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CASE REPORT |
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| Year : 2007 | Volume
: 52
| Issue : 4 | Page : 201-203 |
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| Bullous mastocytosis |
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Surajit Nayak1, Basanti Acharjya1, Basanti Devi1, Samira Kumar Behera2
1 Department of Skin and VD, MKCG Medical college and Hospital, Berhampur - 760 010, Orissa, India
2 Department of Pathology, MKCG Medical college and Hospital, Berhampur - 760 010, Orissa, India
Correspondence Address:
Surajit Nayak
Department of Skin and VD, MKCG Medical College, Berhampur - 760 010, Orissa
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0019-5154.37728
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 Abstract | | |
Mastocytosis is a condition characterized by the disorderly infiltration of mast cells in several tissues and comprises many different clinical situations varying from indolent cutaneous forms to malignant and systemic conditions. Bullous mastocytosis is a rare variant of cutaneous mastocytosis manifested by the diffuse infiltration of skin by mast cells, where cutaneous bullae is the predominant feature. We present this case for its rarity and diversity.
Keywords: Bullous mastocytosis, mast cell, urticaria pigmentosa
How to cite this article:
Nayak S, Acharjya B, Devi B, Behera SK. Bullous mastocytosis. Indian J Dermatol 2007;52:201-3 |
| Introduction | |  |
Cutaneous form of mastocytosis was recognized over 100 years ago; however, in 1936, Sezary and Chauvillon initiated the term mastocytosis on the basis of the offending cells. [1] The disease is characterized by mast cell hyperplasia in the bone marrow, liver, spleen, lymph nodes, GI tract and skin. [2] Abnormal accumulation of mast cells in skin is known as cutaneous mastocytosis, and this is the most common form of mastocytosis in children having a very good prognosis in comparison to the adult disease. [3] The various categories of mastocytosis are urticaria pigmentosa, mastocytoma, diffuse cutaneous mastocytosis, and telangiectasia macularis eruptive perstans in the order of occurrence. [3] It can occur at any age and demonstrates a slight male-to-female predominance (1.5:1.0). In all the categories of mastocytosis, symptoms are attributed to the excess production of mast cell mediators. Diffuse cutaneous mastocytosis includes two variants: pseudoxanthomatous or xanthelasmoid and the bullous-type variant. [4] Cutaneous mastocytosis in children usually follows a benign course and undergoes spontaneous involution during puberty, [5] except for bullous mastocytosis (BM) having a more reserved prognosis. [6],[7] Darier's sign is considered path gnomonic for this disease and it is manifested by urtication and erythema around the macules following a mild trauma that involves the scratching and rubbing of skin lesions.
| Case Report | | |
A 3-year-old female child presented to our Out Patient Department (OPD) with bullous eruptions and severe pruritus along with recurrent bouts of diarrhea, abdominal pain and vomiting. She was a single child born by normal vaginal delivery with an uneventful birth and neonatal period. She had a history of normal milestone of development and updated vaccination. She was apparently all right till 6 months of age; however, she subsequently started developing bouts of severe itching followed by appearance of erythematous macules and plaques over the same site. In subsequent months, the same course was followed by the appearance of tense bullae and vesicles at same site as well as other sites. Local physician treated her with some antibiotics and antihistamines without any improvement. On examination, she was observed to be a thin child without any systemic complaints. Cutaneous examination revealed multiple tense bullae over the cervical region [Figure - 1] and trunk and multiple excoriated plaques over the trunk indicating ruptured bullae [Figure - 2]. Most of the lesions around the neck and trunk exhibited a confluent pattern with many of the lesions existing individually on the trunk and extremities. The palms, soles and mucous membranes were free. Bullae were present on a nonurticated base containing clear fluid; Darier's sign was positive.
Routine hematological investigations, urine analysis and all other vital parameters were within the normal limits. Skin biopsy was obtained from the trunk and sent for HP study, which showed subepidermal bulla and an upper dermal inflammatory infiltrate comprising lymphocytes and many mast cells [Figure - 3]. Toluidine blue staining of the cells showed the presence of metachromatic granules in the cells. [Figure - 4], and a confirmatory diagnosis of BM was made. Tzanck smear from the bulla did not show any acantholytic cells.
The patient was treated with hydroxyzine (2 mg/kg/day for 8 h) for pruritus and topical mupirocin and oral antibiotics for the prevention of secondary infection. We added oral betamethasone in a dose of 0.1 mg/kg/day for 4 weeks with the complete remission of symptoms in 3-4 days. The patient was followed up after 4 weeks and was found to be in a good shape, and we planned to taper steroids in the next 6 weeks. The parents were counseled regarding the prognosis and course of disease and the importance of the avoidance of certain medications or any triggering factors that may lead to mast cell degranulation.
| Discussion | | |
Bullous mastocytosis is a very rare and severe variant of mastocytosis; it usually occurs in the first year of life. [8] The prevalence of this condition is hard to determine because many cases are self-limited and/or not diagnosed. It displays certain preference for males. [9] Although occurrence seems to be sporadic, many cases of familial occurrence has been reported in several families. [10] Around 65% of cases occurs within first 15 yrs of life, out of which 30% of the cases manifest within 6 months of age; [8] moreover, in most of the cases, it follows an indolent course and the skin lesions resolve by adolescence. However, unfortunately, this subtype of mastocytosis, i.e., BM in childhood holds a more reserved prognosis with the potential risk of experiencing shock and sudden death. The typical childhood disease is linked to Glu-839-Lyc c-kit mutation, whereas the adult disease (as well as systemic disease) is often linked to Asp-816-Val c-kit mutation. [11]
Although many organs can be involved, the most common manifestation is cutaneous, the clinical expression of which are TMEP, mastocytoma, diffuse cutaneous mastocytosis and urticaria pigmentosa. Although bullous lesions can be observed in the early phase of all the subtypes of mastocytosis, it is a predominant and persistent feature of BM with frequent systemic involvement. [6] Any organ may be affected; however, the most commonly affected ones are bones (lytic lesions), spleen, liver and GI tract, manifesting through a wide range of clinical alterations. [8] The massive release of mast cell mediators produce features of flushing, hypotension, tachycardia, syncope and shock. Many agents stimulate the degranulation of mast cells, such as bacterial toxins, physical stimuli (e.g., heat, cold, sunlight and friction), poisons (e.g., snake and hymenoptera), biological peptides (e.g., wasp, bees, lobster and ascaris), polymers (e.g., dextrane) and drugs (e.g., aspirin, codeine, morphine, quinine, radiographic contrasts, thiamine, ephedrine and scopolamine). It should be noted that the patient as well treating physician should avoid the abovementioned agents. The involvement of BM in the GI system is very common and manifested by diarrhea, abdominal pain and vomiting as observed in our patient. [6]
Other features that are typically observed in BM, such as thickened skin with the enhancement of cutaneous folds and hyperpigmentation, were absent in our case.
At times, the clinical picture of BM is misdiagnosed as cases of staphylococcal scalded skin syndrome (SSS), [12],[13],[14] erythema multiforme [13] and epidermolysis bullosa due to its close resemblance with them; [14] however, the histological findings clearly distinguishes BM from others. Diagnostic confirmation is necessary for an effective therapy or to make a projection regarding prognosis or to plan life supporting measures and even genetic counseling.
The main goal of treatment for all the categories of mastocytosis is to control the signs and symptoms determined or provoked by the release of mast cell mediators; accordingly, the patient should be cautioned against the use of any drug/any event that might stimulate mast cell degranulation and the early treatment of any infectious conditions.
Combinations of H1 and H2 blocking agents have been the mainstay of treatment for most of the uncomplicated cases possessing pruritus? however, this had a minimal influence on the course of the disease. [15] We selected hydroxyzine for our patient as it is found to be superior in children in controlling the symptom scores in comparison to ketotifen, which has got a similar side-effect profile. Sodium chromoglycate, a mast-cell stabilizer is very effective in some patients in controlling both cutaneous and systemic symptoms. [16] Other drugs mentioned in various studies include mast cell stabilizers such as ketotifen, PUVA [17] and alpha interferon. [18] PUVA is reported to be quiet effective for BM in controlling pruritus and reducing visible lesions, serum histamine and urinary histamine metabolites. [17] However, lesions tend to recur after the discontinuation of the therapy. Systemic and topical corticosteroids show good results in many cases as reported by many authors. [8],[12],[19],[20] Our patient showed a good response to oral steroids as reported in other studies.
The patient was kept under observation and regular follow-up was conducted for any relapse. As mentioned earlier, the BM cases should be observed frequently and more carefully as they have a more reserved prognosis than other types since a potential risk of experiencing a shock or sudden death has been reported. [21]
| References | | |
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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4] |
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