Gorlin-Goltz (GS) syndrome is an autosomal dominant disease linked to a mutation in the PTCH gene. Major criteria include the onset of multiple basal cell carcinoma (BCC), keratocystic odontogenic tumours in the jaws and bifid ribs. Dermoscopy and reflectance confocal microscopy represent imaging tools that are able to increase the diagnostic accuracy of skin cancer in a totally noninvasive manner, without performing punch biopsies. Here we present a case of a young woman in whom the combined approach of dermoscopy and RCM led to the identification of multiple small inconspicuous lesions as BCC and thus to the diagnosis of GS syndrome.
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http://dx.doi.org/10.1111/ajd.12440 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
HHMI, The University of Texas at Austin, Austin, TX 78712.
Dynamic control of signaling events requires swift regulation of receptors at an active state. By focusing on the Arabidopsis ERECTA (ER) receptor kinase, which perceives peptide ligands to control multiple developmental processes, we report a mechanism preventing inappropriate receptor activity. The ER C-terminal tail (ER_CT) functions as an autoinhibitory domain: Its removal confers higher kinase activity and hyperactivity during inflorescence and stomatal development.
View Article and Find Full Text PDFDev Dyn
January 2025
Department of Human Anatomy, College of Basic Medical Sciences, Jilin University, Changchun, China.
Background: Previous studies with Gfi1-mutated lines have shown that Gfi1 is essential for hair cell maturation and survival.
Results: We analyzed the phenotype of another Gfi1-mutated line Gfi1 in the inner ears of neonates at P5-7 and found that the cochlea phenotypically differed from the vestibule in the Gfi1 mouse. Specifically, there was a marked reduction in hair cells in the cochlea, which was characterized by greater reductions in the outer hair cells but far less reductions (mainly in the basal turn) in the inner hair cells, whereas the vestibular hair cells remained unaffected.
Cureus
December 2024
Department of Urology, Ehime University Graduate School of Medicine, Toon, JPN.
Background The accurate diagnosis of intraductal carcinoma of the prostate (IDC-P) is occasionally challenging due to the similarity in pathological morphology between IDC-P and high-grade prostatic intraepithelial neoplasia (HGPIN). In this report, we reviewed the pathology of cases previously diagnosed as HGPIN to search for IDC-P cases effectively. In addition, we examined whether those cases had genetic abnormalities.
View Article and Find Full Text PDFFront Immunol
January 2025
Tianjin Institute of Urology, The Second Hospital of Tianjin Medical University, Tianjin, China.
As an antibody-drug conjugate (ADC), disitamab vedotin (RC48) is a promising treatment targeting ERBB2 for locally advanced and metastatic bladder cancer (BLCA). However, the subtype heterogeneity of muscle-invasive bladder cancer (MIBC) often leads to different therapeutic outcomes. In our study, we aim to explore sensitivity differences and mechanisms of different molecular subtypes of MIBC to RC48 treatment and develop a strategy for combination therapy against cancer.
View Article and Find Full Text PDFFront Oncol
January 2025
Department of Dermatovenereology, Chengdu Second People's Hospital, Chengdu, Sichuan, China.
Nevus sebaceous (NS) is a congenital hamartoma characterized by the presence of skin structures, including the epidermis, sebaceous glands, and hair follicles. NS predominantly occurs on the scalp and has the potential to give rise to secondary tumors, with a small proportion being malignant; the most frequently observed malignant tumor associated with NS is basal cell carcinoma. In this report, we retrospectively present four cases of sebaceous nevus on the scalp complicated by basal cell carcinoma.
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