Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report

Abstract

Pachydermoperiostosis is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. We report the case of a patient with a complete form of pachydermoperiostosis with bilateral ptosis as presenting feature.

Touraine-Solente-Gole syndrome with acne vulgaris successfully treated with isotretinoin

“…8 PGE2 may mimic the activity of osteoblasts and osteoclasts, and may be responsible for acro-osteolysis and formation of periosteal bone, in addition, it has vasodilator effects that may be responsible for prolonged local vasodilation, resulting in digital clubbing. 4 The combination of skin thickening and bone enlargement may result in large enlargement of the extremities -enlargement similar to abutment of the lower limbs 1,11 striking physical findings of our patient. An aged appearance, often seen, was observed because of thickened, wavy skin.…”

“…Joint involvement includes joint effusion (41% of cases), often affecting the knees, and polyarthritis, usually symmetrical, present in 20% to 40% of cases. 1 The characteristic radiological features are cortical thickening and periostitis of long bones, which is bilateral and symmetrical. 1 Periosteal reaction is irregular and often involves the epiphyses, which distinguishes it from the secondary form that usually spares the epiphyses.…”

“…1It is more common and severe in men, with a sex ratio of 9: 1. 1,2 The condition develops in childhood or, especially, in adolescence, and progresses for 10years or more when it usually stabilizes. 2,3 Although an autosomal dominant inheritance with incomplete penetrance and variable expression has been confirmed, both autosomal recessive inheritances have been suggested, these may differ in severity and prevalence of clinical manifestations.…”

Touraine-Solente-Gole Syndrome: A Rare Case Report

“…Touraine-Solente-Gole Syndrome or PDP is a rare disease accounting for only 3% to 5% of all cases of hypertrophic osteoarthropathy (HOA) 7 . The diagnostic criteria for pachydermoperiostosis are: Major criteria: pachydermia, periostosis, finger clubbing.…”

“…Sebaceous gland hyperplasia and dermal mucin deposition contribute to eyelid thickening and the development of ptosis. [7][8][9][10][11] Differential diagnosis includes acromegaly, secondary hypertrophic osteoarthropathy following lung, liver and intestinal malignancy, thyroid acropachy and syphilitic periostitis.…”