Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)

Overview

Journal J Med Genet

Specialty Genetics

Date 1993 Jan 1

PMID 8423608

Citations 77

Authors

S J Landy

D Donnai

Affiliations

Soon will be listed here.

Citing Articles

Case Report: Diagnosis and treatment of with central nervous system anomalies in one patient.

Li Y, Hong J, Xu S, Zhou T, Xiao X, Yang J Front Pediatr. 2025; 12:1490816.

PMID: 39882206 PMC: 11774900. DOI: 10.3389/fped.2024.1490816.

Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.

Herlin L, Schmidt S, Mogensen T, Sommerlund M Orphanet J Rare Dis. 2024; 19(1):454.

PMID: 39623400 PMC: 11613904. DOI: 10.1186/s13023-024-03480-8.

Melanin Incontinence, Infantile Stroke, and Negative Genetics in a Case of Incontinentia Pigmenti.

Ananthasubramanian S, Chanrakant S, Kumar T, Rajeswarie R, Arunachal Udupi G, Kenchiah R Ann Indian Acad Neurol. 2024; 27(5):571-572.

PMID: 39428919 PMC: 11575877. DOI: 10.4103/aian.aian_364_24.

Case report: Variability in clinical manifestations within a family with incontinentia pigmenti.

Belysheva T, Nasedkina T, Kletskaya I, Volchek D, Barinova I, Semenova V Front Med (Lausanne). 2024; 11:1402577.

PMID: 39086952 PMC: 11288940. DOI: 10.3389/fmed.2024.1402577.

Ectodermal Dysplasia - An Overview and Update.

Dev A, Malhi K, Mahajan R Indian Dermatol Online J. 2024; 15(3):405-414.

PMID: 38845644 PMC: 11152464. DOI: 10.4103/idoj.idoj_599_23.

References

Hartman D . Incontinentia pigmenti associated with subungual tumors. Arch Dermatol. 1966; 94(5):632-5. View

Ormerod A, White M, McKay E, Johnston A . Incontinentia pigmenti in a boy with Klinefelter's syndrome. J Med Genet. 1987; 24(7):439-41. PMC: 1050156. DOI: 10.1136/jmg.24.7.439. View

AGUADE J, Mascaro J, Herrero C, Castel T . [Painful and spontaneously healing subungual dyskeratotic tumors; their relation to incontinentia pigmenti]. Ann Dermatol Syphiligr (Paris). 1973; 100(2):159-68. View

Wiley 3rd H, Frias J . Depigmented lesions in incontinentia pigmenti. A useful diagnostic sign. Am J Dis Child. 1974; 128(4):546-7. DOI: 10.1001/archpedi.1974.02110290116021. View

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Lenz W . Letter: Half chromatid mutations may explain incontinentia pigmenti in males. Am J Hum Genet. 1975; 27(5):690-1. PMC: 1762836. View

CARNEY R . Incontinentia pigmenti. A world statistical analysis. Arch Dermatol. 1976; 112(4):535-42. View

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10.

Moss C, Ince P . Anhidrotic and achromians lesions in incontinentia pigmenti. Br J Dermatol. 1987; 116(6):839-49. DOI: 10.1111/j.1365-2133.1987.tb04903.x. View

11.

Cannizzaro L, Hecht F . Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation. Clin Genet. 1987; 32(1):66-9. DOI: 10.1111/j.1399-0004.1987.tb03326.x. View

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Cohen B . Incontinentia pigmenti. Neurol Clin. 1987; 5(3):361-77. View

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Spallone A . Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family. Br J Ophthalmol. 1987; 71(8):629-34. PMC: 1041246. DOI: 10.1136/bjo.71.8.629. View

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Brown C . Incontinentia pigmenti: the development of pseudoglioma. Br J Ophthalmol. 1988; 72(6):452-5. PMC: 1041481. DOI: 10.1136/bjo.72.6.452. View

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Sefiani A, Sinnett D, Abel L, Heuertz S, Craig I, Fraser N . Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11. Hum Genet. 1988; 80(3):282-6. DOI: 10.1007/BF01790098. View

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MIGEON B, Axelman J, de Beur S, Valle D, Mitchell G, Rosenbaum K . Selection against lethal alleles in females heterozygous for incontinentia pigmenti. Am J Hum Genet. 1989; 44(1):100-6. PMC: 1715454. View

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Donnai D, Read A, McKeown C, Andrews T . Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet. 1988; 25(12):809-18. PMC: 1051608. DOI: 10.1136/jmg.25.12.809. View

18.

Sefiani A, Abel L, Heuertz S, Sinnett D, Lavergne L, Labuda D . The gene for incontinentia pigmenti is assigned to Xq28. Genomics. 1989; 4(3):427-9. DOI: 10.1016/0888-7543(89)90350-9. View

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Thomas I, Frias J, Cantu E, Lafer C, Flannery D, Graham Jr J . Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet. 1989; 45(2):193-205. PMC: 1683341. View

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Ritter C, STEELE M, Wenger S, Cohen B . Chromosome mosaicism in hypomelanosis of Ito. Am J Med Genet. 1990; 35(1):14-7. DOI: 10.1002/ajmg.1320350104. View