Incontinentia pigmenti: Variable disease expression within an affected family

Journal of the European Academy of Dermatology and Venereology

Volumn 11, Issue 2, 1998, Pages 173-176

  Basarab, T ^a   Dunnill, M G S ^b   Munn, S E ^a   Russell Jones, R ^a  

^a EALING HOSPITAL NHS TRUST   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Bloch Sulzberger disease; Genodermatosis; Incontinentia pigmenti; Vesiculobullous disease

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; FAMILY; FEMALE; GENETIC COUNSELING; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INCONTINENTIA PIGMENTI; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN BIOPSY;

FAMILY; FEMALE; HUMANS; INCONTINENTIA PIGMENTI; INFANT, NEWBORN; LEG DERMATOSES;

EID: 0031689261     PISSN: 09269959     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0926-9959(98)00055-5     Document Type: Article

References (18)

1. Bloch B. Eigentumliche bischer nicht beschriebene pigmentaffektion (incontinentia pigmenti). Schweiz Med Wochenschr 1926;56:404.
2. Sulzberger MB. Uber eine bisher nicht beschriebene congenitale pigmentanomalie (incontinentia pigmenti). Arch Dermatol Syph 1928;154:19-32.
3. Garrod AE. Peculiar pigmentation of the skin of an infant. Trans Clin Soc Lond 1906;39:216.
4. Carney RG. Incontinentia pigmenti: a world statistical analysis. Arch Dermatol 1976;112:535-542.
5. el-Benhawi MO, George WM. Incontinentia pigmenti: a review. Cutis 1988;41:259-262.
6. Happle R. Lyonization and the lines of Blaschko. Hum Genet 1985;70:200-206.
7. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53-59.
8. Prendiville JS, Gorski JL, Stein CK, et al. Incontinentia pigmenti in a male infant with Klinfelter syndrome. J Am Acad Dermatol 1989;20:937-940.
9. Lenz W. Half chromatid mutations may explain incontinentia pigmenti in males. Am J Hum Genet 1975;27:690-691.
10. Langenbeck U. Transmission of incontinentia pigmenti from mother to son is consistent with a half chromatid back-mutation (reversion) model. Clin Genet 1982;22:290-291.
11. Traupe H, Vehring K. Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males. Am J Med Genet 1994;49:397-398.
12. Smahi A, Hyden-Granskog C, Peterlin B, et al. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Mol Genet 1994;3:273-278.
13. Cannizzaro LA, Hecht F. Gene for incontinentia pigmenti maps to band Xp11 with an (X,10) (p11,q22) translocation. Clin Genet 1987;32:66-69.
14. Hodgson SV, Neville B, Jones RW, et al. Two cases of X autosome translocation in females with incontinentia pigmenti. Hum Genet 1985;71:231-234.
15. Sefani A, Sinnett D, Abel L, et al. Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11. Hum Genet 1988;80:282-286.
16. Sybert V. Incontinentia pigmenti nomenclature (letter). Am J Hum Genet 1994;55:209-211.
17. Eady RAJ. Fetoscopy and fetal skin biopsy for prenatal diagnosis of genetic skin disorders. Seminars in Dermatology 1988;7:2-8.
18. Eady RAJ, Holbrook KA, Blanchet-Bardon C, et al. Chairs summary: prenatal diagnosis of skin diseases. In: Burgdorf WHC, Katz SI, editors. Dermatology: Progress and Perspective, Proceedings of the 18th World Congress of Dermatology. New York: Parthenon, 1992:1159-1165.