Spontaneous multifocal pyogenic granulomas.
FGFR1
NRAS
RAS
Ras/Raf/MAPK
lobular capillary hemangioma
pulsed dye laser
pyogenic granuloma
somatic overgrowth mutation
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
05 Jul 2024
05 Jul 2024
Historique:
received:
17
09
2023
accepted:
19
05
2024
medline:
5
7
2024
pubmed:
5
7
2024
entrez:
5
7
2024
Statut:
aheadofprint
Résumé
Cutaneous pyogenic granulomas (PGs) are common, benign vascular tumors of uncertain pathogenesis; however, a growing body of literature suggests that the formation of PGs may be secondary to genetic alterations in both the Ras/Raf/MAPK and PI3K/Akt/mTOR pathways. We present three cases of spontaneous multifocal PGs that first presented in infancy, were not associated with other vascular anomalies or discernable etiology, harbored somatic genetic variants in the Ras/Raf/MAPK pathway (NRAS n = 2, FGFR1 n = 1), were refractory to treatment with beta-blockers and mTOR inhibitors, and responded best to pulsed dye laser. We propose the term "spontaneous multifocal PGs" to describe this entity.
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 Wiley Periodicals LLC.
Références
Plachouri KM, Georgiou S. Therapeutic approaches to pyogenic granuloma: an updated review. Int J Dermatol. 2019;58(6):642‐648.
Giblin AV, Clover AJP, Athanassopoulos A, Budny PG. Pyogenic granuloma—the quest for optimum treatment: audit of treatment of 408 cases. J Plast Reconstr Aesthet Surg. 2007;60(9):1030‐1035.
Mallet S, Rebelle C, Ligi I, et al. Congenital and disseminated pyogenic granuloma‐like vascular lesions. Acta Derm Venereol. 2015;95(7):860‐861.
Alomari MH, Kozakewich HPW, Kerr CL, et al. Congenital disseminated pyogenic granuloma: characterization of an aggressive multisystemic disorder. J Pediatr. 2020;226:157‐166.
Browning JC, Eldin KW, Kozakewich HP, Mulliken JB, Bree AF. Congenital disseminated pyogenic granuloma. Pediatr Dermatol. 2009;26(3):323‐327.
Gupta V, Mridha AR, Sharma VK. Pediatric dermatology photoquiz: multiple erythematous papules on the back. Recurrent pyogenic granulomas with satellitosis. Pediatr Dermatol. 2016;33(1):97‐98.
George SM, Gossain SR, Morrison IK, Coburn PR. Recurrent pyogenic granuloma with satellitosis. BMJ Case Rep. 2012; bcr1120115162.
van Steensel MAM. The growing spectrum of cutaneous RASopathy. J Invest Dermatol. 2016;136(2):359‐360.
Groesser L, Peterhof E, Evert M, Landthaler M, Berneburg M, Hafner C. BRAF and RAS mutations in sporadic and secondary pyogenic granuloma. J Invest Dermatol. 2016;136(2):481‐486.
Lim YH, Douglas SR, Ko CJ, et al. Somatic activating RAS mutations cause vascular tumors including pyogenic granuloma. J Invest Dermatol. 2015;135(6):1698‐1700.
Greene AK, Goss JA. Vascular anomalies: from a clinicohistologic to a genetic framework. Plast Reconstr Surg. 2018;141(5):709‐717.
McNulty SN, Evenson MJ, Corliss MM, et al. Diagnostic utility of next‐generation sequencing for disorders of somatic mosaicism: a five‐year cumulative cohort. Am J Hum Genet. 2019;105(4):734‐746.
Juhlin L, Hjertquist SO, Ponten J, Wallin J. Disseminated granuloma pyogenicum. Acta Dermatovener. 1970;50:134‐136.
Frain BW. Multiple pyogenic granulomata. Br J Dermatol. 1958;70(11):428‐429.
Nappi O, Wick MR. Disseminated lobular capillary hemangioma (pyogenic granuloma). A clinicopathologic study of two cases. Am J Dermatopathol. 1986;8(5):379‐385.
Xie Y, Su N, Yang J, et al. FGF/FGFR signaling in health and disease. Signal Transduct Target Ther. 2020;5(1):181.
Cross MJ, Claesson‐Welsh L. FGF and VEGF function in angiogenesis: signaling pathways, biological responses and therapeutic inhibition. Trends Pharmacol Sci. 2001;22(4):201‐207.
Farooq M, Khan AW, Kim MS, Choi S. The role of fibroblast growth factor (FGF) signaling in tissue repair and regeneration. Cells. 2021;10(11):3242. doi:10.3390/cells10113242
Bale TA. FGFR‐gene family alterations in low‐grade neuroepithelial tumors. Acta Neuropathol Commun. 2020;8(1):21.
Dienstmann R, Rodon J, Prat A, et al. Genomic aberrations in the FGFR pathway: opportunities for targeted therapies in solid tumors. Ann Oncol. 2014;25(3):552‐563.
Young RJ, Fernando M, Hughes D, Brown NJ, Woll PJ. Angiogenic growth factor expression in benign and malignant vascular tumours. Exp Mol Pathol. 2014;97(1):148‐153. doi:10.1016/j.yexmp.2014.06.010
Jansen P, Müller H, Lodde GC, et al. GNA14, GNA11, and GNAQ mutations are frequent in benign but not malignant cutaneous vascular tumors. Front Genet. 2021;30(12):663272. doi:10.3389/fgene.2021.663272
Keppler‐Noreuil KM, Rios JJ, Parker VER, et al. PIK3CA‐related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167(2):287‐295.
Diociaiuti A, Rotunno R, Pisaneschi E, et al. Clinical and molecular spectrum of sporadic vascular malformations: a single‐center study. Biomedicine. 2022;10(6):1460.
Cao C, Li S, Dai X, et al. Genistein inhibits proliferation and functions of hypertrophic scar fibroblasts. Burns. 2009;35(1):89‐97. doi:10.1016/j.burns.2008.03.011
Al‐Olabi L, Polubothu S, Dowsett K, et al. Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. J Clin Invest. 2018;128(4):1496‐1508.
Nicholson CL, Flanagan S, Murati M, et al. Successful management of an arteriovenous malformation with trametinib in a patient with capillary‐malformation arteriovenous malformation syndrome and cardiac compromise. Pediatr Dermatol. 2022;39(2):316‐319.