Subject(s)
Cadherins , Molluscum Contagiosum , Adolescent , Antigens, CD , Cadherins/genetics , Child, Preschool , Female , Humans , Langerhans Cells , Molluscum Contagiosum/diagnosisSubject(s)
Osteoarthropathy, Primary Hypertrophic/diagnosis , Osteoarthropathy, Primary Hypertrophic/urine , Prostaglandins E/urine , Prostanoic Acids/urine , Adolescent , Adult , Alleles , Biomarkers/urine , Case-Control Studies , Hand , Humans , Hydroxyprostaglandin Dehydrogenases/genetics , Male , Middle Aged , Mutation , Organic Anion Transporters/genetics , Phenotype , Young AdultABSTRACT
Pachydermoperiostosis (PDP) is a genetic disease characterized by digital clubbing, periostosis, and pachydermia caused by mutated HPGD or SLCO2A1. Plasma prostaglandin (PG)E2 levels are increased in these patients. However, other eicosanoids have not been quantitated. We aimed to quantitate plasma eicosanoid levels in four patients carrying SLCO2A1 mutations by high-performance liquid chromatography-tandem mass spectrometry. PGE2 level was elevated in all patients; PGD2 and 11ß-PGF2 α levels were also increased in some patients, whereas eicosapentaenoic acid, docosahexaenoic acid, and arachidonic acid levels were decreased in all patients. Our data indicate a dysfunctional eicosanoid homeostasis and varied levels of PG in patients with a complete form of PDP carrying SLCO2A1 mutations. PGE2 levels seem to mostly affect the symptoms, with other eicosanoids possibly having a minor effect.
