Phakomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation

Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?

“…Phosphaturia in TIO is caused by a circulating factor(s), called ''phosphatonin(s),'' secreted by the tumor cells [Cai et al, 1994;Econs and Drezner, 1994;Seufert et al, 2001]. Several case reports indicate that severe bone hypomineralization in ENS is partially corrected when skin lesions are removed [Aschinberg et al, 1977;McAlister and Siegel, 1989;Ivker et al, 1997;Tokatli et al, 1997;Saraswat et al, 2003]. In addition, skin lesions from a patient with ENS reportedly produced a phosphaturic effect when injected into animals [Aschinberg et al, 1977].…”

The group of epidermal nevus syndromes

“…103,[118][119][120][121][122][123] Second, photographs of some patients with PPK are notable 122,123 for an unusual variant of sebaceous nevus in the form of nevus marginatus, a lesion characterized by brown papules that border a flat erythematous central area of sebaceous hyperplasia, whereas the elevated margin shows features of a nonorganoid EN. 124 Third, patients with PPK are remarkably prone to develop 45,70,85,90,122,[125][126][127] The incidence of such association appears to be higher than that observed in Schimmelpenning syndrome. Fourth, an earlier statement that coloboma and epibulbar lipodermoid, as observed in Schimmelpenning syndrome, have so far not been found to be associated with phacomatosis pigmentokeratotica 102 Schimmelpenning syndrome, 21 linear nevus sebaceus syndrome, 127 FeuersteineMims' neuroectodermal syndrome, 32 and ''nevus unius lateris.''…”

Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas

“…This association has so far been described in about 20 cases. [4][5][6][7] TIO is caused by a range of benign mesenchymal bony or cutaneous tumours secreting a phosphaturic substance, named phosphatonin, which gives rise to renal phosphate loss. 8 The fibroblast growth factor 23 gene (FGF23) is the most studied among the possible candidate genes for phosphatonin production: it may be involved in a negative feedback pathway related to vitamin D. 8 The location of secretion of phosphatonin remains unclear.…”