A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations

Experimental Dermatology

Volumn 20, Issue 12, 2011, Pages 1032-1034

  Borroni, Riccardo G ^a   Narula, Nupoor ^a   Diegoli, Marta ^b   Grasso, Maurizia ^a   Concardi, Monica ^a   Rosso, Renato ^b   Cerica, Alessandra ^a   Brazzelli, Valeria ^a   Arbustini, Eloisa ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

Glomulin; Glomuvenous malformation; Molecular genetics

Indexed keywords

GLOMULIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; GLOMUVENOUS MALFORMATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; ITALY; LETTER; MUTATIONAL ANALYSIS; PAPULE; PHENOTYPE; SKIN EXAMINATION; SKIN NODULE; SKIN PAIN;

ACTINS; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; DERMIS; FAMILY; FATHERS; FEMALE; FRAMESHIFT MUTATION; GLOMUS TUMOR; HETEROZYGOTE; HUMANS; ITALY; LEUKOCYTES, MONONUCLEAR; PARAGANGLIOMA, EXTRA-ADRENAL; PERICYTES; SIBLINGS; SUBCUTANEOUS FAT; VIMENTIN;

EID: 81455139904     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2011.01387.x     Document Type: Letter

References (15)

1. Boon L, Mulliken J B, Enjolras O et al. Arch Dermatol 2004: 140: 971-976.
2. Masson P. Lyon Chir 1923: 21: 257-280.
3. Parsons M E, Russo G, Fucich L et al. Int J Dermatol 1997: 36: 894-900.
4. Limaye N, Vikkula M. In: Mattassi R, Loose D A, Vaghi M, eds. Hemangiomas and Vascular Malformations. Milan: Springer, 2009: 103-104.
5. Faggioli G L, Bertoni F, Stella A et al. Int Angiol 1988: 7: 281-286.
6. Brouillard P, Boon L M, Mulliken J B et al. Am J Hum Genet 2002: 70: 866-874.
7. Iqbal A, Cormack G C, Scerri G. Br J Plast Surg 1998: 51: 32-37.
8. Brouillard P, Ghassibé M, Penington A et al. J Med Genet 2005: 42: e13.
9. Blume-Peytavi U, Adler Y D, Geilen C C et al. J Am Acad Dermatol 2000: 42: 633-639.
10. O'Hagan A H, Moloney F J, Buckley C et al. Br J Dermatol 2006: 154: 450-452.
11. Ostberg A, Moreno G, Su T et al. Australas J Dermatol 2007: 48: 170-173.
12. Gilardi S, Harms M. Hautarzt 1982: 33: 96-100.
13. Miettinen M, Paal E, Lasota J et al. Am J Surg Pathol 2002: 26: 301-311.
14. Dompmartin A, Ballieux F, Thibon P et al. Arch Dermatol 2009: 145: 1239-1244.
15. Bottillo I, Ahlquist T, Brekke H et al. J Pathol 2009: 217: 693-701.