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Case Report

8 Citations

10,539 Views

10 Pages

Sacral Dimple, Conjunctiva, and Nipple as Less Obvious Pemphigus Vulgaris Locations around Natural Body Orifices: A Report of Three Cases

Magdalena Jałowska,
Justyna Gornowicz-Porowska,
Monika Bowszyc-Dmochowska and
Marian Dmochowski

J. Clin. Med.2022, 11(10), 2855;https://doi.org/10.3390/jcm11102855

18 May 2022

In this paper, we present our own clinical-laboratory experience concerning three less obvious presentations of pemphigus vulgaris (PV) and discuss the pertinent literature. The involvement of the sacral dimple reported here for the first time, as we...

(This article belongs to the Special Issue Current Concept and Emerging Treatments in Autoimmune Bullous Skin Disorders)

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Case Report

1 Citations

1,570 Views

14 Pages

NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature

Gioia Mastromoro,
Claudio Dello Russo,
Stefania Mariani,
Serena Bucossi,
Riccardo Riccardi,
Amit Pal,
Rosanna Squitti,
Mehak Dangi,
Antonio Pizzuti and
Mauro Ciro Antonio Rongioletti

Diagnostics2025, 15(18), 2289;https://doi.org/10.3390/diagnostics15182289

10 September 2025

Background and Clinical Significance: Neural tube defects (NTDs) represent a group of malformations, typically arising from a complex interplay between genetic susceptibility and environmental influences. Increasing evidence points to the contributio...

(This article belongs to the Section Pathology and Molecular Diagnostics)

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