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Case Reports
. 2023 Jun 20:45:88.
doi: 10.11604/pamj.2023.45.88.38964. eCollection 2023.

Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report

Su Su Hlaing  1 , Adeola Yvonne Field  2   3 , Lizette Lillene Mowatt  2   3 , Hsu Lei Yee  3 , Cynthia Marie Noguera  4 , Gordon Leon Palmer  1 , Angela Christine Mattis  1 , Christine Carol Nelson  5 , James Christian Fleming  6
Affiliations
Case Reports

Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report

Su Su Hlaing et al. Pan Afr Med J. .

Abstract

Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). Ocular manifestations are uncommon; however, blepharoptosis may occur. This case presented with severe bilateral ptosis due to the disease progression. A large 20 mm upper lid resection with levator advancement was performed to improve his ability to see. This is the first reported case of pachydermoperiostosis (PDP) in Jamaica. We present a rare case of pachydermoperiostosis with severe blepharoptosis, who attained a good result with surgical intervention.

Keywords: Jamaica; Pachydermia; case report; pachydermoperiostosis; ptosis.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
A) marked furrowing of the forehead and thickening of the skin; B) digital clubbing and swelling of the wrists and hands
Figure 2
Figure 2
A, B, C) X-rays of both hands and wrists showing increased bone density and loss of corticomedullary differentiation, medullary expansion, and irregular periosteal reaction (spiculated), narrowing of joint spaces at radiocarpal joints associated with diffuse soft tissue swelling; D, E, F) X-rays of his knees showing spiculation around the patellae and proximal tibiae, with thickened cortex with medullary expansion; G) spinal X-ray showing increased bone density with mild degeneration of the spines with anterior osteophytes at L2-L5 and loss of lumbar lordosis
Figure 3
Figure 3
A) 20 mm full-thickness skin biopsy; B) cross-section of full-thickness right upper eyelid biopsy showing the thickened tarsal plate; C) right ptosis repair
Figure 4
Figure 4
histopathological features A) low power; B,C) medium power; D) high power
Figure 5
Figure 5
A) pre-ptosis repair; B) 2 weeks post right ptosis repair showing improvement of the right upper lid, allowing him to see through his visual axis
See this image and copyright information in PMC

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