Cases reported "Mastocytosis, Cutaneous"

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1/9. Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL.

    mastocytosis comprises a heterogeneous group of hematological disorders which are morphologically defined by proliferation and accumulation of tissue mast cells in one or more organs. Clinical manifestations of mastocytosis range from disseminated maculopapular skin lesions (= urticaria pigmentosa [UP]) that may spontaneously regress to highly aggressive neoplasms like mast cell leukemia or mast cell sarcoma. Recently, it could be shown that systemic mastocytosis (SM) is a clonal disorder often exhibiting mutations of c-kit, a protooncogene encoding the tyrosine kinase receptor for stem cell factor (SCF). Mutations of c-kit are considered to play a key role in the pathogenesis of mastocytosis. Therefore, we investigated the unique case of a 36 year-old male patient with indolent systemic mastocytosis (ISM) evolving from UP (cutaneous mastocytosis) by means of histology, immunophenotyping and molecular biology. At the time of initial diagnosis the bone marrow showed only a mild diffuse increase in mast cells but compact infiltrates were missing. The serum tryptase levels were normal. Five years later, however, the bone marrow histology displayed patchycompact mast cell infiltrates, which now allowed to establish the diagnosis of an ISM. The serum tryptase levels at this time were markedly elevated. At both time points, mast cells were analyzed by immunohistochemistry using anti-tryptase antibody AA1, by flow cytometry using antibodies against CD2 and CD25, and nested polymerase chain reaction (PCR) on laser-microdissected, single pooled mast cells. immunohistochemistry revealed strong tryptase-positivity of mast cells in both cutaneous and bone marrow infiltrates. flow cytometry yielded an aberrant expression of CD2 and CD25 on bone marrow mast cells. However, repeated thorough PCR analysis failed to unveil c-kit mutation in atypical mast cells of skin and bone marrow samples of both dates. These findings clearly show that ISM can evolve from UP. Moreover, our study provides further evidence that the c-kit mutation Asp-816-Val is not invariably present in ISM. ( info)

2/9. Scarring alopecia associated with mastocytosis.

    BACKGROUND: mastocytosis is comprised of a group of heterogeneous diseases involving various organs. urticaria pigmentosa is the most common manifestation of cutaneous mastocytosis; others include mastocytoma, diffuse mastocytosis, and telangiectasia macularis eruptiva perstans. methods: We describe a case of indolent mastocytosis presenting as scarring alopecia. The scalp biopsy revealed a perifollicular and dermal inflammatory infiltrate composed predominantly of mast cells, which was confirmed by tryptase and Giemsa stains. RESULTS: The preponderance of mast cells in the biopsy prompted testing for urine N-methylhistamine levels, which were elevated and confirmed the diagnosis of mastocytosis. This is the first report of mastocytosis presenting as scarring alopecia. CONCLUSIONS: This case suggests that the diagnosis of mastocytosis should be entertained in patients presenting with scarring alopecia accompanied by an intense mast cell infiltrate on scalp biopsy and also supports the notion that mast cells may be involved in the pathogenesis of alopecia. ( info)

3/9. Presentation of telangiectasia macularis eruptiva perstans as a long-standing solitary plaque associated with renal carcinoma.

    BACKGROUND: mastocytosis is a rare disease characterized by a primary pathological increase in mast cells in different tissues. The skin is the most frequently affected organ. Cutaneous mastocytosis, including urticaria pigmentosa, solitary mastocytoma, diffuse cutaneous mastocytosis, and telangiectasia macularis eruptiva perstans (TMEP), is usually distinguished from systemic mastocytosis. TMEP is characterized mainly by telangiectatic macules. OBJECTIVE AND methods: We report a case of TMEP with an unusual clinical presentation as a solitary plaque of telangiectatic macules. A renal clear cell carcinoma was detected in a workup for systemic mastocytosis. We discuss the clinical and histological findings and treatment of TMEP. CONCLUSIONS: TMEP is a rare form of mastocytosis, which occurs mainly in adults, generally has a good prognosis, and little tendency to urticate or show constitutional symptoms. Clinicians should consider this disorder when confronted with a progressive atypical telangiectatic lesion. However, the malignant neoplasm also found in this patient is of uncertain significance. ( info)

4/9. Bullous mastocytosis treated with oral betamethasone therapy.

    Bullous mastocytosis is a very rare variant of cutaneous mastocytosis. The condition is characterized by a diffuse infiltration of the skin by mast cells manifesting as yellowish, thickened doughy skin with appearance of large blisters. The authors report herewith a 7-month-old female infant with history of recurrent episodes of vesiculobullous lesions on the face, trunk and the extremities and excessive tendency to rub and scratch the skin for 3 months. She also had recurrent episodes of facial flushing. On cutaneous examination there were multiple flaccid bullae, urticarial wheals and crusted erosions on her scalp, face, neck, trunk and extremities. She had generalised yellowish thick and rough skin, giving doughy feel and 'peau d' orange' appearance of the skin at places. Systemic examination was within normal limits. skin biopsy from a lesion showed subepidermal bulla and an upper dermal inflammatory infiltrate comprising of lymphocytes and many mast cells. Toluidine blue staining of the cells showed presence of metachromatic granules in these cells. A diagnosis of bullous mastocytosis was made and the patient was treated with oral antihistamines to which there was no satisfactory response. betamethasone in a dose of 0.1 mg/kg/day given orally caused complete remission of the disease in 4 weeks. The drug was gradually tapered and stopped over the next 6 weeks. There were no side effects of the therapy. ( info)

5/9. Telangiectasia macularis eruptiva perstans with an associated myeloproliferative disorder.

    Telangiectasia macularis eruptiva perstans (TMEP) is a cutaneous form of mastocytosis. It has been rarely associated with an underlying myeloproliferative disorder. We report the case of a patient, while receiving treatment for thrombocytosis, with both platelet production and function inhibitors presented with TMEP. TMEP is often refractory to therapy; however, our patient responded to treatment with PUVA. ( info)

6/9. An unusual presentation of mastocytosis: unilateral swelling of the vulva.

    mastocytosis is a primary, abnormal accumulation of mast cells associated with a broad range of local and systemic symptoms. We report two female adolescents with episodic, unilateral, swelling of the labia majora that was discovered to be an unusual presentation of mastocytosis. mastocytosis is frequently misdiagnosed because of its rarity and variable clinical presentation, which often mimics other conditions. In the appropriate setting, mastocytosis should be included in the differential diagnosis of labium majus swelling. ( info)

7/9. Two cases of telangiectasia macularis eruptiva perstans demonstrated by immunohistochemistry for c-kit (CD 117).

    Telangiectasia macularis eruptiva perstans (TMEP) is an uncommon form of cutaneous mastocytosis that occurs exclusively in adults. Histologically, TMEP presents with scattered mast cells lined up around the dilated capillaries and venules of the superficial vascular plexus. In some cases, the number of mast cells falls within the range observed in normal skin and therefore cannot be detected by routine histologic examination. We used immunohistochemical staining for c-kit (CD 117) for the definitive diagnosis in two patients with TMEP. One of them was successfully treated with topical application of pimecrolimus. ( info)

8/9. Nodular mastocytosis.

    mastocytosis refers to a group of disorders characterized by the pathologic proliferation of mast cells. We present a 70-year-old white man with a rare presentation of nodular mastocytosis, characterized by disseminated nodular lesions, myelodysplastic syndrome, and a c-kit V560G receptor mutation. The patient presented to the clinic after initial presentation 6 months earlier, with ear pruritus, associated hearing loss, and widespread rash. ( info)

9/9. Cutaneous mastocytosis in a patient with primary sjogren's syndrome.

    mast cells have been linked to rheumatoid arthritis (RA) and are essential to the pathogenesis of RA-like disease in a mouse model. We describe a 34-year-old woman who developed sjogren's syndrome concurrently with telangiectasia macularis eruptiva perstans (TMEP), a rare form of cutaneous mastocytosis. The patient had sicca symptoms with an abnormal minor salivary gland biopsy and decreased salivary flow, peripheral neuropathy, an 80 pound weight loss, and a macular erythematous rash that exhibited superficial perivascular mast cell infiltrates on biopsy of lesional skin. This case further underscores the link between mast cells and the development of autoimmunity. ( info)

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