Results 31 to 40 of about 6,707,637 (199)

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   +13 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

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

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni   +3 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 jaw cysts-unveiling the Gorlin-Goltz syndrome

open access: yesContemporary Clinical Dentistry, 2015
Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria.
S Manjima   +3 more
doaj   +1 more source

Paediatric Melanonychia: Diagnosis and Management

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Longitudinal melanonychia (LM) in children presents unique diagnostic and management challenges that cannot be adequately addressed by applying adult‐based criteria. Unlike in adults, there are no validated clinical, dermoscopic or histopathologic criteria for predicting nail unit melanoma in the paediatric population.
Angela J. Jiang   +5 more
wiley   +1 more source

A Rare Case of Gorlin-Goltz Syndrome in Children

open access: yesCase Reports in Dentistry, 2019
The Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome is an autosomal dominant condition disorder with high variability expression.
Fernanda Brasil Daura Jorge Boos Lima   +6 more
doaj   +1 more source

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