Results 41 to 50 of about 4,068 (202)

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

JEADV 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, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

A Rare Case of Gorlin-Goltz Syndrome in Children

Case 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, Ana Paula Cota Viana, Luciano Henrique Ferreira Lima, Bruna Campos Ribeiro, Carlos Eduardo Assis Dutra, Glaykon Alex Vitti Stabile, Sergio Monteiro Lima Junior   +6 more
doaj   +1 more source

Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

Contemporary 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, Zameera Naik, Vaishali Keluskar, Anjana Bagewadi   +3 more
doaj   +1 more source

Ruptured and Inflamed Epidermal Inclusion Cyst of Tongue- A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2018
Epidermal inclusion cyst (EIC) is rare in head and neck region with incidence in oral cavity being less than 0.01%, presenting as congenital or as acquired lesions. Clinically patient presents with dysphagia, difficulty in breathing and may be associated
Nishant Sagar, Prerna Arora, Nita Khurana, JC Passey   +3 more
doaj   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome

Dermatology Reports, 2011
Tumor responses in advanced basal cell carcinoma (BCC) have been observed in clinical trials with vismodegib, a SMO antagonist. The result of SMO antagonism is inhibition Hedgehog Signaling Pathway (HHSP) downstream target genes. HHSP inhibition has been
Glen J. Weiss, Raoul Tibes, Lisa Blaydorn, Gayle Jameson, Molly Downhour, Erica White, Ivor Caro, Daniel D. Von Hoff   +7 more
doaj   +1 more source

Rare Secondary Neoplasms Arising in Epidermal Nevus: A Case Series and Literature Review

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Malignant transformation is known to occur with many nevi, such as nevus sebaceus. However, cases of secondary tumors developing in an epidermal nevus (EN) are rare, with only a few case reports documented in the literature. We present three unique cases of syringocystadenoma papilliferum (SCAP), syringofibroadenoma, trichilemmoma, and basal ...
Haya A. Homsi, Melissa Piliang, Jennifer Lucas, Jennifer S. Ko, Steven D. Billings, Shira Ronen   +5 more
wiley   +1 more source

Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS) [PDF]

, 2011
The first international colloquium on basal cell nevus syndrome (BCNS) was held at Saint Louis University School of Medicine and supported by the Basal Cell Carcinoma Nevus Syndrome (BCCNS) Life Support Network (www.gorlinsyndrome.org). The foremost goal
Group, for the BCNS Colloquium, Shah, Maulik R, Bree, Alanna F   +2 more
core   +1 more source

Dermatologic Toxicities Associated With Novel Pan‐RAS/RAF Inhibitors

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Background The mitogen‐activated protein kinase (MAPK) pathway plays a key role in cell‐cycle regulation and tumor progression in cancer. Dermatologic toxicities (DTs) to newer pan‐RAS (RMC‐6236) and pan‐RAF (LXH254/naporafenib) inhibitors are emerging.
Lin J. He, Shaymaa Hegazy, Phyu P. Aung, Priyadharsini Nagarajan, Fiorinda Muhaj, Adrienne N. Choksi, Ana M. Ciurea, Kelly C. Nelson, Doina Ivan, Carlos A. Torres‐ Cabala, Victor G. Prieto, Jonathan L. Curry   +11 more
wiley   +1 more source

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

, 2005
Basal cell nevus syndrome (Gorlin syndrome) is an autosomal dominant disorder characterized by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational ...
Kreiborg, S., L.A. Larsen, Boonen, S., S.E. Boonen, S. Kreiborg, K. Brøndum‐Nielsen, Rosenberg, T., Tommerup, N., Kalscheuer, V., Stahl, D., T. Rosenberg, Z. Tümer, Brondum-Nielsen, K., N. Tommerup, Tumer, Z., V. Kalscheuer, Larsen, L., D. Stahl   +17 more
core   +1 more source