Unilateral Linear Hyperpigmentation of the Skin with Ipsilateral Sectorial Hyperpigmentation of the Retina

American Journal of Medical Genetics

Volumn 126 A, Issue 1, 2004, Pages 89-92

  Meyer, Carsten H ^a   Freyschmidt Paul, Pia ^a   Happle, Rudolf ^a   Kroll, Peter ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

Bear tracks; Embryogenesis; Grouped congenital hypertrophy of the retinal pigment epithelium (CHRPE); Lines of Blaschko; Pigmentary mosaicism of the hyper pigmented type; Postzygotic mutation

Indexed keywords

ARTICLE; CASE REPORT; CAUCASIAN; CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENT EPITHELIUM; EYE; GENE MUTATION; HUMAN; HYPERPIGMENTATION; HYPOTHESIS; INFANT; MALE; MOSAICISM; OPTIC DISK; PATHOGENESIS; PIGMENT DISORDER; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DISEASE; SKIN PIGMENTATION; ZYGOTE;

EID: 1842530018     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20483     Document Type: Article

References (37)

1. Amon M, Menapace R, Kirnbauer R. 1990. Ocular symptomatology in familial hypomelanosis of Ito. Ophthalmologica 200:1-6.
2. Born G, Grützner P, Henninger H. 1976. Evidenz für eine Mosaikstruktur der Netzhaut bei Konduktorinnen für Dichromasie. Humangenetik 32:189-196.
3. Buettner H. 1975. Congenital hypertrophy of the pigment epithelium. Am J Ophthalmol 79:177-189.
4. Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Boker T, Augustin A, Kadmon M, Moslein G, Thomas G. 1995. Familial adenomatous polyposis: Desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 4:337-340.
5. de Jong PT, Delleman JW. 1988. Familial grouped pigmentation of the retinal pigment epithelium. Br J Ophthalmol 72:439-441.
6. Fuhrmann C, Bopp S, Laqua H. 1992. Congenital grouped albinotic spots: A rare anomaly of the retinal pigment epithelium. Ger J Ophthalmol 1:103-104.
7. Gardner EJ, Richard RC. 1950. Cancer of the lower digestive tract in one family. Am J Hum Genet 2:41-48.
8. Happle R. 1985. Lyonization and the lines of Blaschko. Hum Genet 10:200-206.
9. Happle R. 1993. Mosaicism in human skin: Understanding the patterns and mechanisms. Arch Dermatol 129:1460-1470.
10. Happle R. 1999. Poland anomaly may be explained as paradominant trait. Am J Med Genet 87:364-365.
11. Happle R. 2002. New aspects of cutaneous mosaicism. J Dermatol 29:681-692.
12. Happle R, Küchle HJ. 1983. Sectorial cataract: A possible example of lyonisation. Lancet 2:919-920.
13. Hoeg N. 1911. Die gruppierte Pigmentierung des Augenhintergrundes. Klin Monatsbl Augenheilkd 49:49-77.
14. Jaenisch R. 1985. Mammalian neural crest cells participate in normal embryonic development on microinjection into post-implantation mouse embryos. Nature 318:181-183.
15. Koniszewski G, Rott HD. 1985. The Lyon-effect in the lens: Ocular findings in carrier women for X-linked congenital cataract and Lowe's syndrome. Klin Monatsbl Augenheilkd 187:525-528.
16. Küster W, König A. 1999. Hypomelanosis of Ito: No entity, but a cutaneous skin of mosaicism. Am J Med Genet 85:346-350.
17. Lang G, Rott HD, Pfeiffer RA. 1990. X-linked ocular albinism: Characteristic pattern of affection in female carriers. Ophthalmic Pediatr 11:265-271.
18. Laqua H, Wessing A. 1979. Congenital retino-pigment epithelial malformation, previously described as hamartoma. Am J Ophthalmol 87:34-42.
19. Leber T. 1916. Die Krankheiten der Netzhaut. In: Graefe A, Saemisch T, Hess C, editors. Handbuch der gesamten augenheilkunde. Leipzig: Engelmann, Vol. 7. pp 2041-2044.
20. Lyon MF. 1962. Sex chromatin and gene action in the mammilian X-chromosome. Am J Hum Genet 14:135-148.
21. Mann WA. 1932. Congenital grouped pigmentation of the retina. Arch Ophthalmol 8:66-71.
22. Mauthner L. 1868. Lehrbuch der Ophthalmoskopie. Wien Tendler Kapitel 5:388.
23. Meyer CH, Becker R, Schmidt JC, Kroll P. 2002. Wann sind kongenitale Hypertrophien des retinalen Pigmentepithels (CHRPE) mit dem Gardner-Syndrom assoziiert? Eine Ubersicht mit klinischen beispielen. Klin Monatsbl Augenheilkd 219:644-648.
24. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P. 1991. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253:665-669.
25. Parke JT, Riccardi VM, Lewis RA, Ferrell RE. 1984. A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. Am J Med Genet 17:585-595.
26. Perera CA. 1939. Congenital grouped pigmentation of the retina. Arch Ophthalmol 21:108-110.
27. Regillo CD, Eagle RC, Shields JA, Shields CL, Arbizo VV. 1993. Histopathologic findings in congenital grouped pigmentation of the retina. Ophthalmology 100:400-405.
28. Renardel de Lavalette VW, Cruysberg JR, Deutman AF. 1991. Familial congenital grouped pigmentation of the retina. Am J Ophthalmol 112:406-409.
29. Rott HD, Koniszewski G. 1987. The analogy of Blaschko lines in the eye. J Genet Hum 35:19-27.
30. Rott HD, Rix R. 1984. Fundus changes in a carrier women for X-linked ocular albinism: A proof of Lyon's hypothesis in man. Klin Monatsbl Augenheilkd 184:128-129.
31. Rott HD, Lang G, Pfeiffer RA. 1990. Hypomelanosis of Ito (incontinentia pigmenti achromians): Ophthalmic evidence for somatic mosaicism. Ophthalmic Pediatr 11:273-279.
32. Ruggieri M, Huson SM. 2001. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 56:1433-1443.
33. Shields JA, Mark OM, Tso M. 1975. Congenital grouped pigmentations of the retina. Arch Ophthalmol 93:1153-1155.
34. Shields JA, Shields CL, Shah PG, Pastore DJ, Imperiale SM. 1992. Lack of association among typical congenital hypertrophy of the pigment epithelium, adenomatous polyposis, and Gardner syndrome. Ophthalmology 99:1709-1713.
35. Tower P. 1948. Congenital grouped pigmentation of the retina. Arch Ophthalmol 39:536-541.
36. Traboulsi EI, Krush AJ, Gardner EJ, Booker SV, Offerhaus GJ, Yardley JH, Hamilton SR, Luk GD, Giardiello FM, Welsh SB. 1987. Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. New Eng J Med 316:661-667.
37. Traupe H. 1999. Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko. Am J Med Genet 85:324-329.