Search

We had our suspicions as to the diagnosis, but a particular sign was missing. The biopsy settled things.

Systemic mastocytosis (SM) is characterized by pathologic expansion and activation of mast cells. The main clinical manifestations of SM include skin involvement, gastrointestinal symptoms and anaphylaxis due to the release of its mediators. Thirty percent of pat ients with SM have a low bone mass and 20% fractures. At the same time, SM affects 10% of male patients with idiopathic osteoporosis. Measuring serum tryptase is essential for the screening of MS. We report two cases of SM with bone involvement. A 25-year- old woman with prior diagnosis of SM, based on skin involvement, flushing, high serum tryptase and compatible bone marrow (BM) biopsy and genetic study. Low bone mass was diagnosed and treatment was started with calcium and vitamin D plus oral bisphosphona tes with adequate response. A 47 years old man who presented with multiple osteoporotic vertebral fractures and low bone mass. Treatment with vitamin D and alendronate was started, but the patient developed new vertebral fractures. The study was extended w ith measurement of serum tryptase that was elevated. Diagnosis of SM was confirmed with BM biopsy and the patient was referred to hematology for specific care. These cases emphasize the importance of bone assessment in SM, as well as the need to rule out S M in patients with osteoporosis and no evident cause.

Background: Systemic mastocytosis is characterised by abnormal proliferation of mast cells in various organs. We report an original case of systemic mastocytosis revealed by vulvar oedema., Patients and Methods: A 24-year-old patient was examined in the dermatology department for vulvar oedema appearing during sexual intercourse. She presented vasomotor dysfunction of the lower limbs, urticaria on the trunk on exertion, diarrhoea and bone pains. Laboratory tests showed serum tryptase of 29.7μg and plasma histamine at twice the normal value. Myelogram results showed infiltration by dysmorphic mast cells. Screening for c-kit D816V mutation was positive. Duodenal biopsies revealed mast-cell clusters with aggregation involving over 15 mast cells. CD2 staining was inconclusive and CD25 staining could not be done. Trabecular osteopenia was found, and we thus made a diagnosis of indolent systemic mastocytosis (ISM variant Ia) as per the WHO 2008 criteria. Symptomatic treatment was initiated (antiH1, H2, antileukotrienes) and clinical and laboratory follow-up was instituted., Discussion: The cutaneous signs leading to diagnosis in this patient of systemic mastocytosis involving several organs were seemingly minimal signs associated with mastocyte degranulation. This is the third recorded case of mastocytosis revealed by vulvar oedema and the first case revealing systemic involvement. The two previously reported cases of vulvar oedema revealed cutaneous mastocytosis alone. Mastocytosis, whether systemic or cutaneous, must be included among the differential diagnoses considered in the presence of vulvar oedema., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Paediatric mastocytosis was previously considered to be a benign and spontaneously regressing disease. However, this evolution is impossible to predict. To clarify the characteristics and course of paediatric mastocytosis, we performed a literature review of 1747 cases published between 1950 and April 2014. Lesions occurred before the age of 2 years in 90% of cases, and presented as urticaria pigmentosa (75% of cases), mastocytoma (20%) or diffuse cutaneous mastocytosis (5%). The male-to-female ratio was 1·4. KIT D816V mutation was detected in 34% of 215 tested patients. Clinical regression (complete or partial) occurred in 67% of cases and stabilization in 27%. However, the outcome was fatal in 2·9% of patients., (© 2015 British Association of Dermatologists.)

We describe two patients with newly diagnosed dermatoses localizing to the radiotherapy field following treatment for breast cancer. Patient 1 was a 53-year-old woman who developed bullous morphoea on her left breast two years after radiotherapy. Patient 2 was a 43-year-old woman who developed urticaria pigmentosa on her right breast eight months after radiotherapy and similar lesions gradually developed beyond the radiotherapy field. Both patients experienced a significant delay in diagnosis due to diagnostic confusion and concern over breast cancer recurrence. Irradiated skin demonstrates gradual and sustained alterations in fibrosis due to the production of long-lived cytokines and chemokines. These changes can induce a koebnerizing response in conditions such as morphoea and urticaria pigmentosa. We explore the mechanisms behind radiotherapy-induced skin changes, and highlight the potential for radiotherapy to exacerbate or unmask underlying dermatoses and systemic disease in the months and years following treatment., (© 2014 British Association of Dermatologists.)

Ionising radiation is often used as an adjuvant in the management of breast cancer. Acute and chronic skin changes are well recognised complications associated with its use. We demonstrate a rare clinical presentation of cutaneous mastocytosis that occurred at the site of radiotherapy and then extended beyond this boundary, and ask whether this can be treated as a localised side effect of radiotherapy or whether the potential for systemic mastocytosis needs to be excluded., (© 2012 The Authors. Australasian Journal of Dermatology © 2012 The Australasian College of Dermatologists.)

Objective: To identify complications of mastocytosis that impact the nervous system across a large cohort., Patients and Methods: In this retrospective series, we reviewed the electronic medical records of adult patients with a diagnosis of mastocytosis who were referred to a Neurologist at Mayo Clinic in Rochester, MN from January 1, 1999 to December 31, 2008., Results: Thirty patients were identified who presented to a Neurologist with symptoms potentially related to the mast cell disease. Twelve of these patients presented with complex spells involving syncope, which frequently preceded a formal diagnosis of mastocytosis. Nine individuals presented with acute back pain which was ultimately deemed symptomatic of vertebral compression fractures. One individual experienced spinal cord compression from a vertebral mast cell infiltrate. Headaches were reported in 78/223 (35%) total patients with mastocytosis. Although details of headaches were insufficiently ascertained to diagnose most, the five individuals in our referral cohort met International Headache Society (IHS) criteria for migraine. Finally, three individuals (1.3%) were identified with multiple sclerosis occurring at variable times after the mast cell diagnosis., Conclusion: Symptoms related to mastocytosis may be encountered by neurologists and mimic many common, often idiopathic syndromes including, syncopal spells, back pain, and headache. In our cohort, multiple sclerosis may be over-represented. Mastocytosis should be considered in patients with these presentations, especially when also accompanied by flushing, abdominal cramping or diarrhea., (Copyright © 2011 Elsevier B.V. All rights reserved.)

A 38-year-old woman presented with a pronounced increase in symptoms and proliferation of urticaria pigmentosa (UP) after acute psychological stress, which was quantified using the Spielberger's State-Trait Anxiety Inventory. Immunohistochemical examination of a skin biopsy from a new UP lesion showed a large number of activated mast cells expressing corticotrophin-releasing factor receptor-1 (CRF-R1) and there was high serum CRF. This is the first documented report to our knowledge of UP worsening associated with acute stress, possibly through activation of skin mast-cell CRF-R1.

Background: The efficacy and safety of UVA1 (340-400 nm) phototherapy were established by studies from European countries., Purpose: Evaluate experience with UVA1 phototherapy for patients with cutaneous diseases in the United States., Methods: A retrospective analysis of 92 cases of UVA1-treated cutaneous conditions from four medical centers in the United States was performed., Results: Two-third of the patients showed a fair to good response (26-100% improvement) and one-third of the patients showed a poor response (0-25% improvement). Diseases with a moderate to good response (51-100% improvement) included scleredema adultorum, hand or foot dermatitis, atopic dermatitis, morphea (medium or medium- to high-dose UVA1), systemic sclerosis, and urticaria pigmentosa. Besides tanning, other adverse effects were found in 15% of patients, which include pruritus, erythema, tenderness, and burning sensation. Patients with skin types I-III responded better that those with a darker skin type., Conclusion: UVA1 phototherapy is a useful and well-tolerated treatment option for a variety of skin conditions.

Mastocytosis refers to a rare collection of disorders, both cutaneous and systemic, that are characterized by increased numbers of mast cells. Depending on the extent of the disease, these disorders may present with symptoms resulting from mast cell degranulation including flushing, diarrhea, vomiting, cramping, syncope, or anaphylaxis. In pediatric patients, cutaneous involvement is most prevalent in the form of urticaria pigmentosa, which is typically asymptomatic or minimally so with resolution by adolescence. In this case report and review of literature, we review a case of a 3-year-old child with uritcaria pigmentosa displaying recurrent syncope and anaphylaxis as the first presentation of systemic mastocytosis. We found data to be limited on this topic, and concluded that pediatric patients with prior diagnoses of cutaneous mastocytosis could benefit from either more aggressive screening for systemic disease or prophylactic treatment with antihistamines and rescue subcutaneous epinephrine.

Anaphylaxis associated with insect stings has been reported to cause approximately 40 deaths per year in the United States. Immunotherapy with venom extracts is a well-established method of treatment of allergy to insect stings. The duration of therapy is based mainly on the initial symptoms and the presence or absence of systemic symptoms during therapy. Evaluation of immunoglobulin E and immunoglobulin G levels as well as repeat skin tests and sting challenges may also provide some additional benefit but are not as useful as the former two criteria. Patients with mastocytosis have a particularly increased risk for anaphylaxis after insect stings. There are many case reports of individuals first diagnosed with mastocytosis after an episode of anaphylaxis after an insect sting, in addition these patients tend to have more severe reactions as well as repeated episodes of systemic reactions during immunotherapy. Early diagnosis of mastocytosis and proper treatment can contribute greatly to the outcome in patients who present with venom allergy.

Background: Ant sting reactions are becoming an increasing problem in tropical countries. It is important for physicians to be aware of their possible cutaneous and systemic manifestations., Methods: A child with a severe allergic reaction to an ant sting was examined and is discussed. This is the first case described in the literature caused by the ant Odontomachus bauri, and the biology of the ant and the clinical signs in the patient are described., Results: A child developed a strong allergic reaction to an ant sting. The case was not associated with a previous ant sting. Treatment with the systemic antihistamine loratadine (Clarityn) was favorable in this patient., Conclusions: In tropical areas, ant stings are usually benign, self-limited pathologic processes. In some cases, however, severe allergic reactions can develop, including urticaria and anaphylactic shock. Physicians should be aware of the possible complications of ant stings.

Mastocytosis is diagnosed without difficulty if it presents with easily recognizable lesions of urticaria pigmentosa. Recently, we have identified hardly visible skin lesions of mastocytosis in Hymenoptera venom allergic patients ("occult mastocytosis"). In addition, in approximately 15% of the patients with typical cutaneous lesions, urticaria pigmentosa was at first mistaken for other conditions and thus not linked to simultaneous symptoms of systemic mastocytosis. In most patients with unrecognized mastocytosis, the diagnosis was supported by raised basal serum tryptase levels. Cutaneous mastocytosis is often overlooked and more frequent than assumed. Measurement of basal serum tryptase concentrations can make an important contribution to the diagnosis of mastocytosis, but it does not replace a meticulous skin examination.

We describe a 33-year old man suffering from severe vertebral osteoporosis and urticaria pigmentosa due to systemic mast cell disease (SMCD). Because i.v. clodronate therapy could not prevent further vertebral fractures, an additional treatment with interferon alpha-2b was initiated. During 24 months of treatment, our patient had no further pain episodes, no new vertebral fractures were discovered, trabecular bone mineral density (BMD) increased significantly and urticarial symptoms improved. Nevertheless, the extent of skin lesions remained unchanged. On histological examination, a remarkable decrease of mast cells was observed in the bone marrow, but not in the skin. Five months after discontinuation of interferon alpha-2b, trabecular BMD decreased and urticarial symptoms deteriorated. These findings illustrate a beneficial effect of interferon alpha-2b on SMCD-induced osteoporosis as well as urticarial symptoms, and raise the question whether this treatment may have a diverse impact on mast cell population in different tissues.

Background: Telangiectasia macularis eruptiva perstans, a rare form of cutaneous mastocytosis associated with elevated histamine excretion, has not previously been reported to complicate pregnancy., Case: A woman presented in the late second trimester with an anaphylactoid reaction, rash, uterine contractions, and vaginal bleeding. Skin biopsy revealed perivascular mast-cell infiltration. Her urinary histamine excretion was markedly elevated. She was treated successfully with tocolytics and antihistamines., Conclusion: Elevated histamine excretion in biopsy-proven cutaneous mastocytosis may be associated with preterm labor.

The authors report three cases of syncope due to systemic mastocytosis. This is a rare cause of syncope but should be recalled in certain circumstances. In the light of these cases, the authors review the literature with respect to this unusual presentation. Syncope may occur at any age. Loss of consciousness may be more or less complete, brief or prolonged, isolated or recurrent and usually accompanied by prodromal symptoms. The least controversial physiopathogenic mechanism of these syncopes is intense vasoplegia induced by the release of vasoactive mediators, especially histamine. When there is a clinical suspicion of mastocytosis, even in the absence of skin changes, the diagnosis is confirmed by biopsy which shows abnormally high numbers of mastocytes irrespective of the organ biopsied. The treatment of acute forms with collapse is based on intravenous infusion of macromolecular fluids and injections of epinephrine. Prevention is by drugs which inhibit the synthesis of histamine, the degranulation of mastocytes and the production of prostaglandin D2.

Systemic mastocytosis is a rare and chronic disorder characterized by a pathologically increased number of mast cells in various tissues and overproduction of mast cell mediators. From a group of 15 patients (10 females, 5 males) with systemic mastocytosis five female patients presented with a history of an anaphylactoid shock reaction to wasp sting. Three of them had no demonstrable specific IgE against wasp or bee venom in serum, and a skin test that was only weakly positive for wasp venom. One patient had specific IgE against wasp venom and a clearly positive skin test to wasp venom. The other patient had specific IgE against both wasp and bee venom and a skin test that was only weakly positive to wasp venom. Two patients had to stop a hyposensitization procedure because of systemic side effects. The five patients did not differ from the other patients with systemic mastocytosis with regard to either clinical symptoms and signs or urinary excretion of histamine metabolites. From the latter group two female and three male patients said they had been stung by a wasp in the past. Thus, anaphylactoid shock after Hymenoptera sting can be a presenting symptom of systemic mastocytosis and may be caused by an IgE- as well as a non-IgE-mediated mechanism. In cases of anaphylactoid reaction to Hymenoptera sting, especially when there is no IgE demonstrable in serum or in cases of intolerance of hyposensitization, the diagnosis of systemic mastocytosis should be considered, also in the absence of the clinical hallmarks of urticaria pigmentosa.

Two males aged 12 and 38 years presented with widespread severely pruritic blackish spots for 15 days. Widespread slate-grey patches and erythematous hyperpigmented plaques were observed with a positive Darier's sign. There were associated neck swellings, abdominal pain, anorexia, weight loss and bleeding gums in both. Peripheral blood and bone marrow showed blast cells, anaemia and thrombocytopenia. Cell surface markers confirmed the presence of acute lymphoblastic leukaemia. Skin biopsy showed an infiltrate of lymphoblasts as well as mast cells. Partial response was noted with cytotoxic therapy in 1 patient. Thus lesions mimicking urticaria pigmentosa may be the presenting sign of acute lymphoblastic leukaemia.

Systemic mast cell disease is a rare condition, in which the frequent involvement of bones is likely to raise diagnostic problems. There are other concomitant visceral involvement as a rule. The skin lesions, if present and recognized, are suggestive. The positive diagnosis of bone lesions can be ensured by biopsy. On the basis of one clinical case, we specify the clinical and radiological appearance of systemic mast cell disease.

A 48 year old male patient presented with maculopapular rash, pruritus, peptic ulcer disease and attacks of headache and vertigo. Rubbing of the cutaneous lesions led to urticarial whealing which is indicative of abnormal mast cell proliferation in the cutis. Histologic evidence of abnormal mast cell proliferation in biopsy specimens of skin and bone marrow led to the diagnosis of systemic mastocytosis. Treatment with H1 and H2 receptor antagonists was started.

A 41-year-old male patient developed cutaneous mastocytosis 3 months after autologous bone marrow transplantation (ABMT). The ABMT was performed as part of consolidation treatment for a high-grade malignant non-Hodgkin's lymphoma. There was no evidence for systemic mastocytosis. Recurrence of the lymphoma could not be shown. Mast cell proliferation frequently coexists with dysplastic and neoplastic disorders of myeloid and, more rarely, of lymphoid cells. Mast cells are growth factor responsive and ultimately originate from the pluripotent hematopoietic stem cell. After autologous bone marrow transplantation, hematological reconstitution may in rare cases lead to an abnormal proliferation of mast cells possibly due to unbalanced production of growth factors.

Adolescent patients are often affected by dermographic, cholinergic, cold or solar urticaria brought about by distinct physical stimulation. These physical forms of urticaria as well as cutaneous and systemic mastocytosis are due to the release of inflammatory mediators from the mast cells. As these diseases usually show characteristic cutaneous symptoms, they can easily be distinguished from other subtypes of urticarial reaction. In order to make the reader familiar with physical urticaria and mastocytosis, we describe the clinical features, pathogenic factors, and therapeutic possibilities of these disorders in adolescence.

Paraneoplastic conditions are cancer-connected but are not produced as a direct effect of the tumor or metastasis. Some antedate the appearance of the internal malignancy; some run a course parallel to the tumor; some follow a pattern independent of the neoplasm. They occur in a small minority of patients with cancer and are, for the most part, of unknown cause. When an external disorder is present, it may act as a marker of hidden malignancy and thus contribute to its detection, or it may serve as an indicator of successful treatment. Many of the conditions described occur commonly without any underlying malignancy, but an unusual frequency of association with cancer makes their presence significant.

A 44 years old male is reported who had aquired dermatochalasis and urticaria pigmentosa at the same time. This is interpreted as a subsequent phenomenon of a dermatosparaxis endoplasmatica. Clinic, histology and electron microscopy are elaborated. Systemic involvement is verified by x-rays. Histologically, predominant is the severe atrophy of the elastica, the collagenous degeneration, the presence of mastocytes, the subepidermal blister formation and the secondary xanthomatosis. The picture deviates from the common dermatosparaxis occuring in calves by the paracrystalline content of the procollagene in the endoplasmatic reticulum as verified by electron microscopy. A severe disturbance of the synthesis of collagene exists in the state of procollagene for which here the term "dermatosparaxis endoplasmatica" is suggested.

A 68-year-old woman suffering from a longstanding urticaria pigmentosa with mast cell infiltrations in bones had two attacks of herpes zoster. The second herpes zoster attack was followed by a severe polyradiculoneuritis (Guillain-Barré syndrome). The sequence of events suggests an immunological deficiency.

Systemic mastocytosis occurred as a fatal event in a patient with long-standing polycythemia vera. The patient had been treated over the course of 21 yr with radioactive phosphorus. Possible relationships between mastocytosis and polycythemia vera, and also between mastocytosis and treatment with ionizing radiation, are discussed. Histopathologic and electron microscopic findings are illustrated. Difficulties in establishing the diagnosis of mast cell disease in this setting are also described.

Mastocytosis represents a spectrum of clinical disorders that results from an aberrant proliferation of tissue mast cells. This disease process may be confined to the skin (cutaneous mastocytosis) or may involve multiple organs (systemic mastocytosis). Parameters that are useful in differentiating cutaneous from systemic disorders include patient age, symptom complex, and clinical signs. A wide range of clinical symptoms may be encountered in patients with mastocytosis which result from the release of pharmacologically potent mast cell mediators. Distinct cutaneous patterns resulting from skin mast cell infiltrates can be helpful in identifying patients with systemic involvement. The diagnosis of mastocytosis is confirmed by demonstrating increased tissue mast cells in involved organs. The overall prognosis for patients with proliferative mast cell disease is relatively good, although a small percentage are at risk for developing a fatal neoplastic disorder (malignant mastocytosis). Treatment of mastocytosis is directed at both inhibiting mast cell degranulation and blocking the potential systemic effects of released secretory products. Future therapeutic advances depend upon an improved understanding of the basic mechanisms involved in mast cell mediator release and the forces that govern mast cell growth and development.