Digital clubbing, hyperhidrosis, acro-osteolysis and osteoporosis. A case resembling pachydermoperiostosis.
We report a Cambodian girl with digital clubbing, profuse hyperhidrosis, and joint and leg pain and swelling. She also had extensive acro-osteolysis of distal phalanges as well as generalized osteoporosis. There was no other affected person in the family, but her parents were first cousins. Although the X-ray changes are unusual, this patient probably represents a case of pachydermoperiostosis, either occurring as a new mutation or inherited as an autosomal recessive syndrome.
D001862:Bone Resorption / Q000150:complications*; D003241:Consanguinity; D005260:Female; D030342:Genetic Diseases, Inborn / Q000473:pathology; D006801:Humans; D006945:Hyperhidrosis / Q000150:complications*; D009154:Mutation; D010005:Osteoarthropathy, Secondary Hypertrophic / Q000150:complications*; D010014:Osteolysis / Q000150:complications*; D010024:Osteoporosis / Q000150:complications*