Results 101 to 110 of about 5,018,411 (238)

A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome

SAGE Open Medical Case Reports
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic is a rare, autoinflammatory disorder caused by a somatic mutation of ubiquitin-activating enzyme 1.
Anne-Sophie Groleau, Alex Derstenfeld, Steffany Poupart, Isabelle Marcil   +3 more
doaj   +1 more source

Cutaneous involvement by myeloid leukaemias: challenging cases with important implications

Histopathology, EarlyView.
Myeloid leukaemias and precursors involving the skin are often challenging to diagnose with varied and overlapping clinical and histopathologic features. Nonetheless, they are critical for pathologists to recognize and accurately classify. This review discusses the clinical, histopathological and genetic features of myelodysplasia cutis (A) and ...
Alexandra C. Hristov
wiley   +1 more source

Comprehensive clinical phenotype, genotype and therapy in Yao syndrome

Frontiers in Immunology
ObjectiveYao syndrome (YAOS) is formerly called nucleotide-binding oligomerization domain containing 2 (NOD2)-associated autoinflammatory disease.We report a large cohort of YAOS.MethodsWe conducted a retrospective analysis of a cohort of adult patients ...
Hafsa Nomani, Song Wu, Ashmia Saif, Frank Hwang, Jane Metzger, Brianne Navetta-Modrov, Peter D. Gorevic, Ivona Aksentijevich, Qingping Yao   +8 more
doaj   +1 more source

A Real‐Life, Multicenter, Retrospective Study on Epidemiological and Clinical Features of Patients With Hidradenitis Suppurativa and Concomitant Down Syndrome

International Journal of Dermatology, EarlyView.
Summary of the clinical characteristics and 2‐year follow‐up of patients with HS and concomitant DS in a multicentre Italian cohort, highlighting earlier HS onset, clinical features, and improved disease severity, quality of life, and pain over follow‐up, supporting early screening and multidisciplinary care of this special population.
Chiara Moltrasio, Luisa Sarno, Giovanni Genovese, Federica Derlino, Dalma Malvaso, Valeria Gaspari, Marina Venturini, Federica Repetto, Gianluca Avallone, Simone Ribero, Elisa Molinelli, Oriana Simonetti, Alessandra Michelucci, Marco Romanelli, Valentina Dini, Marco Manfredini, Cristina Magnoni, Caterina Foti, Silvia Sanna, Laura Atzori, Federico Bardazzi, Riccardo Balestri, Giulia Rech, Paolo Gisondi, Raffaele Dante Caposiena Caro, Iris Zalaudek, Viviana Lora, Luca Fania, Elia Rosi, Stefano Buffon, Carlo Alberto Maronese, Alessandra Cartocci, Pietro Rubegni, Francesca Prignano, Angelo Valerio Marzano   +34 more
wiley   +1 more source

Emerging Roles of PSTPIP2 in Autoimmunity: From Mechanism to Therapeutic Implications

Immunology, EarlyView.
PSTPIP2 acts as a key brake on myeloid inflammation by suppressing IL‐1β‐driven signalling, macrophage dysregulation and inflammation‐associated bone remodelling. Its emerging roles in CRMO/CMO, rheumatoid arthritis, SAPHO syndrome and bullous pemphigoid support its potential as a biomarker and therapeutic target.
Erdong Zhang, Fengyu Liu, Yongle Wei, Guoqiang Li, Liujie Zheng, Lin Jin, Feng Luan, Yingze Zhang, Ling Wang, Zhiyong Hou   +9 more
wiley   +1 more source

Genomic and proteomic insights into hidradenitis suppurativa

Journal of the European Academy of Dermatology and Venereology, EarlyView.
A dual pathogenic model of HS involving both epithelial dysfunction and systemic inflammation is supported. The HLA‐DRA association hints at autoimmune overlap, but the proteomic signature which is dominated by innate immune mediators favours an autoinflammatory classification, which may guide future therapeutic strategies and patient stratification ...
Maria Argyropoulou, Emmanouil Stylianakis, Isis Ricaño‐Ponce, Nick Keur, Theodora Kanni, Dimitra Stergianou, Mihai G. Netea, Vinod Kumar, Evangelos J. Giamarellos‐Bourboulis   +8 more
wiley   +1 more source

Management of chronic urticaria: Current status and future prospect

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Chronic urticaria is driven by mast cell activation through autoimmune, inflammatory, and neuroimmune pathways. A structured approach combining diagnosis, patient‐reported outcomes, stepwise therapy, treatment optimization, monitoring and emerging targeted agents may improve disease control and enable more personalized management.
Andaç Salman, Mona Al‐Ahmad, Maryam Al‐Nesf, Chia‐Yu Chu, Luis Felipe Ensina, Ana M. Gimenez‐Arnau, Margarida Gonçalo, Clive Grattan, Michihiro Hide, Pavel Kolkhir, Martin Metz, Iman Nasr, Romi Saini, Simon Francis Thomsen, Torsten Zuberbier, Emek Kocaturk   +15 more
wiley   +1 more source

Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease

, 2020
Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition, clinically characterized by boiled cysts, comedones, abscesses, hypertrophic scars, and/or sinus tracts typically in the apocrine-gland-rich areas such as the axillae, groin, and/or ...
Nomura, Toshifumi
core   +1 more source

European S2k guidelines for hidradenitis suppurativa/acne inversa Part 1. Epidemiology, diagnosis and clinical assessment

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Updated S2k hidradenitis suppurativa (HS) guidelines provide expert consensus on diagnosis, assessment and comorbidities. Expanded substantially since the 2015 version, they reflect rapid growth in HS literature and aim to improve generalist‐level patient care through evidence‐informed, consensus‐based guidance.
G. B. E. Jemec, B. Villumsen, K. R. van Straalen, H. H. van der Zee, S. Valiukevičienė, T. Tzellos, J. C. Szepietowski, A. Szegedi, D. M. L. Saunte, M. Romanelli, H. Raynal, F. Prignano, E. P. Prens, M. Podda, A. Nassif, A. Molina‐Leyva, Ł. Matusiak, A. V. Marzano, B. M. McGrath, A. I. Liakou, B. Kirby, L. Kemény, E. Just, D. Ioannidis, J. R. Ingram, R. E. Hunger, B. Horváth, P. Guillem, Ø. Grimstad, E. J. Giamarellos‐Bourboulis, M. Dolenc‐Voljč, V. Del Marmol, Z. Bukvić Mokos, V. Bettoli, F. Benhadou, F. G. Bechara, C. C. Zouboulis   +36 more
wiley   +1 more source

[Monogenic autoinflammatory uveitis].

International audienceMonogenic autoinflammatory uveitis belongs to the spectrum of monogenic autoinflammatory diseases. When early-onset uveitis is associated with specific extra-ocular manifestations, particularly in a familial or geographical context,
Sève, Pascal, Lequain, Hippolyte, Meunier, Isabelle, Jamilloux, Yvan, Kodjikian, Laurent   +4 more
core   +1 more source