Differential diagnosis of a thyroid mass, facial malar rash and ptosis on the flora in the primavera by Sandro Botticelli (1445–1510)

Purpose The Primavera is considered amongst the greatest and controversial artistic masterpieces worldwide painted by renaissance artist Sandro Botticelli. The aim was to identify any underlying medical foundations for the painting. Methods Observational study. Results The painting reveals, a ‘butterfly’ malar rash, bilateral ptosis and a clear neck swelling consistent with a goitre in the figure of Flora. This could be explained by concomitant Graves’ disease and systemic lupus erythematosus, or other presentations of multiple autoimmune syndrome. Conclusion These findings highlight the likely presentation of the earliest pictorial depictions of thyroid disease with systemic lupus erythematosus and emphasize the exactitude of depiction demonstrated by Botticelli in renaissance era.

AB0776 MULTIPLE AUTOIMMUNE SYNDROME

Background:Multiple autoimmune syndrome (MAS) is a rare entity, defined by the association of three autoimmune diseases in the same patient. MAS can be classified into three groups.Objectives:The objective of this work was to describe the autoimmune diseases profile in MAS in An Internal Medicine Department.Methods:We report a retrospective analysis including 14 cases of MAS seen in The Internal Medicine Department at Taher Sfar Hospital, Mahdia, TUNISIA over a period of 10 years.Results:We followed 14 patients with MAS. They were 14 women. The mean age of patients was 52 years. SAM was type 3 in 12 patients (85%), type 2 in one patient (7.1%) and one patient satisfied both type 2 and type 3 MAS criteria (7.1%). No cases of MAS type 1 had been reported. We found 13 patients with 3 associated autoimmune diseases and one patient with 4 associated autoimmune diseases. The autoimmune diseases were: Sjögren’s syndrome in 14 patients (100%), Hashimoto’s thyroiditis in 11 cases (78%), systemic lupus erythematosus in 7 cases (50%), Addison’s disease in 4 cases (28, 5%), scleroderma, thymoma, vitiligo, Biermer and primary biliary cholangitis each in one case (7.1%).Conclusion:Multiple autoimmune syndrome remains a rare but probably under-diagnosed entity. Thus, in patients with autoimmune disease, initial investigation and follow-up of clinical signs and biological stigmas of other autoimmune diseases should be cautious.Disclosure of Interests:None declared

Non-MAS Non-APS Rare Case: Co-Occurrence of Graves’ Disease (GD), Latent Autoimmune Diabetes in Adult (LADA), Systemic Lupus Erythematosus (SLE), and Ulcerative Colitis (UC)

Background: Advancement in medical technology has allowed us to diagnose complicated autoimmune diseases. There is a growing report of multiple autoimmunity co-occurence. Multiple Autoimmune Syndrome (MAS) is a combination of at least three autoimmune diseases, whereas Autoimmune Polyendocrine Syndromes (APS) comprise autoimmunity that involves multiple endocrine gland. Case Illustration: A 47-year old female came with chief complaint of palpitation. She had a history of systemic lupus erythematosus in the last three years, after suffering from malar rash, alopecia, and polyarthritis. Her 24-hour urine protein was 1575 mg. She routinely consumes methylprednisolone, hydroxychloroquine, and mycophenolic acid. She also experienced hematochezia and the biopsy from colonoscopy revealed chronic colitis with crypt destruction. She was diagnosed with ulcerative colitis and was treated with mesalazine. Since last year, her blood glucose was consistently high, accompanied with polydipsia and polyuria. She was treated with metformin, despite persistent increase in her A1C, as well as fasting and random blood glucose. We performed GAD65 test which came back positive, hence we diagnosed her with latent autoimmune diabetes in adult. In the past three months, she experienced palpitations, tremor, diarrhea, diaphoresis, and unexplainable weight loss. No exophthalmos was found, but she complained of an enlargement around her neck. We run thyroid hormone test, her TSHs was <0.003 (0.35-4.94 μIU/mL) and FT4 was 4.17 (0.70-1.48 ng/mL). Her ultrasound revealed diffuse enlargement of both thyroid with increased vascularization. We diagnosed her with Graves’ disease and treated her with methimazole and propranolol. Discussion: This case highlighted the rare co-occurrence of four autoimmune diseases. The underlying genetic predisposition of individual with autoimmune disease, will make them prone to develop multiple defect in their self-tolerance mechanism. However, the strict criteria of APS or MAS constrained us from putting all her autoimmunities into one big umbrella. Based on epidemiological data, hyperthyroidism in female productive age, with diffuse thyroid enlargement, is commonly due to Graves’ disease. However, this diagnosis needs to be further evaluated with thyroid scintigraphy and confirmed with TSH-receptor antibody test. Conclusion: Improvement in medical diagnostic tools as well as better understanding of the underlying pathophysiology will make it inevitable to find more autoimmunity co-occurrence in the future. In order to keep up with this progress, the traditional classification of APS or MAS should be reviewed to allow clinician to see the case in one big entity. Keywords: GD, LADA, SLE, UC

Ocular Cicatricial Pemphigoid, Sjögren’s Syndrome, and Hashimoto’s Thyroiditis as a Multiple Autoimmune Syndrome: A case report

Purpose: To present a rare and novel association of Ocular Cicatricial Pemphigoid, Sjögren’s Syndrome, and Hashimoto’s Thyroiditis as a Multiple Autoimmune Syndrome. Case report: A 43-year-old Colombian female, presented with corneal ulcers, associated with trichiasis. At the ophthalmological examination forniceal shortening OU and symblepharon OD was found. Conjunctival biopsy was performed, evidencing linear deposition of IgG and IgA antibodies along the basement membrane of the conjunctiva, confirming Ocular Cicatricial Pemphigoid diagnosis. After 12 years, the patient presented constitutional symptoms, xerostomia, and worsening of xerophthalmia. Laboratory tests showed positive Anti-TG, Anti-TPO, Anti-Ro, and Anti-La antibodies, and salivary gland biopsy was consistent with Sjögren’s Syndrome. Due to these findings, Hashimoto’s Thyroiditis and Sjögren’s Syndrome were diagnosed, defining a Multiple Autoimmune Syndrome. Conclusion: A novel association of Multiple Autoimmune Syndrome is presented in this case. Ophthalmologists and other specialists involved in the evaluation and treatment of patients with autoimmune diseases, should be aware of this clinical presentation. A multidisciplinary approach in this condition is important for optimum treatment instauration and follow-up, in order to prevent complications.

Multiple Autoimmune Syndrome: An Unusual Combination of Autoimmune Disorders

Background: Autoimmune diseases are multifactorial with environmental and heritable factors. Autoimmunity reflects an altered immune status, therefore the presence of more than one disorder is not uncommon. The coexistence of three or more autoimmune diseases in a patient constitutes multiple autoimmune syndrome (MAS). This is an interesting case of a middle-aged female who had celiac disease, primary biliary cholangitis, autoimmune hepatitis and evolving CREST (Calcinosis, Rhaynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasia) syndrome. Case Report: Fifty years old female patient presented with generalized fatigue, fever, weight loss, vertigo and constipation. She was a diagnosed case of celiac disease, and responded well to glutenfree diet. Family history was unremarkable for any autoimmune disorder. Laboratory workup showed normal complete blood counts, markedly elevated transaminases and alkaline phosphates. Her antinuclear antibodies (ANA) test was strongly positive (>1:320) and showed an anti-centromere pattern. Anti-extractable nuclear antibody(ENA) assay showed anti-mitochondrial and anti- CENP B antibodies. Liver biopsy revealed overlap syndrome (primary biliary cholangitis and autoimmune hepatitis). : This patient had celiac disease, primary biliary cholangitis and autoimmune hepatitis. Extensive immunological workup unexpectedly revealed the presence of anti-centromere protein B (anti-CENP B) antibodies which are strongly associated with CREST syndrome. Clinical re-evaluation of the patient gave clues of the evolving CREST syndrome. This case report highlights the importance of adequate immunological investigations in conjunction with clinical information for adequate patient management to achieve favorable consequences in the future. Conclusion: Patients suffering from an autoimmune disease need special attention as multiple immune- mediated disorders may be present simultaneously or sequentially during the course of the disease process. MAS patients are at a higher risk of acquiring infections and tumor development due to prolonged use of immunosuppressants. These patients need close surveillance for the development of another autoimmune disease, so as to control the current disease and to prevent future complications. This case report emphasizes the importance of a multidisciplinary team approach including an immunologist who may facilitate a better understanding of disorders related to the breakdown of immune tolerance.