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Endocrine Abstracts (2017) 49 EP851 | DOI: 10.1530/endoabs.49.EP851

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1Marmara University School of Medicine, Endocrinology and Metabolism Disease Department, Istanbul, Turkey; 2Marmara University School of Medicine, Nephrology Department, Istanbul, Turkey.


Introduction: Pachydermoperiostosis (PDP) is a rare hereditary syndrome with familial and idiopathic forms that is characterized by subperiosteal new bone formation with pain, polyarthritis, cutis vertices grata, seborrhea, hyperhidrosis and digital clubbing. Periostosis and cutaneous thickening along with the absence of any signs of cardiovascular, pulmonary, hepatic, intestinal and mediastinal diseases causing secondary hypertrophic osteoarthropathy suggest PDP. The incidence of the disease is unknown. It is manifested mainly by dermatological and rheumatological symptoms. Rheumatoid arthritis, acromegaly, neurofibromatosis, hypothyroidism must be considered at differential diagnosis.

Case report: A 21-year-old male presented to the internal medicine department with polyarthritis and acromegaloid facial features. The patient had clubbing, swelling without an inflammation signs at knee joints and wrist; and thickening and folding of the facial skin (cutis verticis gyrata). The patient had hyperhidrosis but didn’t have enlargement of hand, feet or lingua. Laboratory examination including growth hormone assay, thyroid profile, romatoid factor, anti nükleer anticor, anti CCP, tests for syphilisis, ESR were normal. He did not have family history and genetic transmission is ruled out by HPGD gene analysis. There were symmetric subperiostal bone formation at the radiographs of forearms and legs. The scintigraphy showed a osteoblastic hyperactivation in the distal radius, metacarpal bones and tibia. Based on clinical and radiological findings PDP was diagnosed. We consulted the patient to rheumatology department for arthritis and steroid theraphy was started.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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