Phacomatosis pigmentokeratotica is a pseudodidymosis

Journal of Investigative Dermatology

Volumn 133, Issue 8, 2013, Pages 1923-1925

  Happle, Rudolf ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DROSOPHILA MELANOGASTER; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; MULTIPOTENT STEM CELL; NEVUS; NEVUS FLAMMEUS; NONHUMAN; ONCOGENE H RAS; PHACOMATOSIS PIGMENTOKERATOTICA; PHAKOMATOSIS; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; REVIEW; SEBACEOUS NEVUS;

EID: 84880389689     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.74     Document Type: Note

References (20)

1. Boente MC, Pizzi de ParraN, Larralde de Luna M et al. (2000) Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting. Eur J Dermatol 10:190-4
2. Bouthors J, Vantyghem MC, Manouvrier-Hanu S et al. (2006) Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. Br J Dermatol 155:225-6 (Pubitemid 43876430)
3. Graf U, Würgler FE, Katz AJ et al. (1984) Somatic mutation and recombination test in Drosophila melanogaster. Environ Mutagen 6:153-88 (Pubitemid 14118501)
4. Griffin R, Sustar A, Bonvin M et al. (2009) The twin spot generator for differential Drosophila lineage analysis. Nat Methods 6:600-2
5. Groesser L, Herschberger E, Ruetten A et al. (2012) Postzygotic HRAS and KRAS mutations cause nevus sebaceus and Schimmelpenning syndrome. Nat Genet 44:783-7
6. Groesser L, Herschberger E, Sagrera A et al. (2013) Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a pluripotent progenitor cell. J Invest Dermatol 133:1998-2003
7. Gruson LM, Orlow SJ, Schaffer JV (2006) Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. J Am Acad Dermatol 55(2 Suppl):S16-20
8. Happle R (1999) Loss of heterozygosity in human skin. J Am Acad Dermatol 41:143-64
9. Happle R (2005) Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 141:385-8 (Pubitemid 40365458)
10. Happle R (2010) The group of epidermal nevus syndromes Part I. Well defined phenotypes. J Am Acad Dermatol 63:1-22
11. Happle R, Hoffmann R, Restano L et al. (1996) Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. Am J Med Genet 65:363-5
12. Harrison BJ, Carpenter R (1977) Somatic crossingover in Antirrhinum majus. Heredity 38: 169-89
13. Hermes B, Cremer B, Happle R et al. (1997) Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. Dermatology 194:77-9 (Pubitemid 27047341)
14. Lionetti E, Pavone P, Kennerknecht I et al. (2010) Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases. Neuropediatrics 41:60-5
15. Mart́nez-Menchón T, Mahiques Santos L, Vilata Corell JJ et al. 2005. Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. Pediatr Dermatol 22: 44-7 (Pubitemid 40176002)
16. Oh GN, Kim JY, Choi JE et al. (2012) Phacomatosis pigmentokeratotica without extracutaneous abnormalities: a case study involving a preterm baby. J Korean Med Sci 27:1444-6
17. Ruggieri M, Milone P, Pavone P et al. (2012) Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. Am J Med Genet A 158A:2870-80
18. Spanó MA, Frei H, Würgler FE et al. (2001) Recombinogenic activity of four compounds in the standard and high bioactivation crosses of Drosophila melanogaster in the wing spot test. Mutagenesis 16:385-94 (Pubitemid 32894723)
19. Stern C (1936) Somatic crossing over and segregation in Drosophila melanogaster. Genetics 21:625-730
20. Vig BK (1973) Somatic crossing over in GLYCINE MAX (L.) Merrill: effect of some inhibitors of DNA synthesis on the induction of somatic crossing over and point mutations. Genetics 73:583-96