Primary Localized Cutaneous Nodular Amyloidosis and Limited Cutaneous Systemic Sclerosis: Additional Cases with Dermatoscopic and Histopathological Correlation of Amyloid Deposition.

Primary localized cutaneous nodular amyloidosis (PLCNA) is a rare condition due to the plasma cell proliferation and skin deposition of immunoglobulin light chains, without systemic amyloidosis or hematological dyscrasias. The association with autoimmune connective tissue diseases has been reported, especially with Sjogren's syndrome, and in a few cases with systemic sclerosis. Herein, we describe three cases of PLCNA occurring in women with a diagnosis of limited cutaneous systemic sclerosis and review the literature on the topic to highlight a stereotypical presentation. Moreover, we support the usefulness of dermoscopy, characterized by a yellow-orange waxy pattern surrounded by telangiectasias, for a rapid and non-invasive diagnostic assessment. Thus, when asymptomatic nodules occur on lower limbs of women affected with limited systemic sclerosis, and dermoscopy identifies yellow-orange blotches, a diagnosis of PLCNA can be considered and further confirmed by histopathology. Monitoring for systemic amyloidosis development is advisable, although the risk of progression is considered very low.

Systemic Sclerosis and Pulmonary Disease.

Systemic sclerosis is a complex, often progressive, multisystem autoimmune disease. It is commonly categorized into limited cutaneous or diffuse cutaneous systemic sclerosis. There is near universal involvement of skin fibrosis and gastrointestinal dysfunction, but lung disease is not only common but also a most serious complication. Severe lung disease is the top cause of mortality, displacing scleroderma renal crisis as the leading cause of death. Whether there is limited cutaneous or diffuse cutaneous manifestations can be predictive of what type of lung disease that can present in the patient. Limited cutaneous systemic sclerosis patients tend to have pulmonary hypertension whereas diffuse cutaneous systemic sclerosis patients tend to have interstitial lung disease. There are more rare phenotypes associated with antibodies Th/To and U3RNP that can have both pulmonary hypertension and interstitial lung disease concomitantly. There are inherent challenges in the management for both pulmonary hypertension and interstitial lung disease but with the focus on early diagnosis for each of these lung complications, treatment may have a higher chance of efficacy.

Increased malignancies in our Waikato cohort of patients with systemic sclerosis.

BACKGROUND: Systemic sclerosis (SSc) has been associated with an increased risk of malignancy (especially in the skin, lung, breast, and hematological system). AIM: To determine the risk of malignancies in our SSc cohort. METHODS: The NZ National Cancer Registry supplied details of all malignancies recorded in patients attending the Waikato Hospital Systemic Sclerosis Clinics from 2005 to 2018. Prospectively gathered clinical data were used to look for associations between clinical variables and malignancy. RESULTS: Out of the 164 patients in the Waikato SSc cohort, 32 (19.5%) had developed a malignancy. The overall standardized incidence rate was found to be 2.2 (95% CI 1.4-3.4) but was higher for men (4.4, 95% CI 1.4-10.3). The absolute numbers of patients with SSc and malignancies were small and were not adequately powered to investigate the SSc subgroups. The mean age of patients with malignancy was approximately 8 years older than patients without. The most common form of malignancy was skin (14, 43.7%), followed by breast (6, 18.7%), and lymphoma (5, 15.6%). CONCLUSION: This study found an increased risk of malignancy for patients within the Waikato SSc cohort. Risk was greater in male patients and the mean age of patients with malignancies was approximately 8 years older than those without malignancy.

Portal vein thrombosis due to essential thrombocythemia with limited cutaneous systemic sclerosis.

Portal vein thrombosis is caused by various diseases, including liver cirrhosis, cancer, abdominal infection, and myeloproliferative disorders. Essential thrombocythemia is one of the myeloproliferative disorders in which the bone marrow produces excessive amount of platelets and can be accompanied by various thrombotic diseases; however, essential thrombocythemia with limited cutaneous systemic sclerosis has not been reported yet. We herein report a case of extensive portal vein thrombosis due to essential thrombocythemia with limited cutaneous systemic sclerosis. A 49-year-old woman was referred to our hospital due to liver dysfunction. Extended portal vein thrombosis, splenomegaly, and thrombocytosis were founded. The examination of Janus kinase 2 V617F mutation in the bone marrow was positive. These findings resulted in the diagnosis of portal vein thrombosis due to essential thrombocythemia. Furthermore, Raynaud's phenomenon, finger's sclerosis, and positive anti-centromere antibody led to limited cutaneous systemic sclerosis. To further analyze the causal relationship between essential thrombocythemia and limited cutaneous systemic sclerosis, platelet-derived growth factor was examined. High level of serum platelet-derived growth factor, possibly caused by high platelet count due to essential thrombocythemia, was observed. As platelet-derived growth factor has been reportedly associated with the occurrence of systemic sclerosis, the present case indicates the possible causal link between essential thrombocythemia and limited cutaneous systemic sclerosis through high platelet-derived growth factor.

Anti-RNA polymerase III antibody-associated scleroderma renal crisis in a patient with limited cutaneous systemic sclerosis: A case report.

A 69-year-old Japanese man was presented with hypertensive crisis. Renal histology revealed malignant nephrosclerosis, including an onion skin pattern with fibrinoid necrosis of the small arteries from arterioles up to interlobular arteries. Immunological investigation clarified positive anti-RNA polymerase (RNAP) III antibody, and limited cutaneous systemic sclerosis (Lc SSc) was diagnosed by skin biopsy as the underlying disease causing scleroderma renal crisis (SRC). Angiotensin covering enzyme (ACE) inhibitor therapy and calcium antagonist were effective for his renal condition. Although an association between SRC and anti-RNAP III antibody has already been reported in patients with diffuse cutaneous SSc (Dc SSc), this case indicates that SRC with hypetensive emergency with malignant nephrosclerosis can also be diagnosed on patients with Lc SSc patients by the examination of anti-RNAP III antibody.

Management of Systemic Sclerosis-Related Skin Disease: A Review of Existing and Experimental Therapeutic Approaches.

The skin is the most common organ system involved in patients with systemic sclerosis (SSc). Nearly all patients experience cutaneous symptoms, including sclerosis, Raynaud's phenomenon, digital ulcers, telangiectasias, and calcinosis. In addition to posing functional challenges, cutaneous symptoms are often a major cause of pain, psychological distress, and body image dissatisfaction. The present article reviews the main features of SSc-related cutaneous manifestations and highlights an evidence-based treatment approach for treating each manifestation. This article also describes novel treatment approaches and opportunities for further research in managing this important clinical dimension of SSc.