Mutational screening of the exons 7 and 8 of the SQSTM1/p62 gene revealed the presence of a C/T transversion at position 1215 in exon 8 (Fig. 2) in the affected individuals (VB and VG). This mutation causes the substitution proline/leucine at codon 392 (P392L), and it has been described by other reports in dif­ferent populations. [...]

In all patients pharmacological treatment was prescribed when serum AP and BAP levels firstly increased at least 25% above the upper limit of the normal range. During the whole observa­tion period we used in these PDB patients synthetic sCT at the dosage of 100 UI i.m/day for 6 months and bisphosphonates (clodronate, 300 mg i.v./day [...]

Patients We monitored for a long period 3 members of a family affected by polyostotic PDB at the Bone Metabolic Unit of the IRCCS Ospedale Maggiore di Milano. The members of this family were a woman (proband), her brother, their father and the brother’s daughter (Fig. 1). Brother, sister and their father were visited since [...]