Results 31 to 40 of about 1,595 (202)

Look Outside the Brain: Incidentally Detected Cutis Verticis Gyrata. [PDF]

open access: yesClin Case Rep
ABSTRACT Cutis verticis gyrata (CVG) is a rare dermatological condition characterized by thickened and folded scalp skin, often discovered incidentally during neuroimaging for unrelated issues. Clinicians should remain vigilant and consider a multidisciplinary approach to recognize and manage potential comorbidities, emphasizing the importance of a ...
Devkota S, Bhatta OP.
europepmc   +2 more sources

Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis. [PDF]

open access: yesIndian J Med Res, 2023
Pasumarthi D   +5 more
europepmc   +2 more sources

Pachydermoperiostosis mimicking the acral abnormalities of acromegaly. [PDF]

open access: yesEndocrine, 2020
Marques P   +4 more
europepmc   +3 more sources

Complete form of pachydermoperiostosis in a 16-year-old boy: A case report

open access: yesIndian 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]

open access: yesJournal 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

open access: yesAmerican 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

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

open access: yesClinical 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: Three cases illustrating three different etiologies

open access: yesClinical 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

Cutis verticis gyrata in a patient with multiple basal cell carcinomas; case presentation and review of the literature [PDF]

open access: yes, 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

Case report: Schizophrenia and hypertrophic osteoarthropathy, a rare syndrome hiding a life‐threatening condition

open access: yesClinical Case Reports, Volume 10, Issue 1, January 2022., 2022
Schizophrenia is associated to somatic diseases. We describe an association with hypertrophic osteoarthropathy (HPO). It is a rare clinical entity but it could be a paraneoplastic syndrome hiding a life‐threatening condition. Abstract Schizophrenia is associated to somatic disorders especially cardio‐vascular and auto‐immune.
Emna Baklouti   +3 more
wiley   +1 more source

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