Esophageal motility in systemic sclerosis before and after autologous hematopoietic cell transplantation.

INTRODUCTION: Systemic sclerosis (SSc) is associated with esophageal dysmotility. Autologous hematopoietic cell transplantation (HCT) results in improvement of skin tightness and lung function. Whether esophageal motility improves after HCT is unknown. METHODS: Esophageal motility was studied using high-resolution esophageal manometry in 21 SSc patients before and at multiple time points after autologous HCT. Median posttransplant follow-up was 2 years (range, 6 months to 5 years). RESULTS: Prior to HCT, all 21 patients had abnormal motility-10 (48%) had unmeasurable and 11 (52%) had measurable peristalsis. Manometric diagnosis in the former 10 patients was "absent contractility" and in the latter 11 patients "ineffective esophageal motility (IEM)." After HCT, among the 10 patients with absent contractility, 9 continued to have absent contractility and one demonstrated weak measurable peristalsis. Of the 11 patients with IEM, 5 experienced SSc relapse, and 2 out of these 5 patients developed absent contractility. Among the 6 non-relapsed patients, 4 continued to have IEM, and 2 developed normal motility. CONCLUSIONS: HCT appears to have no beneficial effect on motility in patients with unmeasurable peristalsis. In patients with measurable peristalsis, HCT appears to stabilize and in some normalize motility, unless relapse occurs. Key Points • In patients with systemic sclerosis, esophageal dysmotility is a significant contributor to morbidity and so far, there has been no data describing the effects of hematopoietic cell transplantation on esophageal motility. • Our work demonstrated that in patients with systemic sclerosis and unmeasurable esophageal peristalsis prehematopoietic cell transplantation, there was no measurable beneficial effect of transplantation on esophageal motility. • In patients with systemic sclerosis and measurable peristalsis prehematopoietic cell transplantation, esophageal motility stabilized, except in relapsed patients.

Hematopoietic Cell Transplantation for Systemic Sclerosis-A Review.

Systemic sclerosis (SSc) is an autoimmune, multi-organ, connective tissue disease associated with significant morbidity and mortality. Conventional immunosuppressive therapies demonstrate limited efficacy. Autologous hematopoietic stem cell transplantation (HCT) is more efficacious but carries associated risks, including treatment-related mortality. Here, we review HCT as a treatment for SSc, its efficacy and toxicity in comparison to conventional therapies, and the proposed mechanisms of action. Furthermore, we discuss the importance of and recent developments in patient selection. Finally, we highlight the knowledge gaps and future work required to further improve patient outcomes.

Hyper- and hypopigmented macules over palms and soles since birth--a case of dyschromatosis symmetrica hereditaria.

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant genodermatosis that prominently occurs among Japanese and Korean individuals. Dyschromatosis symmetrica hereditaria presents with a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal aspects of the extremities. We report a case of a 4-year-old girl with DSH and review the pertinent features of this genodermatosis.

Adalimumab-associated antiphospholipid syndrome: a case report and review of the literature.

This study aims for the presentation of the first reported case of adalimumab-associated antiphospholipid syndrome (APS) and review of the literature on adalimumab-induced vasculitis and APS. A case of APS associated with adalimumab use in a 67-year-old woman is reported. The English medical literature was reviewed for antitumor necrosis factor (TNF) agents and their association with APS and vasculitis. Adalimumab is a fully humanized monoclonal antibody targeted against TNF alpha that is widely used in the treatment of rheumatoid arthritis, juvenile idiopathic arthritis, ankylosing spondylitis, psoriatic arthritis, psoriasis, and Crohn's disease. Literature review reveals several cases of anti-TNF-induced vasculitis including cases associated with adalimumab. We report the first case of adalimumab-induced APS in a 67-year-old woman who developed APS and vasculitis associated with de novo positive anti-cardiolipin (aCL) antibody following the third dose of adalimumab therapy for the treatment of spondyloarthropathy. This is the first case demonstrating that a short course of adalimumab therapy may induce immunoglobulin M aCL autoantibodies leading to APS. With the growing use of anti-TNF medications in immune-mediated and inflammatory diseases, adalimumab and other anti-TNF medications should be considered as a possible explanation for APS.

Shrinking lung syndrome masked by pleuropericarditis: a case report and review of the literature.

The purpose of this article is to present an unusual case of shrinking lung syndrome (SLS) masked by pleuropericarditis with a review of the literature. We report a case of SLS in a 44-year-old woman in which the diagnosis was initially confounded by concurrent pleuropericarditis. The English medical literature was comprehensively reviewed for SLS for its presentation, clinical findings, diagnosis, treatment, with specific focus on its pathogenesis. SLS is a rare respiratory complication associated with systemic lupus erythematosus (SLE). The main manifestation of the disease is unexplained dyspnea, chest pain, and orthopnea. Lung volume reduction without parenchymal abnormalities along with restrictive ventilatory defect on pulmonary function test (PFT) is the hallmarks of this condition. Pathogenesis, treatment, and prognosis of SLS are not well described due to the small number of reported cases. The diagnosis of SLS in our patient was made based on imaging, PFT, and the exclusion of other respiratory diseases associated with SLE. Treatment with corticosteroid and intravenous cyclophosphamide was initiated due to simultaneously diagnosed renal involvement. Our case demonstrates the salient features of SLS. It emphasizes that although SLS is a rare disease limited to small subset of patients with SLE, it should be considered in patients with SLE with unexplained dyspnea. Moreover, symptoms of pleuropericarditis can mask and delay the diagnosis of SLS. Prompt diagnosis and treatment can lead to a decrease in morbidity and stabilization of pulmonary function test abnormalities.

Risedronate-associated scleritis: a case report and review of the literature.

This paper presents the first reported case of risedronate-associated scleritis and conducts a review of bisphosphonates and inflammatory eye diseases. A case of scleritis associated with risedronate use in a 73-year-old Chinese woman is reported. The English medical literature was reviewed for bisphosphonates and their association with inflammatory eye diseases. Cases of ocular inflammation in patients taking bisphosphonates have been reported since the early 1990s. Reported cases include both nitrogen- and non-nitrogen-containing bisphosphonates and with both intravenous and oral use. We report the first case of risedronate-induced scleritis. The case involves a 73-year-old woman who developed scleritis following exposure to risedronate in 2007 with recurrence of scleritis upon risedronate exposure again in 2009. Discontinuation of risedronate and treatment with intravenous and topical corticosteroids resulted in both clinical and radiological improvements within 24 h. Applying Naranjo's adverse drug reaction probability scale, a causality assessment was made which categorized this reaction as definite with a score of 9. In our case, there was a strong causal relationship between the use of risedronate and scleritis. Although rare, ocular adverse effects of bisphosphonates may be serious and should be made known to prescribing physicians. This is important in the practice of rheumatology as many of the patients are prescribed this class of medication for either prevention or treatment of osteoporosis. Moreover, ocular inflammation can be a sign of systemic disease, and such patients may be referred to a rheumatologist.

Relapsing polychondritis associated with hepatitis C virus infection.

This article is aimed to review of relapsing polychondritis (RP) and its association to hepatitis C virus (HCV) infection. A case of RP associated with HCV infection in a 59-year-old male is reported. The English medical literature was reviewed for RP and its association with HCV infection. RP is a rare autoimmune and multisystem disorder of unknown etiology in which the cartilaginous and related tissues are the primary targets of inflammation. HCV infection is a more common systemic illness with known hepatic and extra-hepatic manifestations. Although RP is associated with other diseases in about 35% of cases, only one case of RP, HCV, and mixed cryoglobulinemia has been reported. We report a case of RP associated with HCV infection. Treatment with pegylated interferon and ribavirin resulted in sustained virologic response and remission of treatment-resistant RP with azathioprine. We report a case of RP and associated HCV infection. Although treatment of HCV infection resulted in remission of RP, it is unknown if there is a causal relationship between HCV infection and RP.

Progressive mucinous histiocytosis: importance of electron microscopy to confirm diagnosis.

BACKGROUND: Progressive mucinous histiocytosis (PMH) is a benign, non-Langerhans cell histiocytosis with characteristic ultrastructural features that can be used for diagnosis. Once an important tool in dermatologic diagnosis, electron microscopy has been largely replaced by immunohistochemistry and immunofluorescence techniques today. However, electron microscopy occasionally still plays a crucial role in the diagnosis of dermatologic conditions. We report a case of PMH as an example of a dermatologic disorder that requires electron microscopy for its diagnosis. METHODS: A 60-year-old woman presented to our clinic with a history of small, sharply demarcated, skin-colored papules ranging from 2 to 5 mm in diameter distributed over the arms, forearms, and dorsal hands. The results of light microscopy, immunohistochemical studies, and clinical examination were inconclusive. Another biopsy for electron microscopy showed the characteristic features of PMH. CONCLUSION: This case demonstrates that a dermatopathology service still needs to have access to electron microscopy for diagnostic purposes to successfully diagnose a small number of rare conditions.

Elastosis perforans serpignosa: treatment with liquid nitrogen cryotherapy and review of the literature.

BACKGROUND: Elastosis perforans serpiginosa (EPS) is a rare skin disease in which abnormal elastic tissue fibers, other connective tissue elements, and cellular debris are expelled from the papillary dermis via transepithelial elimination. It is characterized by an eruption of small grouped hyperkeratotic papules in a serpiginous arrangement. This condition presents a therapeutic challenge as many treatments have been reported with inconsistent efficacy. METHODS: This article reports a case of a 13-year-old male who presented to our outpatient clinic with a 1-year history of facial lesions showing multiple annular keratotic plaques with slight central atrophy. CONCLUSION: We report a case of EPS treated successfully with liquid nitrogen cryotherapy. Liquid nitrogen cryotherapy is well tolerated, with few side effects, and can be considered in the management of EPS.