Oral tacrolimus for ocular involvement in pediatric neutrophilic dermatoses

The coronavirus SARS-CoV-2 responsible for the current human COVID-19 pandemic has shown tropism toward different organs with variable efficiency, eyes included. The purpose of this study has been to investigate the presence of detectable SARS-CoV-2 infection in ocular swabs in patients affected by COVID-19. A consecutive series of 74 COVID-19-positive patients (age 21–89) were enrolled at two Polish COVID-19 hospitals for 4 months and were characterized by PCR for the presence of the SARS-CoV-2 genetic material in nasopharyngeal (NP) and ocular swabs, while their respiratory and ocular symptoms were noted. Almost 50% of them presented with severe/critical respiratory involvement, and some degree of eye disease. No tight correlation was observed between the presence of ocular and respiratory symptoms. Three male patients presenting with severe/critical lung disease tested positive in ocular swab, however with mild/moderate ocular symptoms. In conclusion, our study lends further support to the view that overt ocular infection by the SARS-CoV-2 virus is not such a frequent occurrence.

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AB0786 HUGHES–STOVIN SYNDROME: A PECULIAR AUTOIMMUNE ORIGIN OF PULMONARY ANEURYSMS

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2021-eular.4097 ◽

2021 ◽

Vol 80 (Suppl 1) ◽

pp. 1418.2-1419

Author(s):

P. Triggianese ◽

A. D’antonio ◽

B. Kroegler ◽

A. Ascoli Marchetti ◽

L. Belvivere ◽

...

Keyword(s):

Pulmonary Embolism ◽

Ct Angiography ◽

Early Recognition ◽

Endovascular Embolization ◽

Ocular Involvement ◽

Arterial Aneurysm ◽

Filter Placement ◽

Invasive Approach ◽

Oral Ulcers

Background:Hughes-Stovin Syndrome (HSS) is a rare potentially fatal vasculitis supposedly belonging to the spectrum of Behçet disease without ocular involvement. HSS tends to play by a temporal pattern, starting with thrombosis and followed by formation of pulmonary aneurysms. Since its mortality can reach 25% of cases, the early recognition and the appropriate therapy represent the major challenges.Objectives:In this report, we aimed at describing a rare case of HSS successfully treated in accordance with a prompt combined management with endovascular approach and immunosuppressive treatments.Methods:We described a Caucasian 33-year-old man presented to the Emergency Room of our Hospital with hemoptysis associated with dyspnea and chest pain, without fever and hypotension, with a 2-year history of painful genital and oral ulcers. Blood test revealed anemia, elevated white cell count with increased C-reactive protein (77 mg/L) and D-dimer (2740 ng/mL). Doppler ultrasonography of legs showed thrombosis of the left femoral vein, while CT-angiography reported multiple aneurysms of the pulmonary arteries. An early and extensive work-up for infections and autoimmunity did not document relevant abnormalities. An appropriate genetic assessment revealed the HLA-B51 positivity. The patient immediately underwent endovascular embolization with coils and plugs of the largest pulmonary aneurysm, and inferior vena cava filter placement. Then, he started methylprednisolone (1 mg/kg/day) IV for three days in association with LMWH (6000 IU/day). Prednisone (1 mg/kg/day) in combination with cyclophosphamide (100 mg daily) were started orally, with tapering of steroids within a month. At the tight follow up (1 month and 3 months later), no genital and oral ulcers nor vascular thrombosis occurred, and acute phase reactants were in normal range. The 3-month-CT angiography showed a complete resolution of the aneurysms and no new changes.Results:The peculiar diagnosis of HLAB51 positive HSS with multiple pulmonary aneurysms was made. The appropriate imaging followed by a prompt endovascular embolization of aneurysms with LMWH treatment were successfully performed. Interestingly, the oral combination therapy with corticosteroid and cyclophosphamide showed a rapid efficacy with a relevant safety profile. At the tight follow up, the young man improved significantly with clinical signs and pulmonary changes (Figure 1 next page).Conclusion:This case is of interest because of the early recognition of such a rare disease that allowed an adequate combined radiological, vascular, and rheumatologic approach. In our case, LMWH resulted useful in preventing the pulmonary embolism, despite the use of anticoagulants is still debated in HSS. Moreover, the endovascular embolization let a less invasive approach to surgery without the need for multiple surgical procedures. For the first time, we documented that oral cyclophosphamide showed an early efficacy as a first line therapy of a HLA-B51 HSS.References:[1]Keskin M, Polat G, Ayranci A, et al. Insidious Hughes Stovin Syndrome: Journey From Pulmonary Embolism to Pulmonary Arterial Aneurysm. Turk Thorac J. 2020;21:350-353.[2]Valdés-Corona LF, Kimura-Hayama E, Méndez-Cano VH, et al. Hughes-Stovin syndrome: an uncommon cause of pulmonary aneurysms. Rheumatology (Oxford). 2020;59:2183-2184.Figure 1.Disclosure of Interests:None declared

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Extrapulmonary sarcoidosis with a focus on cardiac, nervous system, and ocular involvement

EClinicalMedicine ◽

10.1016/j.eclinm.2021.100966 ◽

2021 ◽

Vol 37 ◽

pp. 100966

Author(s):

John A. Belperio ◽

Faisal Shaikh ◽

Fereidoun Abtin ◽

Michael C. Fishbein ◽

Rajan Saggar ◽

...

Keyword(s):

Nervous System ◽

Ocular Involvement

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Antineutrophil Cytoplasmic Antibodies of IgA Class in Neutrophilic Dermatoses With Emphasis on Erythema Elevatum Diutinum

Archives of Dermatology ◽

10.1001/archderm.140.8.931 ◽

2004 ◽

Vol 140 (8) ◽

Cited By ~ 46

Author(s):

Nakhlé Ayoub ◽

Jean-Luc Charuel ◽

Marie-Claude Diemert ◽

Stéphane Barete ◽

Marc André ◽

...

Keyword(s):

Antineutrophil Cytoplasmic Antibodies ◽

Neutrophilic Dermatoses ◽

Erythema Elevatum Diutinum

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A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

Genes ◽

10.3390/genes12050716 ◽

2021 ◽

Vol 12 (5) ◽

pp. 716

Author(s):

Daniele Castiglia ◽

Paola Fortugno ◽

Angelo Giuseppe Condorelli ◽

Sabina Barresi ◽

Naomi De Luca ◽

...

Keyword(s):

Amniotic Membrane ◽

Epidermolysis Bullosa ◽

Ocular Involvement ◽

Human Amniotic Membrane ◽

Vitro Assay ◽

Junctional Epidermolysis Bullosa ◽

Mucosal Involvement ◽

Skin Fragility ◽

Laminin 332

Junctional epidermolysis bullosa (JEB) is a clinically and genetically heterogeneous skin fragility disorder frequently caused by mutations in genes encoding the epithelial laminin isoform, laminin-332. JEB patients also present mucosal involvement, including painful corneal lesions. Recurrent corneal abrasions may lead to corneal opacities and visual impairment. Current treatments are merely supportive. We report a novel JEB phenotype distinguished by the complete resolution of skin fragility in infancy and persistent ocular involvement with unremitting and painful corneal abrasions. Biallelic LAMB3 mutations c.3052-5C>G and c.3492_3493delCG were identified as the molecular basis for this phenotype, with one mutation being a hypomorphic splice variant that allows residual wild-type laminin-332 production. The reduced laminin-332 level was associated with impaired keratinocyte adhesion. Then, we also investigated the therapeutic power of a human amniotic membrane (AM) eyedrop preparation for corneal lesions. AM were isolated from placenta donors, according to a procedure preserving the AM biological characteristics as a tissue, and confirmed to contain laminin-332. We found that AM eyedrop preparation could restore keratinocyte adhesion in an in vitro assay. Of note, AM eyedrop administration to the patient resulted in long-lasting remission of her ocular manifestations. Our findings suggest that AM eyedrops could represent an effective, non-invasive, simple-to-handle treatment for corneal lesions in patients with JEB and possibly other EB forms.

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AB0543 CLINICAL CHARACTERISTICS OF A GROUP OF CHRONIC GRAFT-VERSUS-HOST DISEASE PATIENTS WITH POSITIVE AUTOIMMUNITY.

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2020-eular.1871 ◽

2020 ◽

Vol 79 (Suppl 1) ◽

pp. 1568.1-1568

Author(s):

M. E. Acosta ◽

L. Gómez-Lechón ◽

O. Compán ◽

S. Pastor ◽

C. A. Montilla-Morales ◽

...

Keyword(s):

Graft Versus Host Disease ◽

Clinical Characteristics ◽

De Novo ◽

Small Sample Size ◽

Small Sample ◽

Eosinophilic Fasciitis ◽

Ocular Involvement ◽

Host Disease ◽

Graft Versus Host ◽

Multidisciplinary Consultation

Background:Graft-versus-host disease (GVHD) is a commonly severe multiorgan complication in patients undergoing allogeneic transplantation of hematopoietic progenitors. Its chronic form reflects a complex immune response with different degrees of inflammation, immune dysregulation and fibrosis. In some chronic graft-versus-host disease (cGVHD) patients, positive antibodies have been detected, which represent the presence of immune activity and suggest the possible involvement of B lymphocytes in the disease etiopathogenesis, but their clinical utility is controversial.Objectives:To describe the clinical characteristics of a group of cGVHD patients with positive autoimmunity treated in a multidisciplinary consultation of Rheumatology-Dermatology- Hematology of GVHD.Methods:Observational and retrospective study to describe the clinical characteristics of the patients with positive autoimmunity collected in the database of the multidisciplinary consultation of GVHD. The variables reviewed for this study, in addition to the demographic ones, were type of antibody, disease causing the transplant, presentation, severity and type of involvement. The statistical analysis was done with Epi-info 7.2.2.6.Results:Only 16 (16%) of the 100 patients included in the database had positive autoimmunity. Twelve (75%) tested positive to ANA, although 5 (31.25%) in a lower titer (1/80). The most common immunofluorescence pattern was the nucleolar in 88.89% (66.67% nucleolar and 22.22% nucleolar + cytoplasmic). Other antibodies detected were: 6 anti-Ro52, 2 anti-dsDNA, 1 anti-RP155, 1 anti-Fibrillarin, 1 anti-SAE1, 1 p-ANCA and 1 anti-NOR-90. The mean of age was 51.31±14.03 years. As for sex 4 (25%) were female and 12 (75%) were men. The most frequent disease that caused the transplant was acute myeloid leukemia (58.3%). Ten (62.5%) patients presented de novo cGVHD, 1 (6.25%) progressive and 5 (31.25%) quiescent. The time since receiving the transplant until the first visit was 14 to 79 months. Ten (62.5%) patients had nonspecific symptoms (arthralgia and myalgia), 2 (12.5%) edema, 8 (50%) contractures, 8 (50%) fasciitis and 6 (37.5%) eosinophilia. Eight (50%) patients had ocular involvement and 6 (37.5%) of the oral mucosa in the form of dry syndrome (Sjögren-like syndrome). Ten (62.5%) patients had limitation of joint mobility detected by the range of motion scale (ROM), of which 6 were mild and 4 moderate. Only 5 (31.25%) patients had general condition impairment. As for the skin involvement 10 (62.5%) patients had sclerodermiform involvement (8 of them being eosinophilic fasciitis- like), 2 (12.5%) lichenoid, and 3 (18.5%) mixed (sclerodermiform + lichenoid). Only 1 patient didn´t meet diagnostic criteria for GVHD. The sclerodermiform was the most common type of involvement in the positive ANA patients. Regarding the severity according to the of the American National Institute of Health (NIH) classification: 8 (50%) had serious affectation, 5 (31.25%) moderate and 2 (12.5%) mild, with 4 (25%) exitus.Conclusion:In our cohort of patients with cGVHD, serum detection of autoantibodies is uncommon, being the ANA with nucleolar pattern the most frequent. Although the small sample size does not allow correlations with the clinical variables it´s worth highlighting a greater positivity of autoantibodies in the sclerodermiform skin forms.References:[1]Kuzmina Z et al. Clinical significance of autoantibodies in a large cohort of patients with chronic graft-versus-host disease defined by NIH criteria. Am J Hematol. 2015 February; 90(2): 114–119.[2]Rhoades R, Gaballa S. The Role of B Cell Targeting in Chronic Graft-Versus-Host Disease, Biomedicines 2017, 5, 61: 2-10Disclosure of Interests:Maria Elisa Acosta: None declared, Luis Gómez-Lechón: None declared, Olga Compán: None declared, Sonia Pastor: None declared, Carlos A. Montilla-Morales: None declared, Olga Martínez González: None declared, Ana Isabel Turrión: None declared, Javier del Pino Grant/research support from: Roche, Bristol, Consultant of: Gedeon, Cristina Hidalgo: None declared

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