TLDR EF and PXE not closely related.
Collagen type I, laminin and fibronectin. In addition, we
analysed ABCC6 mutations in DNA from peripheral blood
lymphocytes using the denaturing high-performance liquid
chromatography technique.
Immunohistochemical staining revealed a diffuse expressi-
on of actin and desmin by many spindle cells throughout
the connective tissue. Vimentin was expressed only in some
of these cells (Fig. 1a). Elastic fibres stained positive with an
antielastin antibody (Fig. 1b), while collagen type I and fi-
bronectin were absent. Laminin stained weakly the elastic
fibres and also the endothelial cells of small vessels scattered
throughout the tumour.
ABCC6 mutation analysis showed no abnormalities in any
individual analysed.
In conclusion, EF is characterized by dystrophic elastotic
material with sparse cell population, most likely of mesenchy-
mal origin. No mutations of the ABCC6 gene have been found
in our study population; therefore, it can be concluded that
EF and PXE are not closely related conditions. Further studies
are necessary to elucidate the possible genetic predisposition
to EF.
S FERNANDEZ-FIGUEROA
M DIAZ-LACAVA
J RUIZ-ERTEGUN
L ALCARAZ-QUILEZ
F SANCHEZ-BRAVO
R JIMENEZ-LUCAS
V PIQUERO-PEREZ
References
1 Alam M, Hynan LS. Elastofibroma: an underrecognized entity. Int
J Dermatol 2003; 42:402-8.
2 Tosti A, Piraccini BM, Sertoli MR et al. Multiple familial elasto-
fibromas. Eur J Dermatol 2000; 10:545-7.
3 Torrelo A, Fernandez-Flores A, Requena L. Coexistence of pseu-
doxanthoma elasticum and elastofibroma cutaneous lesions suggest-
ing a polygenic inheritance for both disorders. Br J Dermatol 2004;
151:1005-9.
Conflicts of interest: none declared.
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