Pachydermoperiostosis And An Eyelid Ptosis Associated With Spiky Keratoderma – An Unusual Presentation

Pachydermoperiostosis, ( PDP), a rare hereditary disorder that is characterized by digital clubbing, pachydermia, subperiosteal new bone formation, associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis.  It mainly presents due to disfiguring facial features, widen...

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Main Authors: S Das, S Chakraborty, NS Sarkar
Format: Article
Language:English
Published: Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON) 2016-01-01
Series:Nepal Journal of Dermatology, Venereology & Leprology
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Online Access:https://nepjol.info/index.php/NJDVL/article/view/10603
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author S Das
S Chakraborty
NS Sarkar
author_facet S Das
S Chakraborty
NS Sarkar
author_sort S Das
collection DOAJ
description Pachydermoperiostosis, ( PDP), a rare hereditary disorder that is characterized by digital clubbing, pachydermia, subperiosteal new bone formation, associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis.  It mainly presents due to disfiguring facial features, widening of the limbs and bone and joint pain. It affects male population predominantly and transmitted as an autosomal dominant trait. There are many constant features associated with it as well as rarer features. Increased proliferation of the fibroblast and dysregulation of matrix protein play a central role in the pathogenesis of the disease.  They are diagnosed primarily on clinical and radiological grounds. Histopathology plays a supportive role in the diagnosis. Such a case has to be differentiated from several other conditions like acromegaly, neurofibroma,,myxedema, primary systemic amyloidosis as wel as from other causes of digital clubbing. The case which is described here is a complete form of  PDP which is a rare disease reported in Indian context and that too with the a rarer presentation of  spiky palmoplanter keratoderma and severe mechanical ptosis  leading to severe visual impairment which was corrected after surgical manipulation of the ptosis.   DOI: http://dx.doi.org/10.3126/njdvl.v12i1.10603 Nepal Journal of Dermatology, Venereology & Leprology Vol.12(1) 2014 pp.48-52   
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institution Kabale University
issn 2091-0231
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language English
publishDate 2016-01-01
publisher Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)
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series Nepal Journal of Dermatology, Venereology & Leprology
spelling doaj-art-fbea5c1fbf7c40af8dac08c20e5bd5892025-08-24T10:06:43ZengSociety of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)Nepal Journal of Dermatology, Venereology & Leprology2091-02312091-167X2016-01-01121Pachydermoperiostosis And An Eyelid Ptosis Associated With Spiky Keratoderma – An Unusual PresentationS Das0S Chakraborty1NS Sarkar2Assosciate Professor, Department of Dermatology NRS Medical College and HospitalRMO, Department of Dermatology, NRS Medical College and Hospital, KolkataAssistant Professor, Department of Ophthalmology, NRS Medical College and Hospital, Kolkata Pachydermoperiostosis, ( PDP), a rare hereditary disorder that is characterized by digital clubbing, pachydermia, subperiosteal new bone formation, associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis.  It mainly presents due to disfiguring facial features, widening of the limbs and bone and joint pain. It affects male population predominantly and transmitted as an autosomal dominant trait. There are many constant features associated with it as well as rarer features. Increased proliferation of the fibroblast and dysregulation of matrix protein play a central role in the pathogenesis of the disease.  They are diagnosed primarily on clinical and radiological grounds. Histopathology plays a supportive role in the diagnosis. Such a case has to be differentiated from several other conditions like acromegaly, neurofibroma,,myxedema, primary systemic amyloidosis as wel as from other causes of digital clubbing. The case which is described here is a complete form of  PDP which is a rare disease reported in Indian context and that too with the a rarer presentation of  spiky palmoplanter keratoderma and severe mechanical ptosis  leading to severe visual impairment which was corrected after surgical manipulation of the ptosis.   DOI: http://dx.doi.org/10.3126/njdvl.v12i1.10603 Nepal Journal of Dermatology, Venereology & Leprology Vol.12(1) 2014 pp.48-52    https://nepjol.info/index.php/NJDVL/article/view/10603KeratodermaPachydermoperiostosisPtosis
spellingShingle S Das
S Chakraborty
NS Sarkar
Pachydermoperiostosis And An Eyelid Ptosis Associated With Spiky Keratoderma – An Unusual Presentation
Nepal Journal of Dermatology, Venereology & Leprology
Keratoderma
Pachydermoperiostosis
Ptosis
title Pachydermoperiostosis And An Eyelid Ptosis Associated With Spiky Keratoderma – An Unusual Presentation
title_full Pachydermoperiostosis And An Eyelid Ptosis Associated With Spiky Keratoderma – An Unusual Presentation
title_fullStr Pachydermoperiostosis And An Eyelid Ptosis Associated With Spiky Keratoderma – An Unusual Presentation
title_full_unstemmed Pachydermoperiostosis And An Eyelid Ptosis Associated With Spiky Keratoderma – An Unusual Presentation
title_short Pachydermoperiostosis And An Eyelid Ptosis Associated With Spiky Keratoderma – An Unusual Presentation
title_sort pachydermoperiostosis and an eyelid ptosis associated with spiky keratoderma an unusual presentation
topic Keratoderma
Pachydermoperiostosis
Ptosis
url https://nepjol.info/index.php/NJDVL/article/view/10603
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AT schakraborty pachydermoperiostosisandaneyelidptosisassociatedwithspikykeratodermaanunusualpresentation
AT nssarkar pachydermoperiostosisandaneyelidptosisassociatedwithspikykeratodermaanunusualpresentation