Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.

Autosomal recessive primary hypertrophic osteoarthropathy1 (PHOAR1) is characterized by delayed closure of the fontanels, digital clubbing, arthropathy and periostosis. Homozygous mutations in hydroxyprostaglandin dehydrogenase (HPGD) gene are the underlying pathology of PHOAR1. The aim of this study was to analyze the HPGD gene and the changing clinical and radiological findings with advancing age of two siblings with the diagnosis of PHOAR1. A novel 2-bp homozygous deletion was found in exon 3 (c.310-311delCT) of HPGD gene in the patients. Clinical and radiological findings of the siblings were evaluated between 4 months and 8 years and 6 months of age. The painful swelling and sweating of the hands and feet, cranial ossification defect and expanded diaphyses were evident at infantile period and gradually showed improvement until 4 years of age. After the age of 4 years, digital clubbing and swelling of knees persisted, palmoplantar hyperkeratosis developed and acro-osteolysis became evident on hand radiographs. In conclusion, we suggest that the clinical findings of the patients with PHOAR1 should be classified in two periods as early and late childhood. We also observed that there was intrafamilial variability of clinical findings.

Paquidermoperiostosis / Paquidermoperiostosis

La paquidermoperiostosis es una rara enfermedad que clínicamente se caracteriza por presentar acropaquias y engrosamiento de manos y pies además de un engrosamiento de los pliegues de la piel de la cara. La paquidermoperiostosis pertenece al grupo de la osteoartropatía Hipertrófica. Presentamos el caso de un paciente nacido y residente en el oriente, que acudió a la consulta externa del Hospital Vozandes Quito, y hacemos una revisión de la osteoartropatía hipertrófica.

A case of primary hypertrophic osteoarthropathy without skin involvement (Currarino's disease).

Hypertrophic osteoarthropathy is characterized by digital clubbing, arthropathy and periostosis of long tubular bones. Currarino's disease is an extremely rare variant of primary hypertrophic osteoarthropathy in which there is delayed closure of the fontanelles and an absence of skin involvement. Most reported cases have been in blacks. We report a case in a Caucasian adolescent.

Hypertrophic osteoarthropathy without pachydermia. Idiopathic form.

A 3-year-old boy had primary hypertrophic osteoarthropathy without pachydermia. This case is similar to several others previously described, and it could possibly represent a distinct nosological form of osteoarthropathy.