Background: Epidermolysis bullosa (EB) belongs to a family of rare heterogeneous, genetic disorders characterized\nby blistering of the skin and mucous membranes in response to minor mechanical trauma. The involvement of the\noral mucosa and oesophagus stenosis is suggested to be responsible for severe nutritional deficiencies, but few\nstudies have till now considered this aspect. This observational study aimed to evaluate homocysteine status in\nchildren and adolescents with EB by assessing total plasma homocysteine (tHcy) and metabolically related vitamins\n(B6, B12, folate) concentrations.\nMethods: Twenty EB patients (12 M; age range 0.5âË?â??19 years) were evaluated for: plasma tHcy, serum B12 and\nholotranscobalamin (HoloTC, the active fraction of B12), serum and erythrocyte folate (s-F and Ery-F, respectively),\nplasma B6 and serum high sensitive C-reactive-protein (hsCRP) levels. Clinical severity was also evaluated through\nthe Birmingham Epidermolysis Bullosa Severity (BEBS) score. A sex and age well-matched population was also\nenrolled.\nResults: EB patients showed tHcy levels higher (p = 0.04) and B6 levels lower (p = 0.03) than controls. B12, HoloTC, s-F\nand ery-F concentrations did not differ between patients and controls. Multiple linear regression analysis showed that\ntHcy levels were independent of the metabolically related vitamins levels. In addition, serum hsCRP levels were higher\nin EB patients than in controls (p = 0.003) and correlated negatively with B6 concentrations (r = -0.6; p = 0.009). BEBS\nscore correlated negatively with HoloTC (p = 0.022) and B6 (p = 0.005) levels and positively with age (p = 0.031) and\nhsCRP levels (p < 0.001).\nConclusions: The assessment of tHcy and metabolically related vitamin levels describes an important aspect of EB\npatientsââ?¬â?¢ nutritional status which can result essential for their long term care. Monitoring B6 levels in EB patients could\nbe particularly important in order to prevent several complications associated with B6 deficiency and to avoid a B6\nexcess which sustains an inflammatory condition.
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