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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare disease of the skin and bones that has clear genetic predisposition and well-defined clinical features. PDP is characterised by the presence of exuberant skin hypertrophy that, at the most distal parts of the extremities, takes a drumstick configuration. This deformity is conventionally known as digital clubbing. In advanced stages, skin hypertrophy may also be present in the head with furrowing of the facial features and eyelids ptosis. Another characteristic feature of the disease is periosteal proliferation of the long bones. Abnormal vascular endothelial growth factor and/or genetically determined prostaglandins overexpression may play a key role on its pathogenesis. No therapy has been shown to be effective in reversing hypertrophic changes. When bone pain is present, non-steroidal anti-inflammatory drugs are frequently useful. Isolated case reports have described that bisphosphonates may ease recalcitrant bone pain.
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PMID:Miscellaneous non-inflammatory musculoskeletal conditions. Pachydermoperiostosis. 2214 50

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 (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