carney RG et al. (1970) Incontinentia pigmenti.

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57.

Reed WB et al. (1967) Incontinentia Pigmenti.

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58.

Hecht F et al. (1983) The half chromatid mutation model and bidirectional mutation in incontinentia pigmenti.

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59.

Sommer A et al. (1984) Incontinentia pigmenti in a father and his daughter.

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60.

Wikipedia Artikel

Wikipedia DE (Bloch-Sulzberger-Syndrom) external link
Update: 14. August 2020
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