Abstract We describe two cases of familial primary hypertrophic osteoarthropathy. In this family, brother and a sister were affected with history of similar features in father. Keywords: Primary Hypertrophic Osteoarthropathy (PHOA), Clubbing of the digits. Introduction Primary Hypertrophic Osteoarthropathy (PHOA) is a clinical syndrome characterised by clubbing of the digits, enlargement of the extremities and synovial joints effusions associated with pain and swelling. This rare condition occurs in the absence of any other disease involving other systems of the body. It is usually familial, accounts for 3 to 5% of all cases of HOA and has a painless, chronic course. 1 This disease is inherited as an autosomal dominant trait with variable expression. It usually begins insidiously at puberty and is nine times more common in males as compared to females. Although a familial condition there are only few families reported with this condition. Here we report a family affected with this rare condition. Keywords: Primary hypertrophic osteoarthropathy, Clubbing, Synovial joints effusions. Case Reports Case-1 A thirty-eight years old Kashmiri man was seen with twelve years history of pain and swelling of multiple joints. His problems began at the age of twenty five years when he complained of occasional arthralgia in multiple joints especially after prolonged walking, playing football, strenuous work or exercise. He gave a history of profuse sweating of palms and soles and noticed progressive enlargement and widening of fingers, hands, wrists, feet, toes and ankles joints. He was concerned about the abnormal appearance of his hands and feet and also noticed thickening of skin on face and scalp and coarse features. His parents were first-degree cousins and consanguineous marriages are common in the family. He gave a family history of identical condition affecting his father and elder sister who had similar appearance of hands, fingers and toes. Physical examination showed advanced clubbing of all fingers, more severe in thumbs, enlargement of hand and wrist joints (Figures-1 and 2). There was no pain or restriction of movements of small joints of the hand. There was clubbing of toes, widening of feet and ankles (elephant feet) and knee joints. There was thickening of forehead folds with evident pachydermia. The other notable features were palmo-plantar hyperhidrosis and cutis verticis gyrata. There was no effusion of knee or ankle joints. He had stage 1 hypertension. Rest of the cardiovascular examination was normal. There were no other physical findings. Laboratory investigations showed Haemoglobin of 14.6gm/dl, normal differential counts. ESR. Urea, Creatinine, LFTs and lipid profile were all normal. X-rays showed exuberant periosteal reaction along the distal meta-diaphyses of ulna, radius, tibia and fibula. There were no other associated lesions or erosions. The joint spaces were within normal range. There was clubbing and tufting of terminal phalanges of both hands (Figure-3). X-ray of knee joints showed marked irregular shaggy periosteal reaction along distal femur and proximal tibia and fibula extending up to epiphyseal area. There were early degenerative changes of left knee joint, with considerable soft tissue swelling and evidence of small effusion in suprapatellar region. There were no bony erosions or destructive lesions and joint spaces were normal. These findings were suggestive of patchy-dermo periosteosis. Chest X- ray was normal. Tc-99m bone scan showed increased patchy tracer uptake involving shafts and distal ends of radius and ulna bilaterally. There was increased tracer uptake in both ends of femorii, tibia and fibula extending into the adjacent part of the shafts. There was increased tracer accumulation at wrist joints and on radial aspect of distal phalanx of thumb and toes. Vol. 64, No. 7, July 2014 843 CASE REPORT Primary hypertrophic osteoarthropathy Abdul Khalid, Muhammad Tariq Baqai Department of Medicine, AJK Medical College, Muzaffarabad, Pakistan. Correspondence: Abdul Khalid. Email: Khalid_awanajk@yahoo.com