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Year : 2018  |  Volume : 5  |  Issue : 2  |  Page : 130-132

Childhood Pseudoxanthomatousmastocytosis; Report of two cases

1 Department of Dermatology, IMS and SUM Hospital, Bhubaneswar, Odisha, India
2 Prolife Diagnostics, Bhubaneswar, Odisha, India

Date of Web Publication19-Dec-2018

Correspondence Address:
Dr. Tapaswini Tripathy
Department of Dermatology, IMS and SUM Hospital, Bhubaneswar, Odisha
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijdpdd.ijdpdd_40_18

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Cutaneous mastocytosis (CM) is a mast cell proliferative disorder that commonly affects pediatric population. It has various clinical forms such as urticaria pigmentosa, solitary mastocytoma, telangiectasia macularis eruptiva perstans, diffuse CM, and erythrodermic mastocytosis. Pseudoxanthomatous mastocytosis is a type of diffuse CM, which is relatively rare. It can mimic xanthoma disseminatum, juvenile xanthogranuloma, and benign cephalic histiocytosis which are also seen commonly in children but have different prognostic behavior. Hence, high degree of clinical suspicion along with histopathology is required for the diagnosis. Herein, we report two cases of childhood pseudoxanthomatous mastocytosis.

Keywords: Mastocytosis, xanthelasmoid, xanthoma

How to cite this article:
Singh BS, Tripathy T, Kar BR, Singh S. Childhood Pseudoxanthomatousmastocytosis; Report of two cases. Indian J Dermatopathol Diagn Dermatol 2018;5:130-2

How to cite this URL:
Singh BS, Tripathy T, Kar BR, Singh S. Childhood Pseudoxanthomatousmastocytosis; Report of two cases. Indian J Dermatopathol Diagn Dermatol [serial online] 2018 [cited 2022 Jan 24];5:130-2. Available from: https://www.ijdpdd.com/text.asp?2018/5/2/130/247873

  Introduction Top

Mastocytosis refers to group of disorders characterized by accumulation of mast cells in various organs such as skin, liver, spleen, bone marrow, and lymph node.[1] Skin is the most commonly affected organ in mastocytosis which can manifest in various forms such as urticaria pigmentosa, solitary mastocytoma, telangiectasia macularis eruptiva perstans, diffuse cutaneous mastocytosis (DCM), and erythrodermic mastocytosis.[2] Pseudoxanthomatous or xanthelasmoid mastocytosis is a rare variant of DCM characterized by the presence of yellowish papules and nodules resembling xanthomatosis. On literature search, we were unable to find more than three cases of xanthelasmoid mastocytosis reported from India.[3],[4],[5] Herein, we report two cases of pseudoxanthomatous mastocytosis.

  Case Reports Top

Case 1

A 4-year-old male child presented to dermatology outpatient department with pruritic papules and nodules all over the body for 1 month. The lesions started initially as few itchy nodules over the back. Gradually, similar lesions appeared over rest of the body over a period of 1 month. He had no history of flushing, dizziness, palpitation, pain abdomen, diarrhea, fever, weight loss, or bone pain. Family and personal history were noncontributory. Some of lesions subsided partially with postinflammatory hyperpigmentation after taking antihistamines. On dermatological examination, there were multiple skin colored to yellowish papules and nodules over the face, trunk, and extremities [Figure 1]. Subsiding lesions were present in the form of postinflammatory hyperpigmentation. Palm, sole, and mucosae were not involved. Darier's sign was negative. General and systemic examination did not reveal any abnormality. Routine laboratory tests such as complete blood count, peripheral smear comment, liver function test and renal function tests, lipid profile were within normal limits. Chest X-ray and abdominal ultrasonography were normal. A differential diagnosis of xanthoma, xanthoma disseminatum, juvenile xanthogranuloma, mastocytosis, and benign cephalic histiocytosis was considered. Punch biopsy from a representative lesion was done, and histopathological examination revealed collection of mast cells in the form of uniform round cells with ample eosinophilic granular cytoplasm filling the papillary dermis, which was consistent with mastocytosis [Figure 2]a. On immunohistochemistry, those cells showed membrane positivity for CD117 [Figure 2]b. On the basis of clinical picture and histopathological finding, a diagnosis of pseudoxanthomatous mastocytosis was made. He was prescribed with levocetirizine 2.5 mg daily orally along with proper counseling to the parents about avoidance of triggering factors. The lesions were well controlled with the treatment for around 3 months, and he is on regular follow-up.
Figure 1: Skin colored to yellowish papules and nodules over the trunk and extremities simulating xanthoma

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Figure 2: (a) Mast cells as uniform round cells with ample eosinophilic granular cytoplasm filling the papillary dermis (H and E, ×40). (b) Immunohistochemistry showing cells with membrane positivity for CD117 (×10)

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Case 2

One-year-old male child presented with multiple itchy papules and plaques over the trunk and upper extremities. On examination, there were well-demarcated skin colored to yellowish plaques over the trunk and forearm [Figure 3]. On rubbing the lesion, there was no erythema or urtication (Darier's sign negative). He had no other systemic symptoms. Family history was negative. General and systemic examination was within normal limits. Routine laboratory tests did not reveal any abnormality. Chest X-ray and abdominal ultrasonography were normal. Punch biopsy from the lesion was consistent with mastocytosis. The lesions improved and symptoms were controlled with daily 5 mg of hydroxyzine on regular follow-up for about 5 months till date.
Figure 3: Well-demarcated yellowish plaque over the trunk

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  Discussion Top

Mastocytosis is a heterogeneous group of disorders with varied spectrum of manifestations ranging from the involvement of only skin to that of various internal organs. It can occur both in children and adults. In contrast to adult-onset mastocytosis, the disease in the pediatric population is usually benign and resolve spontaneously.[6] In most children, mastocytosis is usually confined to the skin, whereas in adults, it is invariably associated with systemic involvement. About two-thirds of all CMs occur in children.[1] Cutaneous manifestations, which are the most common presentation of mastocytosis, usually occur early in life. There is an increased number of mast cell both in lesional and nonlesional skin.[2] DCM is a rare form of CM accounts for 1%–3% of CM.[6] As compared to other forms of CM, DCM is more likely to be associated with more severe form of systemic symptoms such as hypotension, shock, and diarrhea due to higher concentration of mast cells although the cutaneous lesion may not be proportionate.[7] Fortunately, none of our patients had systemic manifestations. Darier's sign was negative in both of our cases. Although Darier's sign is highly specific of mastocytosis, it may not be positive in all cases, and positivity ranges from 88% to 92%.[8]

Xanthelasmoid mastocytosis was first described by Tilbury Fox. In 1975, Griffiths and Daneshbod described pseudoxanthomatous mastocytosis in the form of yellowish nodular lesion resembling xanthoma or pseudoxanthoma elasticum.[9] Some authors believe that the different nomenclatures such as nodular, xanthelasmoid, and pseudoxanthomatous mastocytosis can be used as synonyms as they represent similar clinical conditions with slight variations.[10]

We are reporting these cases because of their rarity of occurrence in India.[3],[4],[5] In both of our case, cutaneous lesions were resembling xanthoma, but histopathology reports were consistent with mastocytosis, so a diagnosis of pseudoxanthomatous mastocytosis was made. It is important to distinguish this entity from other closely mimicking dermatosis such as xanthoma disseminatum, juvenile xanthogranuloma, benign cephalic histiocytosis, and confirm the same by histopathological examination as the latter diseases have different prognostic values. As the majority of childhood CM remit spontaneously, it is important to counsel the parents regarding the benign and chronic course of the disease.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Horny HP, Sotlar K, Valent P, Hartmann K. Mastocytosis: A disease of the hematopoietic stem cell. Dtsch Arztebl Int 2008;105:686-92.  Back to cited text no. 1
Soter NA. Mastocytosis and the skin. Hematol Oncol Clin North Am 2000;14:537-55, vi.  Back to cited text no. 2
Pande S, Patil R, Mahajan S, Kharkar V, Khopkar U. Generalised yellowish papular eruption in a child. Indian J Dermatol Venereol Leprol 2005;71:63-5.  Back to cited text no. 3
[PUBMED]  [Full text]  
Rajesh J, Dogra S, Verma S, Mohanty SK, Handa S. Diffuse cutaneous mastocytosis: Pseudoxanthomatous variant. J Dermatol 2002;29:354-6.  Back to cited text no. 4
Srivastava N, Chand S, Singh S. Pseudoxanthomatous mastocytosis. Int J Dermatol 2008;47:50-1.  Back to cited text no. 5
Srinivas SM, Dhar S, Parikh D. Mastocytosis in children. Indian J Paediatr Dermatol 2015;16:57-63.  Back to cited text no. 6
  [Full text]  
Wolff K, Komar M, Petzelbauer P. Clinical and histopathological aspects of cutaneous mastocytosis. Leuk Res 2001;25:519-28.  Back to cited text no. 7
Kiszewski AE, Durán-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. 8
Griffiths WA, Daneshbod K. Pseudoxanthomatous mastocytosis. Br J Dermatol 1975;93:91-5.  Back to cited text no. 9
Pérez-Pérez L, Allegue F, Caeiro JL, Fabeiro JM, Pérez Rodríguez A, Zulaica A, et al. Coexistence of two types of clinical lesions in childhood-onset mastocytosis. Indian J Dermatol Venereol Leprol 2011;77:184-7.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3]


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