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A case of pachydermaperiostosis in a 16 year old male is presented. The main clinical features were bilateral mechanical gonalgia, acropachy, bilateral palpebral ptosis and hyperhydrosis. The diagnosis was confirmed by X-ray, showing a wide, symmetric periostosis. The literature is reviewed and the differential diagnosis is commented on.
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PMID:[Pachydermoperiostosis (primary hypertrophic osteoarthropathy)]. 210 40

A 34-year-old African-American man was referred for eyelid swelling and ocular discomfort. He was found to have floppy hypertrophic eyelids and marked bilateral mechanical ptosis that was present since childhood. Systemic examination was significant for furrows on his forehead and scalp, coarse facial features, and enlarged hands and feet with clubbing of the fingers and toes. Radiographic imaging of the long bones demonstrated periostosis, and MRI of the head revealed a pituitary macroadenoma. Pituitary and thyroid hormone levels were normal. The patient was diagnosed with pachydermoperiostosis and a non-secreting pituitary macroadenoma. Bilateral upper lid tightening via wedge resection was followed by bilateral external levator advancement ptosis repair in a staged manner. The patient achieved symptom relief and improved lid position postoperatively.
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PMID:Pachydermoperiostosis: a rare cause of marked blepharoptosis and floppy eyelid syndrome. 2366 73

Pachydermoperiostosis is a rare hereditary disorder that is characterised by pachydermia (thickening of the facial skin and/or scalp), and periostosis (swelling of the periarticular tissue and a subperiosteal new bone formation). Other associated features are arthralgia, polyarthritis, clubbing, seborrhoea, hyperhidrosis, hypertrophic gastropathy, peptic ulcer and gyanecomastia. Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common association. We are hereby reporting a patient with a complete form of Pachydermoperiostosis, wherein the presenting feature was bilateral ptosis.
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PMID:Bilateral ptosis due to a rare cause-pachydermoperiostosis. 2399 90

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.
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PMID:Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. 2537 61

Pachydermoperiostosis (PDP) is a multisystem disorder of mesenchymal origin. It is a form of hypertrophic osteoarthropathy. The typical clinical features include pachydermia, cutis verticus gyrata, digital clubbing, and periostosis. Patients present with mechanical ptosis resulting from markedly thickened eye lids. Floppy eye lids have rarely been reported in association with PDP. We describe a rare case of PDP associated with ptosis and floppy eye lids in an adult male. Meibomian gland dysfunction was documented by meibography. The patient underwent bilateral upper lid wedge resection, lateral tarsal strip, tarsectomy and external levator advancement with good cosmetic outcome following surgery.
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PMID:A rare case of pachydermoperiostosis associated with blepharoptosis and floppy eyelids. 2811 40

Touraine-Solente-Gole syndrome, also known as Pachydermoperiostosis (PDP) or Primary Hypertrophic Osteoarthropathy, 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 Touraine-Solente-Gole syndrome with bilateral blepharoptosis as presenting feature.
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PMID:Touraine-Solente-Gole syndrome. 2904 27

Touraine-Solente-Gole syndrome (pachydermoperiostosis [PDP] or primary idiopathic hypertrophic osteoarthropathy [HOA]) is a rare hereditary disorder that is characterized by a triad of manifestations that consists of skin changes (pachydermia), abnormal bone and joint manifestations (periostosis and/or artritis), and digital clubbing (acropachia). Here, we report the case of 24-year-old male who presented with severe bilateral true eyelid ptosis. Physical examination revealed severe ptosis with poor function of the levator palpabrae superioris muscle, thickening of and deep grooves in facial skin (especially at the frontal region), and abnormal appearance of the scalp with accentuating folds and deep furrows (cutis verticis gyrata). Abnormal bone enlargement of the hands, knees, and feet was also observed. Frontal rhytidectomy and levator resection and advancement were performed to alleviate symptoms. At the short-term follow-up, the patient described being satisfied with the outcome of treatment. This patient will be routinely followed over the long term to evaluate disease progression. Although the cause of ptosis in most PDP is mechanical process or dysfunction, this case of PDP had bilateral true eyelid ptosis due to poor levator palpabrae superioris muscle excursion with coexisting signs and symptoms of complete form PDP. This finding highlights the need to investigate for bilateral true eyelid ptosis caused by abnormal levator palpabrae superioris muscle function in patients diagnosed with PDP.
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PMID:Touraine-Solente-Gole syndrome: Clinical manifestation with bilateral true eyelid ptosis. 3215 79