Osteopetrosis in a Patient of Systemic Sclerosis Sine Scleroderma: A Rare Association

Systemic sclerosis is a connective tissue disorder of unknown etiology. Although it is a multisystemic disorder, skin thickening is considered as a hallmark of the disease. It usually involves the lungs, gastrointestinal, and musculoskeletal systems. However, a rare subset of systemic sclerosis, systemic sclerosis sine scleroderma, is characterized by internal organ involvement and positive serologic markers with the total or partial absence of cutaneous manifestations. We present a rare association of osteopetrosis in a case of systemic sclerosis sine scleroderma, in a 22-year-old male patient, who presented with pulmonary symptoms as his chief complaints, unreported so far in literature.

Acute Herpes Simplex Esophagitis in an Immunocompetent Adult with Eosinophilic Esophagitis

Herpes simplex esophagitis (HSE) represents a rare entity in immunocompetent patients and has infrequently been described in association with eosinophilic esophagitis (EoE). Causality in this rare association remains a debated topic. We present a case of HSE occurring in an immunocompetent adult with EoE and review the literature in support of EoE induced mucosal disruption predisposing to increased risk of HSE.

Bilateral Retinal Vasculitis in Association with Systemic Sclerosis sine Scleroderma. A case report and brief review of the literature.

Background: Systemic sclerosis sine scleroderma is a very rare subset characterized by the total or partial absence of cutaneous manifestations of systemic sclerosis with the occurrence of internal organ involvement and serologic abnormalities. The purpose of this article is to report a case showing a very rare association of bilateral retinal vasculitis (RV) and systemic sclerosis sine scleroderma (ssSSc). We show the description of a case report and revision of other medical histories, prospective and retrospective studies. Findings: A 40-year-old woman presented at our Hospital for blurry vision with her left eye (OS). Her best-corrected visual acuity was 20/20 in both eyes. Funduscopy examination showed bilateral occlusive vasculitis with proliferative retinopathy and vitreous hemorrhages. Retinography showed temporary sheathed and some occluded veins, surrounded by large number of retinal hemorrhages in both eyes. In fluorescein angiography were found areas of not perfused retina, also with telangiectasia and staining of retinal vessel’s walls. We found isolated microaneurysms in these ischemic areas. The ophthalmological treatment was confluent photocoagulation of the ischemic retina of both eyes, and vitrectomy of the right eye to treat his vitreous hemorrhage. The systemic treatment was corticosteroids and Adalimumab during two years; afterwards the stability was achieved. There was a lack of response to cyclosporine and azathioprine. The diagnosis comes years later after presenting: anticentromere antibodies, scleroderma pattern on capillaroscopy and esophageal manometry showing esophageal dysmotility with absent contractility.Conclusion: We report a rare association of RV and sclerosis sine scleroderma. RV can precede the development of ssSSc by several years.