Results 31 to 40 of about 4,068 (202)

Polypoid basal cell carcinoma: A scoping review

open access: yesDermatologica Sinica, 2022
Polypoid basal cell carcinoma (BCC) is characterized by a stalk connecting the tumor and skin surfaces, with neoplastic cells restricted in the polypoid zone microscopically. A thorough review of polypoid BCC is still lacking.
Po-Chien Wu   +5 more
doaj   +1 more source

Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome [PDF]

open access: yes, 2023
Basal cell nevus syndrome (BCNS) is a rare genetic disorder accompanied by a broad variety of tumours, of which basal cell carcinomas and odontogenic keratocysts are the most common. BCNS is caused by a germline or postzygotic mutation in either PTCH1 or
van Geel, Michel   +6 more
core   +1 more source

A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report

open access: yesHuman Genome Variation, 2023
Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1 with complete penetrance and variable expressivity characterized by a broad spectrum of developmental ...
Parisa Mashayekhi   +3 more
doaj   +1 more source

Gorlin–Goltz syndrome: Happenstance finding- A case report

open access: yesSRM Journal of Research in Dental Sciences, 2021
Gorlin–Goltz syndrome (GGS), due to its sparse occurrence in various populations along with the variety of associated signs and symptoms, very often becomes a missed diagnosis.
Khooshbu Gayen   +4 more
doaj   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston   +6 more
wiley   +1 more source

Identification of Mutations in the Human PATCHED Gene in Sporadic Basal Cell Carcinomas and in Patients with the Basal Cell Nevus Syndrome

open access: yes, 1998
Mutations in PATCHED (PTC), the human homolog of the Drosophila patched gene, have been identified in most exons of the gene in patients with the basal cell nevus syndrome and in sporadic basal cell carcinomas.
Fisher, Monte   +8 more
core   +1 more source

Advanced basal cell carcinomas appear preferentially on the scalp of patients with Basal Cell Carcinoma Nevus Syndrome [PDF]

open access: yes, 2016
Basal Cell Carcinoma Nevus Syndrome is a rare condition in which patients need to meet certain major or minor diagnostic criteria or test positive for chromosome 9 or PTCH1 mutations to be diagnosed.
Updyke, Katelyn   +2 more
core   +1 more source

Cutaneous Pigmentary Changes During Setmelanotide Therapy: Dermoscopic and Confocal Findings in Two Patients

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4 receptor agonist approved for the treatment of rare forms of genetic obesity. Through off‐target activation of the melanocortin‐1 receptor, it may induce cutaneous pigmentation changes; however, data regarding its effects on melanocytic nevi remain limited.
Martina Cavicchi   +5 more
wiley   +1 more source

A Rare Case of Checkerboard-Like Becker Nevi with a Unique Distribution of Abnormalities

open access: yesCase Reports in Dermatological Medicine, 2019
Becker nevus syndrome refers to a rare disorder comprising the typical pigmented lesion and its associated developmental abnormalities. Becker nevus itself is typically localized on the upper trunk, scapular or upper arm unilaterally; however, it can ...
Chanidapa Wongtada   +2 more
doaj   +1 more source

Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report

open access: yesContemporary Clinical Dentistry, 2014
Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the ...
Gayithri Harish Kulkarni   +4 more
doaj   +1 more source

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