Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell

Journal of Investigative Dermatology

Volumn 133, Issue 8, 2013, Pages 1998-2003

  Groesser, Leopold ^a   Herschberger, Eva ^a   Sagrera, Ana ^b   Shwayder, Tor ^c   Flux, Katharina ^d   Ehmann, Laura ^e   Wollenberg, Andreas ^e   Torrelo, Antonio ^f   Bagazgoitia, Lorea ^g   Diaz Ley, Blanca ^g   Tinschert, Sigrid ^h,i   Oschlies, Ilske ^j   Singer, Sebastian ^a   Mickler, Marion ^a   Toll, Agusti ^k,l   Landthaler, Michael ^a   Real, Francisco X ^b,m   Hafner, Christian ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b Centro Nacional de Investigaciones Oncológicas   (Spain)

^c HENRY FORD HOSPITAL   (United States)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY OF MUNICH   (Germany)

^f HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^g HOSPITAL RAMÓN Y CAJAL   (Spain)

^h INNSBRUCK MEDICAL UNIVERSITY   (Austria)

ⁱ DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^j UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^k HOSPITAL DEL MAR   (Spain)

^l INST MUNIC D INVESTIGACIO MEDICA   (Spain)

^m UNIVERSITAT POMPEU FABRA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; FIBROBLAST GROWTH FACTOR RECEPTOR 3; RAS PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CODON; ENDOMETRIUM POLYP; EXON; FEMALE; GENE IDENTIFICATION; GENETIC ANALYSIS; HAIR ROOT; HETEROZYGOTE; HUMAN; HUMAN CELL; KERATINOCYTE; MELANOCYTE; MELANOCYTIC NEVUS; MULTIPOTENT STEM CELL; MUTATIONAL ANALYSIS; PHACOMATOSIS PIGMENTOKERATOTICA; PHAKOMATOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEBACEOUS NEVUS; SEQUENCE ANALYSIS; WILD TYPE;

EID: 84880324718     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.24     Document Type: Article

References (22)

1. Bastian BC, LeBoit PE, Pinkel D (2000) Mutations and copy number increase of HRAS in Spitz nevi with distinctive histopathological features. Am J Pathol 157:967-72 (Pubitemid 32109388)
2. Chantorn R, Shwayder T (2011) Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. Pediatr Dermatol 28:715-9
3. Da Forno PD, Pringle JH, Fletcher A et al. (2009) BRAF, NRAS and HRAS mutations in spitzoid tumours and their possible pathogenetic significance. Br J Dermatol 161:364-72
4. Der CJ, Finkel T, Cooper GM (1986) Biological and biochemical properties of human rasH genes mutated at codon 61. Cell 44:167-76 (Pubitemid 16036724)
5. Groesser L, Herschberger E, Ruetten A et al. (2012) Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet 44:783-7
6. Groesser L, Vogt T, Happle R et al. (2012) Nevus marginatus revisited: a combined orgaoid and non-organoid epidermal nevus caused by HRAS mutation. Br J Dermatol. 9 October (E-pub ahead of print) PMID: 23046202
7. Hafner C, Groesser L (2013) Mosaic RASopathies. Cell Cycle 12:43-50
8. Hafner C, Toll A, Gantner S et al. (2012) Keratinocytic epidermal nevi are associated with mosaic RAS mutations. J Med Genet 49:249-53
9. Hafner C, Toll A, Real FX (2011) HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. N Engl J Med 365:1940-2
10. Hafner C, van Oers JM, Vogt T et al. (2006) Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest 116:2201-7 (Pubitemid 44162329)
11. Happle R (2010) The group of epidermal nevus syndromes Part I. Well defined phenotypes. J Am Acad Dermatol 63:1-22
12. Happle R, Hoffmann R, Restano L et al. (1996) Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. Am J Med Genet 65:363-5
13. Happle R, Koopman R, Mier PD (1990) Hypothesis: vascular twin naevi and somatic recombination in man. Lancet 335:376-8 (Pubitemid 20059352)
14. Hurst CD, Zuiverloon TC, Hafner C et al. (2009) A SNaPshot assay for the rapid and simple detection of four common hotspot codon mutations in the PIK3CA gene. BMC Res Notes 2:66
15. Kompier LC, Lurkin I, van der Aa MN et al. (2010) FGFR3, HRAS, KRAS, NRAS and PIK3CA mutations in bladder cancer and their potential as biomarkers for surveillance and therapy. PLoS One 5:e13821
16. Koopman RJ (1999) Concept of twin spotting. Am J Med Genet 85:355-8 (Pubitemid 29339963)
17. Tidyman WE, Rauen KA (2009) The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 19: 230-6
18. Torrelo A, Zambrano A (1998) What syndrome is this. Phakomatosis pigmentokeratotica (Happle). Pediatr Dermatol 15:321-3
19. Vidaurri-de la Cruz H, Happle R (2006) Two distinct types of speckled lentiginous nevi characterized by macular versus papular speckles. Dermatology 212:53-8 (Pubitemid 41779748)
20. Wauschkuhn J, Rohde B (1971) Systematized sebaceous, pigmented and epithelial nevi with neurologic symptoms. Neuroectodermal Feuerstein-Mims syndrome. Hautarzt 22:10-3
21. Wiedemeyer K, Hartschuh W (2009) Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome-histological differentiation between trichoblastomas and basal cell carcinomas. J Dtsch Dermatol Ges 7:612-5
22. Wollenberg A, Butnaru C, Oppel T (2002) Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. Acta Derm Venereol 82:55-7 (Pubitemid 34450547)