Results 31 to 40 of about 740 (177)

Bilateral Ptosis Due to a Rare Cause-Pachydermoperiostosis [PDF]

Journal of Clinical and Diagnostic Research, 2013
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).
Mahesh M, K V K S N Murthy
doaj   +1 more source

Pachydermoperiostosis in childhood [PDF]

Rheumatology, 1997
We report a family with pachydermoperiostosis (idiopathic hypertrophic osteoarthropathy) spanning four generations with 10 affected individuals, four of whom are children although pachydermoperiostosis is rare in childhood. In this family, with intermarriage, the inheritance is autosomal recessive and it is possible that there are individuals who are ...
G P, Sinha, P, Curtis, D, Haigh, G T, Lealman, W, Dodds, C P, Bennett   +5 more
openaire   +2 more sources

Pachydermoperiostosis Mimicking Inflammatory Arthritis: Case Description and Narrative Review

Rheumato, 2023
Pachydermoperiostosis (PDP), also called primary hypertrophic osteoarthropathy (HOA), is a rare genetic disease with typical thickening of the skin (pachydermia) and rheumatic manifestations, with clubbing of the fingers and toes and periostosis of the ...
AKM Kamruzzaman, Maisha Farzana, Md Mainuddin Sohel, Emrul Kaiser, Nobendu Chowdhury, Md Hafizur Rahman, Syed Atiqul Haq, Johannes J. Rasker   +7 more
doaj   +1 more source

Pseudoacromegaly in pachydermoperiostosis [PDF]

BMJ Case Reports, 2016
A 19-year-old male patient presented with a year-long history of progressive painful enlargement of his hands and feet associated with excessive sweating and greasiness of the face, palms and soles. He also noticed pain over his wrists and ankles without any symptoms suggestive of raised intracranial tension and no recent increase in height.
Partha Pratim, Chakraborty, Rana, Bhattacharjee, Satinath, Mukhopadhyay, Subhankar, Chowdhury   +3 more
openaire   +2 more sources

Coexistence of Touraine-Solente-Gole syndrome and type 1 neurofibromatosis: A case report

Turkderm Turkish Archives of Dermatology and Venereology, 2021
Pachydermoperiostosis is a rare syndrome that affects the skin and skeletal system. Mutations in the gene encoding hydroxyprostaglandin dehydrogenase (HPGD) are thought to play a role in disease etiopathogenesis.
Selma Korkmaz, Hakan Korkmaz, İjlal Erturan, Havva Hilal Ayvaz, Kuyaş Hekimler Öztürk, Mehmet Yıldırım   +5 more
doaj   +1 more source

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

JCRPE, 2022
Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis.
Emine Kartal Baykan, Ayberk Türkyılmaz
doaj   +1 more source

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

Systematic exploration of eczema‐associated paediatric diseases in a Chinese population of millions: A retrospective observation study

Clinical and Translational Allergy, Volume 13, Issue 5, May 2023., 2023
Abstract Background Eczema is the most common form of dermatitis and also the starting point of atopic march. Although many eczema‐associated allergic and immunologic disorders have been studied, there remains a gap in the systematic quantitative knowledge regarding the relationships between all childhood disorders and eczema.
Huiwen Zheng, Jian Yang, Yuqing Feng, Huilong Duan, Lizhong Du, Qiang Shu, Haomin Li   +6 more
wiley   +1 more source

Cutis verticis gyrata: Three cases illustrating three different etiologies

Clinical Case Reports, Volume 10, Issue 5, May 2022., 2022
Cutis verticis gyrata is a rare neurocutaneous syndrome with mainly anesthetic impact. A rigorous clinical examination with a minimal workup is required to eliminate a secondary or a primary non‐essential form and to assess interdisciplinary management.
Amal Chamli, Meriem Jones, Takwa Bacha, Noureddine Litaiem, Faten Zeglaoui   +4 more
wiley   +1 more source

Pachydermoperiostosis and bladder cancer [PDF]

, 2015
Pachydermoperiostosis or the Touraine-Soulente-Golé syndrome is a rare monogenetic disorder characterized by pachydermia, periostosis and digital clubbing accounts for approximately 3∼5% of all patients with hypertrophic osteoarthropathy.
Stasolla, Alessandro, Famularo, Guiseppe, Gasbarrone, Laura   +2 more
core   +1 more source