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CASE REPORT
Year : 2022  |  Volume : 67  |  Issue : 4  |  Page : 415-417
Pseudoxanthomatous mastocytosis in a 2-month female infant


1 From the Department of Dermatology and Venereology, IMS BHU, Varanasi, Uttar Pradesh, India
2 Department of Pathology, IMS BHU, Varanasi, Uttar Pradesh, India

Date of Web Publication2-Nov-2022

Correspondence Address:
Atul Mohan
Department of Dermatology and Venereology, Room No. 144, Sushruth Hostel, Trauma Center, IMS, BHU, Varanasi - 221 005, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijd.ijd_624_21

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   Abstract 


Mastocytosis is a rare disease characterized by infiltration of mast cells in various tissues like skin, bone marrow, liver, spleen, and gastrointestinal tract. Here, we present a case report of diffuse cutaneous mastocytosis (pseudoxanthomatous type) in a neonate which is a rare presentation.


Keywords: CD117 immunohistochemistry, diffuse cutaneous mastocytosis, flushing, histopathology, mast cells, pseudoxanthomatous


How to cite this article:
Rai T, Mohan A, Dhameja N, Yadav V. Pseudoxanthomatous mastocytosis in a 2-month female infant. Indian J Dermatol 2022;67:415-7

How to cite this URL:
Rai T, Mohan A, Dhameja N, Yadav V. Pseudoxanthomatous mastocytosis in a 2-month female infant. Indian J Dermatol [serial online] 2022 [cited 2022 Dec 4];67:415-7. Available from: https://www.e-ijd.org/text.asp?2022/67/4/415/360342





   Introduction Top


Mastocytosis is a rare and clinically heterogeneous disease characterized by abnormal accumulation of mast cells in various tissues. It can be limited to the skin as in cutaneous mastocytosis, or it can involve the bone marrow, liver, spleen, and lymphatic tissues as in systemic mastocytosis. The age of development is bimodal with most pediatric patients exhibiting symptoms before the age of 2 years and adults developing the disorder after the age of 15 years.[1] The first description of a cutaneous mast cell disease is attributed to Nettleship and Tay in 1869.[2] 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 (most common), diffuse cutaneous mastocytosis, and mastocytoma of skin. The most frequent site of organ involvement in patients with any form of mastocytosis is the skin, in which a variety of clinical manifestations have been described.[2] The patient may have symptoms like pruritus, flushing, blistering, abdominal pain, diarrhea, gastrointestinal hemorrhages, bone pain, and rarely hypotensive episodes due to systemic involvement.

Case History

A 2month old female child presented in our Dermatology Outpatient Department (OPD) with multiple reddish raised lesions over the forehead since the age of 2 weeks. Similar lesions appeared on the scalp, back, abdomen, and bilateral upper and lower limbs over the next 2 weeks. The child was born at full term and the mother had a spontaneous vaginal delivery. The child was exclusively breastfed and immunized as per schedule. On further enquiring, a history of multiple dark color flat lesions over the face was also present at the time of birth along with multiple, red, raised linear lesions over back. The parents gave a history of redness appearing on the body when parents massaged the child. No episode of vomiting, diarrhea, or syncopal episode was seen in our patient. On examination, affected Body surface area (BSA) was approximately 80% with diffuse erythema along with multiple skin-colored to erythematous round to oval papules, nodules, and plaques over face, abdomen, back, bilateral upper and lower limbs of size varying from 0.5 × 0.5 cm to 1 × 2 cm in diameter [Figure 1]. Few of the skin lesions also had a yellowish hue. On palpation, the skin was thickened and suggested a doughy consistency. Darier's sign was elicited and found to be positive [Figure 2]. Investigations like Complete blood count (CBC), Liver function tests (LFT), Erythrocyte Sedimentation Rate (ESR), X-ray (chest, bilateral knee joint, and bilateral hip joint), ultrasonography of the whole abdomen, and stool for occult blood revealed no abnormality. Serum tryptase level was within normal limits.

A punch biopsy with a 3-mm punch was taken from the lesion (leg). Histopathology findings on H and E staining showed diffuse infiltrate of mast cells with an admixture of a small number of eosinophils with slight epidermal hyperplasia. Mast cells were seen as round, oval, or polygonal cells with abundant amphophilic granular cytoplasm with dark blue-stained nuclei without any nucleoli. The monomorphous infiltrates of mast cells extended to lobules of subcutis [Figure 3] and [Figure 4]. With Giemsa staining, mast cell granules stain metachromatically [Figure 5]. On immunohistochemistry (CD117), positive cells were seen [Figure 6].
Figure 1: Multiple eryhthematous rounds to oval papules, nodules, and plaques over face, abdomen, back, and bilateral upper and lower limbs

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Figure 2: Darier's sign positive

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Figure 3: Diffuse infiltrates of mast cells in the dermis and subcutaneous tissue [H & E, scanning view]

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Figure 4: Mast cells were seen as round, oval, or polygonal cells with abundant amphophilic granular cytoplasm with dark blue stained nuclei [H and E, ×40]

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Figure 5: Giemsa staining showed mast cell metachromatic granules [×40]

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Figure 6: Immunohistochemistry (CD117) positive mast cells [scanning view]

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The diagnosis of diffuse cutaneous mastocytosis was made based on history, clinical examination, and histopathological and immunohistochemistry findings. The parents were advised to avoid triggering factors like extremes of temperature, massage, trauma, and other medications. The child was prescribed syrup hydroxyzine 2 mg/kg/day in three divided doses along with topical mometasone furoate 0.1% cream application over raised lesions was advised. There was a significant improvement in lesions within 1 month leading to almost complete resolution of the lesion in 2 months [Figure 7].
Figure 7: Complete resolution of the lesion after 2 months of treatment

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   Discussion Top


Diffuse cutaneous mastocytosis (DCM) is a rare type of cutaneous mastocytosis. It occurs predominantly in infants. Diffuse cutaneous mastocytosis has two clinical variants: bullous and pseudoxanthomatous or xanthelesmoid type.[3] The skin is infiltrated by mast cells in a generalized pattern leaving a thickened, doughy appearance that accentuates skin folds. In the more severe form, blistering may be present. The combined result of both the infiltration of mast cells and their degranulation products produces edema and a typical leather-grain skin appearance.[4] Patients with DCM are at a higher risk than other forms of cutaneous mastocytosis, and they are more likely to suffer severe systemic complications including hypotension, anaphylaxis, severe diarrhea, and gastrointestinal manifestations because of the much higher concentration of mast cell mediators.[5]

In DCM, symptom severity will lessen over time and usually resolves spontaneously between the age of 15 months and 5 years. It usually has a good prognosis; in the follow-up of 18 patients with DCM in the literature, there were three fatal cases.[6] These patients should be carefully observed for any systemic manifestations and thoroughly investigated.

Our patient had extensive involvement of the skin but there were no bullous lesions (bullous lesions are the most common presentation of diffuse cutaneous mastocytosis). There were no systemic symptoms. There was an excellent response with antihistamines and topical corticosteroids. Our patient had few skin lesions at the time of birth as well which is rare.

Acknowledgments

Thanks to Dr. Prasanna Kumar Jha and Dr. Sri Rupa for their miscellaneous support.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Turnbull L, Calhoun DA, Agarwal V, Drehner D, Chua C. Congenital mastocytosis: Case report and review of the literature. Cureus 2020;12.  Back to cited text no. 1
    
2.
Nettleship J, Tay W. Rare forms of Urticaria. Br Med J 1869;2:323-4.  Back to cited text no. 2
    
3.
Husak R, Blume-Peytavi U, Pfrommer C, Geilen CC, Goerdt S, Orfanos CE. Nodular and bullous cutaneous mastocytosis of the xanthelasmoid type: Case report. Br J Dermatol 2001;144:355-8.  Back to cited text no. 3
    
4.
Briley LD, Phillips CM. Cutaneous mastocytosis: A review focusing on the pediatric population. Clin Pediatr 2008; 47:757-61.  Back to cited text no. 4
    
5.
Stein DH. Mastocytosis: A review. Pediatr Dermatol 1986;3:365-75.  Back to cited text no. 5
    
6.
Kiszewski AE, Duran-Mckinster C, Orozco-Covarrubias L, Gutiérrez-Castrellón P, Ruiz-Maldonado R. Cutaneous mastocytosis in children: A clinical analysis of 71 cases. J Eur Acad Dermatol Venereol 2004;18:285-90.  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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