Results 41 to 50 of about 6,989 (157)

Cutis verticis gyrata

open access: yesDermatology Online Journal, 2003
An 82-year-old man had deep, linear skin folds on the scalp. The patient did not have a history of neuropsychiatric disorders and was generally in good health except for diabetes mellitus, hypertension, and benign positional vertigo. Cutis verticis gyrata is a term used to describe the appearance of deep, linear skin folds in the scalp.
E, Makhoul, N, Ayoub, R, Tomb
openaire   +6 more sources

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

open access: yesTurkderm 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

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 182, Issue 3, Page 570-575, March 2020., 2020
Abstract Cohen syndrome (CS) is a rare autosomal recessive disorder associated with mutations in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. The core clinical phenotype comprises a characteristic facial gestalt, marked developmental delay, and myopia.
Katrin Koehler   +5 more
wiley   +1 more source

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

CUTIS VERTICIS GYRATA (UNNA) [PDF]

open access: yesArchives of Dermatology and Syphilology, 1922
It was recently my good fortune to see and study a case of this rare anomaly of the scalp. In looking over the literature on the subject, I found that in all about thirty cases have been reported. The majority have been recorded in the German literature, three in the French, and one in the American.
openaire   +2 more sources

Bulldog Scalp Syndrome

open access: yesIndian Journal of Plastic Surgery, 2023
Bulldog scalp syndrome or cutis verticis gyrata (CVG) is a rare cutaneous disorder with an incidence of just 0.026 to 1 per 100,000 population and cosmetic problems should not be ignored as they can affect the quality of life of patients in social and ...
Mohd Altaf Mir   +5 more
doaj   +1 more source

Deletion Involving the 7q31‐32 Band at the CADPS2 Gene Locus in a Patient with Autism Spectrum Disorder and Recurrent Psychotic Syndrome Triggered by Stress

open access: yesCase Reports in Psychiatry, Volume 2017, Issue 1, 2017., 2017
Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by impairments in social functioning, language, communication, and behavior. Recent genome‐wide association studies show some microdeletions on the 7q31‐32 region, including the CADPS2 locus in autistic patients.
Paulo André Pera Grabowski   +6 more
wiley   +1 more source

Bone Research Society 2021 Abstracts

open access: yes, 2021
JBMR Plus, Volume 5, Issue S5, November 2021.
wiley   +1 more source

Cutis verticis gyrata associated with drug-resistant epilepsy: A case report and review of the literature

open access: yesActa Neurológica Colombiana
Introduction. Cutis verticis gyrata is an uncommon benign dermatological disorder characterised by hypertrophic scalp folds resembling cerebral gyri.
Paula Valentina Gaete Carrillo   +2 more
doaj   +1 more source

Cutis verticis gyrata.

open access: yesIndian pediatrics, 2012
A 21-year-old man presented with scalp changes that had begun 2 years ago. Physical examination revealed excessive growth of the scalp, with the formation of convoluted folds and furrows in a cerebriform pattern.
K, Nayek, A, Banerjee, S, Pati
openaire   +3 more sources

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