Citations 2
Skin Manifestations of Hereditary Cancer Syndromes: A Clinicopathologic Review
Colbert, Michelle D. , Mittal, Setu , Ghebrehiwet-Kuflom, Johanna, Mohandesi, Nessa A., Aghazadeh, Nessa , Aghazadeh Mohandesi, Nessa , Mittal, Setu , Lehman, Julia S. , Erickson, Lori A.
Advances in Anatomic Pathology | April 14, 2026 | Volume: 33 | Issue: 4 | Pages: 304-330
The focus of this review is the clinical and pathologic presentations of hereditary cancer syndromes with cutaneous manifestations, with the goal of providing a reference for the multidisciplinary care teams involved in the diagnosis and management of these conditions. Advancements in genomics have led to newly recognized syndromes and a deeper understanding of established syndromes. We focus on those with the most relevant cutaneous manifestations. Clinical and histopathologic images provide visual context for these findings, many of which are rare. We summarize the established literature and incorporate new research and noteworthy case reports.
Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings
Hines, Alexander , Mohandesi, Nessa A., Lehman, Julia S. , Mangaonkar, Abhishek A. , Patnaik, Mrinal M. , Sartori‐Valinotti, Julio C. , Aghazadeh, Nessa , Hines, Alexander S , Cantwell, Hafsa M. , Sartori-Valinotti, Julio C., Lehman, Julia S , Aghazadeh Mohandesi, Nessa , Koster, Matthew J. , Alavi, Afsáneh , Warrington, Kenneth J. , Go, Ronald S.
International Journal of Dermatology | March 9, 2023 | Volume: 62 | Issue: 7 | Pages: 938-945
AbstractBackgroundVEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome is an autoinflammatory disease with frequent cutaneous manifestations.MethodsWe conducted a retrospective study of all patients with genetically confirmed VEXAS syndrome seen at our institution. Available clinical photographs and skin biopsy slides were reviewed.ResultsCutaneous manifestations developed in 22/25 (88%) patients with VEXAS syndrome. From this group, 10/22 (45%) developed skin involvement before or at the time of other clinical features of VEXAS. Twenty distinct dermatologic presentations of VEXAS from 14 patients were reviewed, and histopathologic patterns were classified as follows: neutrophilic urticarial dermatosis (n = 5, 25%), leukocytoclastic/urticarial vasculitis (n = 4, 20%), urticarial tissue reaction (n = 4, 20%), neutrophilic dermatosis (n = 3, 15%), neutrophilic panniculitis (n = 2, 10%), and nonspecific chronic septal panniculitis (n = 2, 10%). Common systemic findings included macrocytic anemia (96%), fever (88%), thrombocytopenia (76%), weight loss (76%), ocular inflammation (64%), pulmonary infiltrates (56%), deep venous thrombosis or pulmonary embolism (52%), and inflammatory arthritis (52%).ConclusionsCutaneous involvement is a common feature of VEXAS syndrome, and histopathologic findings exist on a spectrum of neutrophilic inflammatory dermatoses.