Inhalant use disorder is a psychiatric condition characterized by repeated deliberate inhalation from among a broad range of household and industrial chemical products with the intention of producing psychoactive effects. In addition to acute intoxication, prolonged inhalation of fluorinated compounds can cause skeletal fluorosis (SF). We report a young woman referred for hypophosphatasemia and carrying a heterozygous ALPL gene variant (c.457T>C, p.Trp153Arg) associated with hypophosphatasia, the heritable metabolic bone disease featuring impaired skeletal mineralization, who instead suffered from SF. Manifestations of her SF included recurrent articular pain, axial osteosclerosis, elevated bone mineral density, maxillary exostoses, and multifocal periarticular calcifications. SF was suspected when a long history was discovered of ‘huffing’ a computer cleaner containing 1,1-difluorethane. Investigation revealed markedly elevated serum and urine levels of F–. Histopathology and imaging techniques including backscattered electron mode scanning electron microscopy, X-ray microtomography, energy dispersive and wavelength dispersive X-ray emission microanalysis, and polarized light microscopy revealed that her periarticular calcifications were dystrophic deposition of giant pseudo-crystals of francolite, a carbonate-rich fluorapatite. Identifying unusual circumstances of F– exposure is key for diagnosing non-endemic SF. Increased awareness of the disorder can be lifesaving.
Keywords: ALPL gene; Alkaline phosphatase; Compressed air duster; Difluoroethane; Ectopic calcification; Exostoses; Fluorapatite; Fluoride; Fluorocarbon; Fluorosis; Francolite; Heterotopic calcification; Hydroxyapatite; Hyperostosis; Hypophosphatasemia; Hypophosphatasia; Metabolic bone disease; Mineralization; Osteosclerosis; ‘Huffing”.
*Original abstract online at https://www.sciencedirect.com/science/article/abs/pii/S8756328222000977?via%3Dihub