Digital clubbing, hyperhidrosis, acro-osteolysis and osteoporosis. A case resembling pachydermoperiostosis

Autor:	Ckintana Sirinavin, Neil R. M. Buist, Premrudee Mokkhaves
Rok vydání:	2008
Předmět:	medicine.medical_specialty Osteolysis education Osteoporosis Consanguinity Acro-Osteolysis Spinal osteoarthropathy Internal medicine Genetics Humans Hyperhidrosis Medicine Bone Resorption Genetics (clinical) business.industry Osteoarthropathy Secondary Hypertrophic Digital Clubbing Genetic Diseases Inborn Phalanx medicine.disease Dermatology Endocrinology Mutation Female medicine.symptom business
Zdroj:	Clinical Genetics. 22:83-89
ISSN:	1399-0004 0009-9163
Popis:	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.
Databáze:	OpenAIRE
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