Results 21 to 30 of about 944 (190)
Ibom Medical Journal, 2023 Pachydermoperiostosis (PDP) is a rare genodermatosis with prominent cutaneous, soft tissue and skeletal manifestations. It can mimic secondary causes of hypertrophic osteoarthropathy such as thyroid acropachy.
Ajani AA +5 more
doaj +1 more source
JEADV Clinical PracticeJEADV Clinical Practice, Volume 4, Issue 1, Page 277-280, March 2025.
Tomoya Takegami +13 more
doaj +2 more sources
Complete form of pachydermoperiostosis in a 16-year-old boy: A case report
Indian Journal of Paediatric Dermatology, 2022 Pachydermoperiostosis is an inherited osseocutaneous disorder. The unusual increased levels of prostaglandin E2 due to mutations in either HPGD gene or SLCO2A1 gene are regarded as the causative factor.
Sahana M Srinivas +3 more
doaj +1 more source
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
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 +20 more
wiley +1 more source
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 +5 more
doaj +1 more source
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 +6 more
wiley +1 more source
Cutis verticis gyrata in a patient with multiple basal cell carcinomas; case presentation and review of the literature [PDF]
, 2016 Cutis verticis gyrata is a rare disease characterized by convoluted folds and deep furrows of the scalp, resembling the gyri and sulci of the cerebral cortex.
Benea, Vasile +6 more
core +4 more sources
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 +4 more
wiley +1 more source
Journal of Medical Case Reports, 2018 Background Primary hypertrophic osteoarthropathy also known as pachydermoperiostosis is a rare genetic disorder that has often been confused with acromegaly because of similar clinical features.
Yacoba Atiase +6 more
doaj +1 more source