|Year : 2016 | Volume
| Issue : 3 | Page : 209-211
Diffuse cutaneous mastocytosis in an infant
Sitangshu Chatterjee1, Satarupa Mukherjee2, Malay Kumar Sinha1
1 Department of Pediatrics, Medical College and Hospital, Kolkata, India
2 B. R. Singh Hospital and Centre for Medical Education and Research, Kolkata, India
|Date of Web Publication||5-Jul-2016|
517, Brahmapur, Kolkata - 700 096, West Bengal
Source of Support: None, Conflict of Interest: None
Mastocytosis is a group of a disorder characterized by infiltration of mast cell in various organs, e.g. skin, bone marrow, liver, spleen, gastrointestinal tract, lymph node, etc., The term bullous mastocytosis is generally used to describe the varieties of mastocytosis manifested with predominantly cutaneous vesico-bullous lesions and the more commonly represents the diffuse cutaneous form. We report a case of diffuse cutaneous mastocytosis (bullous mastocytosis) in a 6-month-old child.
Keywords: Diffuse cutaneous mastocytosis, infant, mastocytosis
|How to cite this article:|
Chatterjee S, Mukherjee S, Sinha MK. Diffuse cutaneous mastocytosis in an infant. Indian J Paediatr Dermatol 2016;17:209-11
|How to cite this URL:|
Chatterjee S, Mukherjee S, Sinha MK. Diffuse cutaneous mastocytosis in an infant. Indian J Paediatr Dermatol [serial online] 2016 [cited 2020 Aug 11];17:209-11. Available from: http://www.ijpd.in/text.asp?2016/17/3/209/179479
| Introduction|| |
Mastocytosis is a group of a disorder characterized by infiltration of mast cell in various organs, e.g., skin, bone marrow, liver, spleen, gastrointestinal tract, lymph node, etc. Mastocytosis is classified into three major clinical types: Cutaneous, systemic, and malignant forms. Cutaneous mastocytosis (CM) presents a very wide clinical spectrum ranging from an isolated cutaneous mastocytoma to the generalized involvement of the skin and thus they are classified into:
- Urticaria pigmentosa
- Paucicellular mastocytosis (also termed telangiectasia macularis eruptiva perstans)
- Diffuse CM
- Mastocytoma of skin.
Despite the variety of clinical presentation, the histological hallmark is the same for all the types of cutaneous lesions. The common picture is diffuse infiltration of mast cell in the dermis. Although blistering can occur in any form but is characteristic of the diffuse cutaneous variety also known as bullous mastocytosis and is one of the important entities that needs to be differentiated from the other bullous disorder of infancy. The CM 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. We are reporting the case owing to its rarity, diverse clinical spectrum, complications, and reserved outcome.
| Case Report|| |
A 3-month-old infant from a Howrah, West Bengal, born out of nonconsanguineous marriage presented to us with complaints of recurrent episodes of reddish-yellow vesico-bullous skin eruptions associated with pruritus mainly over head-neck and trunk since 1-month of age [Figure 1]. There was also the history of intermittent flushing episodes associated with vomiting since the onset. The baby delivered at an institution by trans pelvic route with an uneventful perinatal period and was exclusively Brest fed with immunization up to date. The child was developmentally normal and there was no history of any drug intake. On examination, it was a normal thriving baby without any systemic abnormalities. Cutaneous examination revealed multiple tense bullae at different stages of their evolution associated with the local erythema and excoriation chiefly distributed over the trunk and neck. There were areas of scalded skin and erosion of skin associated with hyper and hypo pigmentation. The Darier's sign was found to be positive.
The routine hematological investigation, serum biochemistry, and urine analysis were within the normal limits. A culture sensitivity from the skin lesions showed that no growth after 48 h of incubation. Skin biopsy was obtained from the trunk and sent for histopathology, which showed subepidermal bulla and an upper dermal inflammatory infiltrate comprising lymphocytes and plenty of mast cells [Figure 2]. Toluidine blue staining of the smear showed the presence of metachromatic granules in the cells, and a confirmatory diagnosis of bullous mastocytosis was made. Tzanck smear from the bulla did not show any acantholytic cells. A direct immunofluorescence was essentially negative.
|Figure 2: H and E staining of the lesions showing subepidermal bulla and an upper dermal inflammatory infiltrate comprising lymphocytes and plenty of mast cells|
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The child was treated with an oral anti-histaminics (both H1 and H2 blocker) and a short-course (6 weeks) of an oral steroid (prednisolone) along with topical antibiotics (mupirocin) to prevent the secondary infection. The skin lesions began to resolve the after 3 days and was almost completely cleared within 6 weeks. The parents were counseled regarding the course and the outcome of the disease and avoidance of certain triggering factors including some drugs that may lead to mast cell degranulation and thereby flaring of the skin lesions.
| Discussion|| |
Mast cells are pluripotent cells originating in the bone marrow and capable of producing a lot of inflammatory mediators. Mastocytosis is a spectrum that may affect only the skin or other organs. The most affected age group are <15 years with onset in infancy. The prognosis is good, but there is a risk of sudden mast cell degranulation due to any trigger and subsequent collapse. As the case report by da Costa et al. in 2005 where they describe a case of sudden, unexpected death in a 4-month-old child with bullous mastocytosis after he was prescribed some intravenous drugs due to diarrhea. The prevalence of mastocytosis, particularly its cutaneous form is hard to be determined due to its self-limiting nature. However, it is estimated approximately 5.4 cases per 1000 children attending the pediatric dermatology clinic. Bullous mastocytosis may accompany any form of mastocytosis but when it is the predominant feature it is known as bullous mastocytosis. Systemic involvement as bones (osteolytic lesions), hepatomegaly, splenomegaly, gastrointestinal involvement with diarrhea and cardiovascular involvement with flushing, tachycardia, and shock are often associated. Any trigger as physical injury (thermal burns, friction), poisons, biological peptides, drugs, polymers, and radiocontrast agents may trigger degranulation of mast cells.
The presence of a bullous skin lesion in an infant prompts the four main differentials: Epidermolysis bullosa, auto-immune bullous disease, Steven-Johnson's syndrome, staphylococcal scalded skin syndrome, and bullous mastocytosis. Pathogenesis of pediatric mastocytosis is different from that of an adult type. It has been found that in adults there is a genetic inactivating mutation of the growth factor receptor c-kit. This mutation is absent in the pediatric cases, which may explain the transient nature of the disease in them in comparison to adults. However, children with progressive mastocytosis may express the same mutation as adults. Although childhood mastocytosis has a good prognosis but sometimes it may be progressive and can be fatal. Murphy et al. in 1999 reported a case in a 6-week-old child which appeared benign to start with but soon become fatal within a few months with organomegaly and lympadenopathy ultimately leading to the death.
The treatment of childhood bullous mastocytosis is symptomatic with antihistamines and avoidance of drugs which may stimulate the mast cells to degranulate. A study also supports the long-term use of potent topical steroid in the treatment of urticaria pigmentosa. Mast cell inhibitors as sodium cromoglycate and ketotifen may also have a role. Photochemotherapy with psoralen or ultraviolet ray has also been reported, so also is interferon in systemic mastocytosis.,
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[Figure 1], [Figure 2]