Malabsorption with weight loss due to gastrointestinal mast cell infiltrates. About 90% of people with Systemic Mastocytosis have Indolent Systemic Mastocytosis (NonAdvSM), a life-long illness with chronic symptoms including headaches, urticaria pigmentosa, skin lesions, skin redness and warmth (flushing), abdominal pain, bloating . Fewer than 5% of people with an initial diagnosis of ISM will progress to a more severe form of systemic . Indolent systemic mastocytosis (ISM)a a These subtypes require information regarding B and C findings for complete diagnosis, all of which may not be available at the time of initial tissue diagnosis (Valent et al, 2001). Warm regards, Meets criteria for SM. For example, the median OS was 41 months and 24 months, respectively for ASM (n = 41 patients) and SM-AHN (n = 138 patients), and only 2 months for MCL (n = 4) patients. Systemic mastocytosis. Indolent systemic mastocytosis. The 2022 edition of ICD-10-CM D47.02 became effective on October 1, 2021. 20.9C and D). Mast cells comprise ≥20% of the nucleated cells in bone marrow smears and ≥10% of the leukocyte differential counts in peripheral blood (Fig. SM is mast cell disease beyond skin. In SSM, B-findings are present, and in isolated BMM there is lack of skin involvement (Table 14.3). Mast cells are an important type of immune cell that normally play a role in the body to help fight infection and trigger the allergic response. Indolent systemic mastocytosis. Got a question about living with indolent systemic mastocytosis? ), Jason Gotlib, ... Peter Valent, in Hematology (Seventh Edition), 2018. The bone marrow is hypercellular with the presence of numerous micromegakaryocytes ((A) and (B) arrows). Interferon-α2b may have some efficacy in decreasing musculoskeletal pain and improving bone mineralization in patients with extensive bony involvement. Indolent systemic mastocytosis is generally associated with low . Jan 7, 2021, 4:27:09 PM. 1-4 Regardless of the type of . Treating Indolent Systemic Mastocytosis and Mast Cell Activation Syndrome. In patients with SM, eosinophilia was also associated with inferior outcomes in one study, and was prognostically neutral in another series. 1. Editorial Note: Please note that this section is currently under review and will be updated soon.ON THIS PAGE: You will find some basic information about this disorder, which may or may not become cancerous, and the parts of the body it may affect. Indolent systemic mastocytosis is the presence of too many mast (mastocytes) cells in the bone marrow and skin. Interestingly, the BM MC burden can be extremely low among ISM patients [0.09% (range: 0.0006–0.5%) on ISMs− and 0.1% (range: 0.003–1.47%) on ISMs+ cases], and the observation of coexisting normal and pathological MCs in the same patient is a relatively frequent finding (33% of ISMs− patients and 18% of ISMs+ cases) (Alvarez-Twose et al., 2009). GARD Information Specialist, If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. Copyright © 2021 Elsevier B.V. or its licensors or contributors. Myeloid neoplasms, in particular AML and MPN, may even obscure SM, which is detected only after chemotherapy and remission of the basic disease (= ‘occult mastocytosis’).18. MCL is further subclassified as aleukemic MCL when the circulation of MCs in the peripheral blood is less than 10% or leukemic with greater than 10% circulating MCs. The KIT mutation in codon 816 is the typical molecular finding. This entity, also known as “SM associated with clonal hematological non-mast cell lineage disease”, is mastocytosis associated with hematological neoplasms, such as acute myeloid leukemias, acute lymphoid leukemias, myelodysplastic syndromes, chronic myeloproliferative disorders, or lymphoma (Figs. Indolent systemic mastocytosis is a rare condition caused by the accumulation of mast cells in the body's organs, including the bone marrow and skin. Of course, very few doctors are familiar with treating ISM or MCAS, so the advice here is presented so patients can better understand their options and be more proactive . (Teodosio et al., 2010). Less commonly, other organs such as the brain, heart or lungs also may be affected. Dean D. Metcalfe, in Middleton's Allergy (Eighth Edition), 2014. Indolent Systemic Mastocytosis: This type is considered a benign form of the condition. There is no cure, but there are treatments. Systemic mastocytosis results from proliferation and activation of an abnormal mast cell clone. In patients with stable SSM, disease parameters are checked every 6–12 months. 20.9A). Systemic Mastocytosis occurs when mast cells inappropriately accumulate in various internal organs in the body. By continuing you agree to the use of cookies. 2012 Mar. SM patients with eosinophilia tend to suffer from SSM, ASM, or MCL, but even in ISM, eosinophilia may be detected. Such aberrant overexpression of some proteins could be related, at least in part, to the constitutive activation induced by the D816V KIT mutation, which is virtually carried by all these SM patients (Garcia-Montero et al., 2006; Teodosio et al., 2010). PatientsLikeMe relies on JavaScript and Cookies to deliver the best possible experience to you. The PEB deamed me UNFIT for duty due to a rare disease I have . Mast cells build up in the tissues and organs, but the buildup of cells does not cause problems in the organs. Indolent systemic mastocytosis (ISM) and smoldering systemic mastocytosis (SSM) - ISM and SSM usually have a clinically indolent course, with median survival measured in decades. A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. Type II immature atypical MCs are frequent. Use the menu to see other pages. In SSM, high tryptase levels (up to 1000 ng/mL) may remain in a constant stable range over decades without any therapy. Too many mast cells can build up in the skin, liver, spleen, bone marrow or intestines. Isolated bone marrow mastocytosis representing bone marrow infiltration without skin involvement. Indolent Systemic Mastocytosis. Venom immunotherapy in indolent systemic mastocytosis with high serum tryptase level. Six SM variants are recognized by the 2016 WHO classification scheme (see Box 20.1). The diagnosis requires that the cytologically atypical MCs are more than 20% of bone marrow nucleated cells on bone marrow aspirate smear. Read it on, The severity of Parkinson's Disease symptoms changes faster than researchers thought, so clinical trials should be designed differently. (c) 2005-2021 PatientsLikeMe. Background Serum baseline tryptase (sBT) is a minor diagnostic criterion for systemic mastocytosis (SM) of undetermined prognostic impact. The presence of KIT mutations in both neoplastic MCs and non-MC neoplastic myeloid cells supports the assumption that a common neoplastic precursor gives rise to both MC and non-MC components of SM-AHN. Palpable splenomegaly with hypersplenism. In patients with ASM and MCL, frequent follow-up visits are required, their frequency depending on the clinical course, therapy, and overall situation. Hi Everyone, I am currently going through MEB/PEB (a/o JUN '11). It is typically diagnosed in adults. The growth and infiltration of mast cells in various organs may lead to organomegaly as well as organ dysfunction, leading to ascites, cytopenia, malabsorption, and pathologic fractures. In this presentation from the 2017 European Focus on Myeloproliferative Neoplasms and Myelodysplastic Syndromes, Dr. Andreas Reiter discusses the biology and. Signs and symptoms vary based on which parts of the body are affected. Patients may present with primary or secondary MCL, the latter developing after CM or other types of SMs. High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. The majority of patients with ISM have UP and show evidence of systemic involvement but lack C-findings. Mast Cell Sarcoma. Representative bivariate dot plots illustrating the light scatter (panel A) and immunophenotypical characteristics (panels C–L) of BM MC from healthy donors (black dots) and BM MC from patients with ISM (blue dots in column I), WDSM (green dots in column II), and ASM (red dots in column III) identified on the basis of their strong reactivity for CD117 and positivity for CD45 (panel B). ASM, aggressive systemic mastocytosis; BMM, isolated bone marrow mastocytosis; ISM, indolent systemic mastocytosis; MCL, mast cell leukemia; SM-AHNMD, systemic mastocytosis with associated clonal hematological non-mast cell lineage disease; SSM, smoldering systemic mastocytosis. SM has been divided into the following categories. Read about it on. Histologic evaluation of the bone marrow in ASM usually shows a variable degree of mixed dense, focal, and diffuse MC infiltration (Fig. Disclaimer: Treatment for medical conditions should be administrated by a doctor. How do people experience each condition differently, and why? Indolent systemic mastocytosis. Aggressive SM (ASM) is characterized by the presence of organ function impairment and C-findings, leading to an aggressive clinical course. ISM is a less . Indolent systemic mastocytosis is a group of rare diseases for which reliable predictors of progression and outcome are still lacking. Systemic mastocytosis can lead to itchy skin, headaches, and more. I was finally diagnosed just 2 months ago and have just begun treatment with Pepcid, Allegra, Gastrocrom and Marinol (to increase appetite.I've lost 20 pounds in the last 9 months and am way too skinny). Furthermore, aberrant MC can be as few as only 20% of all BM MC (personal observation), which raises the need for the investigation of large numbers of cells in order to avoid false negative results. Smoldering Systemic Mastocytosis. When you share what it’s like to have indolent systemic mastocytosis through your profile, those stories and data appear here too. This is a multicenter, randomized, double-blind, placebo-controlled, 2-parallel-group, trial comparing oral masitinib versus placebo in the treatment of patients suffering from smouldering or indolent systemic mastocytosis with severe symptoms of mast cell mediator release (also referred to as handicaps), unresponsive to optimal symptomatic . Brief Summary: This is a randomized, placebo- and active-controlled, 2-period crossover, 2 cohort study in adult patients with indolent systemic mastocytosis (ISM). Read about it in, Insomnia is more common—in fact worse—for people with chronic conditions. Extracutaneous mastocytoma is an extremely rare lesion consisting of an accumulation of mature mast cells in extracutaneous sites, such as the lung. About indolent systemic mastocytosis. It represents less than 10% of cases of systemic mastocytosis. Indolent systemic mastocytosis (ISM) is a usually benign, chronic, form of systemic mastocytosis characterized by an abnormal accumulation of neoplastic mast cells mainly in the bone marrow (BM) but also in other organs or tissues such as the skin. Interestingly, a recent study showed that as high as 30% to 40% of SM-AHN cases had associated eosinophilia, which should be distinguished from platelet-derived growth factor receptor α(PDGFRA) translocation–associated myeloid neoplasms through molecular studies; the latter neoplasms can also have loose proliferations of CD25-positive MCs. In Diagnostic Pathology: Blood and Bone Marrow (Second Edition), 2018, May not differ significantly from age-matched controls, Defined as indolent SM but with 2 or more "B" findings, In one study, outcome inferior to indolent disease, Defined as SM but with 1 or more "C" findings, Skeletal osteolytic lesions &/or pathologic fracture, Gastrointestinal dysfunction resulting in weight loss, Rapidly progressive disease (aggressive SM)/mast cell leukemia, H-P Horny, in Blood and Bone Marrow Pathology (Second Edition), 2011, Indolent SM (ISM) is the most frequent subtype of the disease. Indolent systemic mastocytosis (ISM) zoom picture. How can we measure that improvement faster and more effectively, and accelerate clinical trials? Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused by the accumulation of functionally defective mast cells (also called mastocytes) and CD34+ mast cell precursors.. People affected by mastocytosis are susceptible to a variety of symptoms, including itching, hives, and anaphylactic shock, caused by the release of histamine and other pro . Signs and symptoms vary based on which parts of the body are affected. Most patients have an acute presentation, but rare patients with chronic MCL have been described. However, isolated bone marrow mastocytosis with associated MRS also exist; these patients generally have similar clinical courses as those of patients with usual ISM. This disease doesn't usually develop in children. Many of the symptoms can seem unrelated and, at first, they can be difficult to diagnose correctly. Get the latest research information from NIH: https://covid19.nih.gov (link is external). Indolent Systemic Mastocytosis. MSC OFF. Presented at the 25th European Hematology Association Congress 2020, 11‒14 June 2020, virtual format. When I googled indolent systemic mastocytosis one of the options was the new ICD 10 code for 2011. A: A multivitamin and mineral supplement is a good idea. 20.10C and D). It is characterized by diffuse infiltration of the bone marrow by atypical and/or immature mast cells, and often presence of mast cells in the peripheral blood. Indolent systemic mastocytosis (SM) patients have a varied clinical presentation, ranging from predominantly cutaneous symptoms to recurrent systemic symptoms (eg, flushing, palpitations, dyspepsia, diarrhea, bone pain) that can be severe and potentially life threatening (anaphylaxis). In particular, AML with t(8;21)(q22;q22.1); RUNX1-RUNX1T1 has been reported to have an association with MC disease, up to 12.5% in one study. He does not have other health problems and is very active. Dong Chen MD, PhD, Tracy I. George MD, in Hematopathology (Third Edition), 2018. Mast cell sarcoma is another extremely rare lesion consisting of an infiltrating growth of atypical and/or immature mast cells with a potential of distant metastasis or progression to a leukemic phase. 1. Recent clinical studies. The pattern of infiltration and the morphologic features of the cells may resemble those of hairy cell leukemia. In many of these patients, KITD816V mutation is not limited to the SM compartment but can be detected in a significant proportion of malignant cells of hematological disorder, especially when analyses are performed using microdissection technique.13, CMML is the hematological disorder most frequently associated with SM. Some cases of ISM may progress to the next category discussed, smoldering SM (SSM). Aggressive Systemic Mastocytosis. Indolent systemic mastocytosis (ISM) typically progresses slowly or not at all. Indolent systemic mastocytosis (ISM) typically progresses slowly or not at all. other associated disorders, if known, such as:; chronic myeloid leukemia (C92.10-C92.22); essential thrombocythemia (D47.3); Gaucher disease (E75.22); hypertensive chronic kidney disease with end stage renal disease (I12.0, I13.11, I13.2); hyperthyroidism (E05.-); hypothyroidism (E00-E03); polycythemia vera (D45); sarcoidosis (D86.-);Group 5 pulmonary hypertension; Pulmonary hypertension with . Prithviraj Bose, MBBS, MD Anderson Cancer Center, Houston, TX, discusses the potential of avapritinib to address the unmet needs of patients with indolent systemic mastocytosis. Indolent systemic mastocytosis (ISM) refers to cases with relatively low burden of mast cells and therefore to an indolent clinical course and good prognosis. Methods . Mast cells are a part of the body's immune system and help to regulate allergic reactions. Objective Here we investigate the prognostic impact of the clinical, biological, phenotypic, histopathological, and molecular disease characteristics in adults with indolent systemic mastocytosis, who were . It is a heterogeneous disorder with clinical manifestations ranging from skin lesions alone to aggressive multi-organ infiltration and decreased survival. Learn the symptoms, diagnosis, and treatments for this condition, which causes a buildup in your body of too many mast cells -- a . 90, 250–262), Diagnostic Pathology: Blood and Bone Marrow (Second Edition), Blood and Bone Marrow Pathology (Second Edition), Diagnostic Pathology: Lymph Nodes and Extranodal Lymphomas (Second Edition). The most frequently detected immunophenotypic profile of BM MC in ISM is compatible with an activated MC immunophenotype, both in patients that show (s+) or do not show (s−) skin lesions (Alvarez-Twose et al., 2010), usually associated with a good prognosis (Escribano et al., 2009). Valent P, Sperr WR, Akin C. How I treat patients with advanced . Indolent Systemic Mastocytosis. In a multivariate analysis, independent adverse prognostic factors included advanced age, weight loss, anemia, thrombocytopenia, hypoalbuminemia, and excess BM blasts.11 In addition to an increased percentage of MCs on marrow aspirate smears, Spanish investigators found that multilineage involvement of the KIT D816V mutation in more than just MCs (e.g., other myeloid lineages, and sometimes lymphoid cells) is a poor prognostic factor and leads to an increased risk of progression to advanced SM.24 Many of these patients may suffer from overt SSM. Am. The symptoms of systemic mastocytosis are due to the pathologic accumulation and activation of mast cells in various tissues such as bone marrow, skin, gastrointestinal tract, liver, and spleen. Mastocytosis in a patient with acute myelogenous leukemia. Based on this limited experience, patients with indolent systemic mastocytosis are not at risk for more severe presentations of COVID-19 infection and should remain on mast cell controller medications throughout the infection. Hi, I'm Symptoma. Mastocytosis is a rare disorder that causes mast cells to build up on the skin, intestines, and organs. Information on PatientsLikeMe.com is reported by our members and is not medical advice. Smoldering SM is often considered a subtype of ISM and characterized by a high systemic mast cell burden and with two or more “B” findings, but no “C” findings (Box 14.3). Systemic Mastocytosis affects the whole body. Messages 103 Best answers 0. 14.13). How much good can your data do? It is important to control disease activity in patients with SM. (H&E 200×) Overview: Systemic mastocytosis (SM) results from a clonal proliferation of abnormal mast cells (MCs) in extra-cutaneous organs. Let’s build this page together! Indolent systemic mastocytosis is the presence of too many mast (mastocytes) cells in the bone marrow and skin. This is the American ICD-10-CM version of D47.02 - other international versions of ICD-10 D47.02 may differ. Similarly, serum tryptase levels are important to document that the disease remains stable (haematologically) in patients with ISM (stable low baseline levels) and SSM (high but still stable tryptase levels). Post May 17, 2012 #1 2012-05-17T18:10. My file is at the Ratings board and I have still not officially received them back from the PEB at this point. I have had ISM symptoms for over 10 years but acute symptoms for the last 9 months. Typical ISM is characterized by modest (<30%) bone marrow involvement with multifocal dense infiltrates of MCs in a background of normocellular marrow with normal hematopoiesis, an indolent clinical course, and the presence of maculopapular skin lesion in most cases (Fig. ADvSM has three . (400×) Download Image. What improves health and life for different people, and why? A content-valid patient-reported outcome (PRO) questionnaire that assesses relevant signs and symptoms that are important and understandable to individuals with a condition is . Systemic mastocytosis (SM) comprises a heterogeneous group of disorders characterized by the proliferation of clonal mast cells in skin and various internal organs. Other important follow-up parameters that can be employed as markers of disease control are blood counts, serum chemistry, the T-score, and ultrasound of the spleen. Patients and doctors enter symptoms, answer questions, and find a list of matching causes - sorted by probability. D47.02 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. BM MGG (1000×) This picture of bone marrow smear shows two tumour cells in a case of systemic mastocytosis. Symptoms do not always worsen with time. (For interpretation of the references to color in this figure legend, the reader is referred to the Web version of this chapter. It is characterized by leukemic bone marrow infiltration by neoplastic MCs, often immature MCs. Systemic mastocytosis occurs when white blood cells called mast cells, which are produced in bone marrow, abnormally accumulate in one or more tissues. Mast cell leukemia is a rare condition accounting for less than 1% of mast cell disorders. Systemic mastocytosis, often termed systemic mast cell disease (SMCD), is a heterogeneous clonal disorder of the mast cell and its precursor cells. We monitored sBT levels in indolent SM (ISM) patients and investigated its utility for predicting disease behaviour and outcome. Overt SM is present in about 5% of these patients. Please contact [email protected] for permission to reprint and/or distribute Results from PIONEER: A Randomized, Double-blind, Placebo-controlled, Phase 2 Study of Avapritinibin Patients with Indolent Systemic Mastocytosis (ISM) Patients are typical of other patients with ASM in that hepatosplenomegaly and extensive bony involvement are present. ASM is characterized by a progressive infiltration of various organs by neoplastic MCs with consequent impairment of organ function. Symptoma is a Digital Health Assistant & Symptom Checker. The disorder is usually caused by somatic changes ( mutations . Indolent Systemic Mastocytosis. Rating for Indolent Systemic Mastocytosis? Patients present with severe symptoms related to mast cell invasion and the intense release of mediators . Indolent systemic mastocytosis - 2. Systemic mastocytosis. (B) Mast cell in a peripheral blood smear. Systemic mastocytosis is defined by the presence of one major and one minor criterion or 3 minor criteria delineated by the World Health Organization (WHO). In Diagnostic Pathology: Lymph Nodes and Extranodal Lymphomas (Second Edition), 2018, SM with associated clonal hematological nonmast cell lineage disease, SM includes indolent to aggressive disease, Less often: Spleen, lymph nodes, and liver ± skin, Patients with indolent SM usually have normal life expectancy, Interferon-α and corticosteroids used to relieve symptoms, Excellent prognosis for patients with indolent SM, Laura Sánchez-Muñoz, ... Luis Escribano, in Methods in Cell Biology, 2011. Previously, SSM was described as a subcategory of ISM, but the 2017 World Health Organization classification of hematolymphoid neoplasms redefined SSM as a distinct . Clinicopathological findings in systemic mastocytosis. It may also be necessary to control disease parameters and clinical symptoms within closer time intervals. (adapted from Pardanani, A., 2015. We present the . Learn more about Indolent Systemic Mastocytosis from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool. A combination of at least two “B” findings (see Box 20.1) without “C” findings is indicative of smoldering SM. A suggested order of treatment options for adult patients with indolent systemic mastocytosis, aimed at symptom control, and including suggested therapies for osteoporosis, can be found in Table 3 of this article from the American Journal of Hematology. A whole lot, as co-founder Jamie Heywood explains in this video. Systemic Mastocytosis with an Associated Hematologic Neoplasm. Indolent systemic mastocytosis. Symptoma empowers users to uncover even ultra-rare diseases. 13. BM biopsy showing >30% infiltration by mast cells (focal, dense aggregates) and/or serum total tryptase level >200 ng/mL. In addition to the anti-mediator drugs, patients with CM may receive psoralen and ultraviolet-A. If you still have questions, please Advanced systemic mastocytosis (SM)* is a systemic disease, which means that it affects the whole body. Blood counts and skin were normal. Figure 14.12. Views: 4012. High expression of ACE2 receptor of 2019-nCoV on the epithelial cells of oral mucosa. Indolent systemic mastocytosis, including the subvariant of smouldering systemic mastocytosis, is a lifelong condition associated with reduced quality-of-life. It is estimated that up to 30% of patients with SM will have an associated clonal non-MC hematologic neoplasm, with this typically being a myeloid neoplasm (Fig. The majority of patients with ISM have UP and show evidence of systemic involvement but lack C-findings. 67(3):431-8. . Lithium carbonate wasn't helping ALS patients, and we learned it faster than the clinical trials did. Prognosis is extremely poor, with an estimated survival of 6–12 months. Advanced systemic mastocytosis (AdvSM), indolent systemic mastocytosis (ISM), and smoldering systemic mastocytosis (SSM) are rare diseases characterized by neoplastic mast cell infiltration of more than one organ. Skeletal involvement with large osteolytic lesions and/or pathological fractures. Mastocytosis can be categorized into cutaneous mastocytosis and systemic mastocytosis. Two subtypes of ISM have been described: smoldering systemic mastocytosis (SSM) and isolated bone marrow mastocytosis (BMM). ISM accounts for >80% of all cases of SM. It is now classified as a myeloproliferative neoplasm (MPN) as per the 2008 revision of the WHO classification of myeloid neoplasms. 20.10A and B). From: Atlas of Hematopathology (Second Edition), 2018, Faramarz Naeim, ... Wayne W. Grody, in Atlas of Hematopathology, 2013. Epub 2021 Mar 2 doi: 10.1080 . About Systemic Mastocytosis. Furthermore, an activated phenotype with increased expression of CD63, CD69, and CD203c proteins, associated with expression of both CD64 and MHC class II molecules – HLA-DR and HLA-DQ – is detected in these patients (Fig. Symptoma is a Digital Health Assistant & Symptom Checker. Avapritinib is a type of tyrosine kinase inhibitor approved by the FDA and used in adults . Latest Blog. Systemic mastocytosis (SM) is a form of mastocytosis in which mast cells accumulate in internal tissues and organs such as the liver, spleen, bone marrow, and small intestines. R. rachell1976 Guru. This is the American ICD-10-CM version of D47.02 - other international versions of ICD-10 D47.02 may differ. I have recently undergone tryptase bloodwork (77) which led me to bone marrow biopsies, bloodwork, genetic testing, etc. There are 2 main types of mastocytosis: cutaneous mastocytosis, which mainly affects children - where mast cells gather in the skin, but are not found in large numbers elsewhere in the body. Mast cells stain positive (brown) for CD117 (c-kit). 20.9B). ISM represents 90% of all cases of systemic mastocytosis. J. Hematol. About indolent systemic mastocytosis. Indolent Systemic Mastocytosis. Figure 14.11. On June 16, 2021, the Food and Drug Administration approved avapritinib (Ayvakit™, Blueprint Medicines Corp.) for adult patients with .

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