Glomuvenous malformations with smooth muscle and eccrine glands: Unusual histopathologic features in a familial setting

Journal of Cutaneous Pathology

Volumn 41, Issue 3, 2014, Pages 308-315

  Borroni, Riccardo G ^a   Grassi, Sara ^a,b   Concardi, Monica ^a   Puccio, Ignazio ^a   Giordano, Calogero ^a   Agozzino, Manuela ^a   Caspani, Clelia ^a   Grasso, Maurizia ^a   Diegoli, Marta ^a,b   Arbustini, Eloisa ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

eccrine glands; glomangioma; glomuvenous malformation; multiple familial glomangiomyomas; smooth muscle

Indexed keywords

GLMN PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; FEMALE; GENETICS; GERMLINE MUTATION; GLOMUS TUMOR; GLOMUVENOUS MALFORMATION; HAIR FOLLICLE; HUMAN; MALE; METABOLISM; MULTIPLE FAMILIAL GLOMANGIOMYOMAS; PATHOLOGY; SKIN TUMOR; SMOOTH MUSCLE; SWEAT GLAND;

ECCRINE GLANDS; GLOMANGIOMA; GLOMUVENOUS MALFORMATION; MULTIPLE FAMILIAL GLOMANGIOMYOMAS; SMOOTH MUSCLE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; ECCRINE GLANDS; FEMALE; GERM-LINE MUTATION; GLOMUS TUMOR; HAIR FOLLICLE; HUMANS; MALE; MUSCLE, SMOOTH; SKIN NEOPLASMS;

EID: 84894561892     PISSN: 03036987     EISSN: 16000560     Source Type: Journal    
DOI: 10.1111/cup.12283     Document Type: Article

References (25)

1. Brouillard P, Vikkula M,. Vascular malformations: localized defects in vascular morphogenesis. Clin Genet 2003; 63: 340.
2. Faggioli GL, Bertoni F, Stella A, Bacchini P, Mirelli M, Gessaroli M,. Multiple diffuse glomus tumor. A case report of glomangiomyoma and review of the literature. Int Angiol 1988; 7: 281.
3. Iqbal A, Cormack GC, Scerri GC,. Hereditary multiple glomangiomas. Br J Plast Surg 1998; 51: 32.
4. Landthaler M, Braun-Falco O, Eckert F, Stolz W, Dorn M, Wolff HH,. Congenital multiple plaquelike glomus tumors. Arch Dermatol 1990; 126: 1203.
5. Yang JS, Ko JW, Suh KS, Kim ST,. Congenital multiple plaque-like glomangiomyoma. Am J Dermatopathol 1999; 21: 454.
6. Yoon TY, Lee HT, Chang SH,. Giant congenital multiple patch-like glomus tumors. J Am Acad Dermatol 1999; 40: 826.
7. Masson C,. Le glomus neuromyoarterial des regions tactiles et ses tumeurs. Lyon Chir 1924; 21: 257.
8. Carroll RE, Berman AT,. Glomus tumors of the hand: review of the literature and report on twenty-eight cases. J Bone Joint Surg Am 1972; 54: 691.
9. Mounayer C, Wassef M, Enjolras O, Boukobza M, Mulliken JB,. Facial "glomangiomas": large facial venous malformations with glomus cells. J Am Acad Dermatol 2001; 45: 239.
10. Boon L, Mulliken JB, Enjolras O, Vikkula M,. Glomuvenous malformation (glomangioma) and venous malformation. Distinct clinicopathologic and genetic enitities. Arch Dermatol 2004; 140: 971.
11. Goodman TF, Abele DC,. Multiple glomus tumors. Arch Dermatol 1971; 103: 11.
12. Brouillard P, Boon LM, Mulliken JB, et al. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (" glomangiomas"). Am J Hum Genet 2002; 70: 866.
13. Schürch W, Skalli O, Lagacé R, Seemayer TA, Gabbiani G,. Intermediate filament proteins and actin isoforms as markers for soft-tissue tumor differentiation and origin III. Hemangiopericytomas and glomus tumors. Am J Pathol 1990; 136: 771.
14. Borroni RG, Narula N, Diegoli M, et al. A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations. Exp Dermatol 2011; 20: 1032.
15. McIntyre BA, Brouillard P, Aerts V, Gutierrez-Roelens I, Vikkula M,. Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse. Gene Expr Patterns 2004; 4: 351.
16. Irrthum A, Brouillard P, Enjolras O, et al. Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC. Eur J Hum Genet 2001; 9: 34.
17. Demirkesen C, Hoede N, Moll R,. Epithelial markers and differentiation in adnexal neoplasms of the skin: an immunohistochemical study including individual cytokeratins. J Cutan Pathol 1995; 22: 518.
18. Schwab M, (ed). Encyclopedia of cancer. Berlin and Heidelberg: Springer-Verlag, 2012.
19. Calduch L, Monteagudo C, Martínez-Ruiz E, et al. Familial generalized multiple glomangiomyoma: report of a new family, with immunohistochemical and ultrastructural studies and review of the literature. Pediatr Dermatol 2002; 19: 402.
20. Chien AJ, Asgari M, Argenyi ZB,. Eccrine angiomatous hamartoma with elements of an arterio-venous malformation: a newly recognized variant. J Cutan Pathol 2006; 33: 433.
21. Hyman AB, Harris H, Brownstein MH,. Eccrine angiomatous hamartoma. N Y State J Med 1968; 68: 2803.
22. Pelle MT, Pride HB, Tyler WB,. Eccrine angiomatous hamartoma. J Am Acad Dermatol 2002; 47: 429.
23. Aloi F, Tomasini C, Pippione M,. Eccrine angiomatous hamartoma: a multiple variant. Dermatology 1992; 184: 219.
24. Elder D, Elenitsas R, Raysdale BD,. Tumors of the epidermal appendages. In, Elder D, Elenitsas R, Jaworsky C, Johnson B Jr, eds. Lever's histopathology of the skin. Philadelphia: Lippincott-Raven, 1997; 777.
25. Al Dhaybi R, Powell J, McCuaig C, Kokta V,. Differentiation of vascular tumors from vascular malformations by expression of Wilms tumor 1 gene: evaluation of 126 cases. J Am Acad Dermatol 2010; 63: 1052.