Bilateral Exophthalmos Revealing a Case of Husband and Wife Sarcoidosis

Astudillo, L.; Soler, V.; Sailler, L.; Irsutti-Fjortoft, M; Arlet‐Suau, E.

doi:10.1016/j.amjmed.2005.11.032

Cited by 7 publications

(3 citation statements)

References 19 publications

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“…When it occurs in this context, it is usually unilateral and is the initial symptom. It can be bilateral-as in our case-only in rare cases [3,[5][6][7][8].…”

Section: Discussionmentioning

confidence: 99%

Bilateral Exophthalmos caused by Systemic Sarcoidosis: a case report

Kassimi¹,

Rkiouak²,

Hammi³

et al. 2018

EJMCR

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Background: Ocular involvement, although common in sarcoidosis, granulomatous infiltration of the orbital tissue remains very rare. Case Presentation: We describe the case of a 55-year-old man who presented bilateral protrusion of eyeballs that had been evolving for 1 year. Clinical examination found an axial and non-pulsatile bilateral exophthalmos with cervical lymphadenopathy. CT and MRI showed infiltration of oculomotor muscles. Biopsy of salivary glands showed chronic inflammatory granulomatous infiltration without caseous necrosis. There was a significant rapid improvement with the use of a steroid as primary therapy. Conclusion: Sarcoidosis may be a part of exophthalmos causes, after ruling out the main causes which include: Graves' disease, carotid-cavernous fistula, tumors, and infectious causes.

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“…When it occurs in this context, it is usually unilateral and is the initial symptom. It can be bilateral-as in our case-only in rare cases [3,[5][6][7][8].…”

Section: Discussionmentioning

confidence: 99%

Bilateral Exophthalmos caused by Systemic Sarcoidosis: a case report

Kassimi¹,

Rkiouak²,

Hammi³

et al. 2018

EJMCR

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“…• Familial clustering • Spatial clustering: the occurrence of a disease among close contacts 40,41 Gene Comment Reference Tumour necrosis factor (TNF)-a TNF-A2 significantly associated with Lö fgren syndrome TNF-857T allele associated with a risk for sarcoidosis TNF-A1031 and TNF-A863 polymorphisms associated with sarcoidosis onset in Asian Indians Swider et al 21 Grutter et al 22 Sharma et al 33 Interleukin-1 IL-1 alpha-889 1.1 genotype significantly overrepresented in sarcoidosis patients IL-1 alpha and F13A alleles increase risk for sarcoidosis Hutyrova et al 23 Rybicki et al 24 Vitamin D receptor (VDR) VDR gene polymorphism (B allele) is related to risk of sarcoidosis Niimi et al 25 Human natural resistance-associated macrophage protein (NRAMP1) NRAMP1 polymorphism may be protective in sarcoidosis Maliarik et al 26 Chemokine receptor 2 (CCR2) CCR2-64I allele: lower risk for the development of sarcoidosis CCR2-haplotype 2: strong association with Lö fgren's syndrome Hizawa et al 27 Petrek et al 28 Spagnolo et al 29 Angiotensin-converting enzyme (ACE) Deletion allele: associated with risk for sarcoidosis in African-Americans, Germans and Asian Indians…”

Section: Environmental Pathogenesismentioning

confidence: 99%

“…Other bacteria such as Borrelia burgdorferi , 67 Chlamydia pneumoniae 68 and Rickettsia helvetica 69,70 and also viruses such as human herpesvirus‐8 7 1–75 and hepatitis C virus 76,77 have been investigated, but the results have been inconclusive or conflicting.…”

Section: Infectious Aetiologymentioning

confidence: 99%

Cutaneous sarcoidosis: updates in the pathogenesis

Ali¹,

Atwan

Gonzalez

2010

Acad Dermatol Venereol

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Sarcoidosis is a multiorgan granulomatous disease in which the skin is one of the frequently involved target organs. Cutaneous involvement occurs in a third of patients with sarcoidosis and has protean manifestations. More than a century has passed since the initial description of sarcoidosis, but its cause continues to be an enigma. Recent studies have introduced several new insights into the pathogenesis of this disease. The aim of this literature review was to provide a comprehensive overview on the current updates in the pathogenesis of sarcoidosis. This review has revealed that several genetic polymorphisms are associated with an increased risk of developing sarcoidosis, suggesting that genetic susceptibility to sarcoidosis is probably polygenic. Environmental factors may also modify the susceptibility to sarcoidosis. Evidence favouring an infectious aetiology has been accumulating, but the results of studies are conflicting. The current concept is that the pathogenesis of sarcoidosis involves a T-helper-1-mediated immune response to environmental antigens in a genetically susceptible host. The studies carried out on sarcoidosis have largely focused on the pulmonary aspects and have been mainly conducted by respiratory physicians. In contrast, research conducted on the cutaneous aspects of sarcoidosis is comparatively limited. Although tremendous advances have been made, there is a significant gap between the vast knowledge accumulated on sarcoidosis in recent years and the understanding of this disease.

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