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JAMA Dermatology Nov 2021VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described severe adult-onset autoinflammatory disease that is associated with myeloid...
IMPORTANCE
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described severe adult-onset autoinflammatory disease that is associated with myeloid lineage-restricted ubiquitin-activating enzyme 1 (UBA1) somatic variations that primarily affect the skin (Sweet syndrome), cartilage, and bone marrow. Skin symptoms have been poorly described.
OBJECTIVE
To better describe clinical and pathological skin manifestations and their pathophysiology in VEXAS syndrome.
DESIGN, SETTING, AND PARTICIPANTS
This multicenter retrospective case series study of clinical and histological features of 8 patients with VEXAS syndrome and skin involvement was conducted in France from December 2007 to March 2021, with molecular data obtained from March to April 2022. Any UBA1 variations were detected by Sanger or next-generation sequencing that was performed on bone marrow and formalin-fixed paraffin-embedded tissue sections of skin lesion biopsies.
RESULTS
All 8 patients were men, and the median age at symptom onset was 65.5 years (interquartile range, 54-76 years). All patients had neutrophilic dermatosis skin lesions, including tender red or violaceous papules, sometimes edematous, without fever, arthralgia, recurrence or pathergy, inflammatory edematous papules on the neck and trunk (sometimes umbilicated), and firm erythematous purpuric or pigmented infiltrated plaques and nodules. Three patients had livedo racemosa. The infiltrates were perivascular and consisted of mature neutrophils with leukocytoclasia, which were admixed with myeloperoxidase-positive CD163-positive myeloid cells with indented nuclei and lymphoid cells in all cases. A sequencing analysis of paired bone marrow samples and skin lesion biopsies identified the same loss-of-function UBA1 variation in both samples for all patients.
CONCLUSIONS AND RELEVANCE
This case series study describes the different clinical presentations of skin lesions found in VEXAS syndrome, which is characterized histologically by neutrophilic dermatosis. The findings suggested that the dermal infiltrates seen in VEXAS skin lesions are derived from the pathological myeloid clone. This suggests that using therapies that target the pathological clone may be effective in the long-term management of the disease.
Topics: Adult; Bone Marrow; Humans; Male; Mutation; Retrospective Studies; Sweet Syndrome; Ubiquitin-Activating Enzymes
PubMed: 34495287
DOI: 10.1001/jamadermatol.2021.3344 -
Indian Journal of Hematology & Blood... Jul 2022
PubMed: 35747570
DOI: 10.1007/s12288-021-01514-w -
International Journal of Molecular... Mar 2020Skin manifestations of systemic disease and malignancy are extremely polymorphous. Clinicians should be familiarized with paraneoplastic dermatoses in order to perform... (Review)
Review
Skin manifestations of systemic disease and malignancy are extremely polymorphous. Clinicians should be familiarized with paraneoplastic dermatoses in order to perform an early diagnosis of the underlying neoplasm. Lack of familiarity with cutaneous clues of internal malignancy may delay diagnosis and treatment of cancer. In this review, we described several paraneoplastic dermatoses and discussed extensively two paradigmatic ones, namely paraneoplastic pemphigus and paraneoplastic dermatomyositis.
Topics: Cytokines; Dermatomyositis; Erythema; Humans; Neoplasms; Paraneoplastic Syndromes; Pemphigus; Pyoderma Gangrenosum; Skin; Skin Diseases; Sweet Syndrome
PubMed: 32245283
DOI: 10.3390/ijms21062178 -
JAAD Case Reports Aug 2022
PubMed: 35928142
DOI: 10.1016/j.jdcr.2022.06.010 -
JAAD Case Reports Nov 2022
PubMed: 36212899
DOI: 10.1016/j.jdcr.2022.09.001 -
Indian Journal of Dermatology,... 2022
Topics: Humans; Extracellular Traps; Sweet Syndrome; Neutrophils
PubMed: 35962512
DOI: 10.25259/IJDVL_558_2021 -
Indian Journal of Dental Research :... 2014Acute febrile neutrophilic dermatosis or Sweet's syndrome (SS) is characterized by painful, erythematous plaques of rapid onset accompanied by fever. The etiology of SS...
Acute febrile neutrophilic dermatosis or Sweet's syndrome (SS) is characterized by painful, erythematous plaques of rapid onset accompanied by fever. The etiology of SS is unknown and it may be associated with antecedent infections, malignancies, autoimmune diseases, drugs and vaccines, upper respiratory or gastrointestinal infection, pregnancy, inflammatory bowel disease as well as chemotherapy or idiopathic. The standard therapy for SS is systemic corticosteroids. We report a rare case of 19-year-old young male patient with complaint of severe ill-defined type of pain in both jaws associated with plaques and papules on extensor surfaces of upper and lower extremities with bodyache and myalgia. Histopathological examination suggested perivascular neutrophilic infiltration with scattered eosinophils. Sweet syndrome has rare oral manifestations secondary to hematological changes. It can also present as a paraneoplastic syndrome (malignancy-associated form of condition, which is most commonly related to acute myelogenous leukemia), which leads to poor prognosis and thus it requires careful examination, early diagnosis and long-term follow-up.
Topics: Acetaminophen; Adult; Cetirizine; Dapsone; Drug Therapy, Combination; Humans; Male; Prednisone; Sweet Syndrome; Young Adult
PubMed: 25099003
DOI: 10.4103/0970-9290.138358 -
Clinical Case Reports Oct 2021Pediatric Sweet syndrome is a rare dermatosis often triggered by a prodromal illness or infection and characterized histologically by a dense neutrophilic infiltrate. We...
Pediatric Sweet syndrome is a rare dermatosis often triggered by a prodromal illness or infection and characterized histologically by a dense neutrophilic infiltrate. We report a 2-year-old girl with a classic presentation of Sweet syndrome following an acute thumb paronychia, who had a negative history of malignancy or immunodeficiency.
PubMed: 34707864
DOI: 10.1002/ccr3.4762 -
Anais Brasileiros de Dermatologia 2018Sweet's syndrome is a rare dermatosis with little-known pathogenesis, associated with some clinical conditions such as infections, autoimmune diseases, inflammatory...
Sweet's syndrome is a rare dermatosis with little-known pathogenesis, associated with some clinical conditions such as infections, autoimmune diseases, inflammatory bowel diseases, vaccination, medications and neoplasms. Hematologic malignancies are the diseases most related to paraneoplastic Sweet's syndrome, but this clinical entity can also be found occasionally in some solid tumors, including genitourinary tract tumors. We report a rare case of paraneoplastic Sweet's syndrome associated with the diagnosis of cervical cancer.
Topics: Diagnosis, Differential; Female; Humans; Middle Aged; Neoplasm Recurrence, Local; Paraneoplastic Syndromes; Sweet Syndrome; Uterine Cervical Neoplasms
PubMed: 30066769
DOI: 10.1590/abd1806-4841.20187353 -
Ugeskrift For Laeger May 2018Sweet syndrome (SS) exists as classical, malignancy-associated, drug-induced and as the new variants: giant cellulitis-like SS and neutrophilic dermatosis of the hands.... (Review)
Review
Sweet syndrome (SS) exists as classical, malignancy-associated, drug-induced and as the new variants: giant cellulitis-like SS and neutrophilic dermatosis of the hands. SS exhibits different morphologies. Skin manifestations are usually accompanied by fever and neutrocytosis. All variants respond to systemic corticosteroids, but SS can recur. SS may be the first sign of malignancy or recurrence of previous cancer. It is important to be aware of the disease, which may mimic other reactive and febrile diseases, to enable patients to obtain the correct diagnostic set-up and treatment.
Topics: Diagnosis, Differential; Humans; Sweet Syndrome
PubMed: 29761780
DOI: No ID Found