Indian Journal of Paediatric Dermatology

: 2020  |  Volume : 21  |  Issue : 3  |  Page : 209--211

Rare association of juvenile xanthogranuloma and acute lymphoblastic leukemia

Palvi Singla, Rima Joshi, Bela J Shah 
 Department of Dermatology, B J Medical College, Civil Hospital, Ahmedabad, Gujarat, India

Correspondence Address:
Dr. Palvi Singla
Room No. 408a, New PG Hostel, Phase 2, Civil Hospital, Asarwa, Ahmedabad - 380 016, Gujarat


Juvenile xanthogranuloma (JXG) is a rare non-Langerhans cell histiocytosis that usually occurs during infancy and early childhood. It is seen in combination with juvenile chronic myelomonocytic leukemia and/or neurofibromatosis type 1. The association with acute lymphoblastic leukemia (ALL) is rarely seen. We present a 2-year-old boy who had this rare combination and presented with multiple tan-orange-colored macules, papules, and nodules over the upper body and distal aspect of lower limbs for 4 months of age. The histologic evaluation and immunohistochemistry analysis resulted in the diagnosis of JXG. Bone marrow biopsy showed lymphoblastosis with marked suppression of erythroid and myeloid cells, suggesting ALL.

How to cite this article:
Singla P, Joshi R, Shah BJ. Rare association of juvenile xanthogranuloma and acute lymphoblastic leukemia.Indian J Paediatr Dermatol 2020;21:209-211

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Singla P, Joshi R, Shah BJ. Rare association of juvenile xanthogranuloma and acute lymphoblastic leukemia. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Sep 23 ];21:209-211
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Full Text


Juvenile xanthogranuloma (JXG) is a type of non-Langerhan's cell histiocytosis. It presents as skin lesions predominantly in infants and young children, more often males,[1] and are present at birth in 20% of patients.[2]

At first, the lesions are smooth pink papules but later develop a yellowish scaly appearance. Most are under 0.5 cm in diameter (papules), but giant nodules may be as large as 2 cm. They may arise on any site of the body, but more frequently on the trunk and upper extremities and occasionally also in the eye and internal organs.[3]

We report a case of JXG with acute lymphoblastic leukemia (ALL) in a 2-year-old child.

 Case Report

A 2-year-old male child born out of nonconsanguineous parentage was diagnosed with ALL, whose skin was remarkable for multiple rounds to oval, reddish-brown, slightly elevated, asymptomatic lesions for 4 months of age over his face [Figure 1], upper limbs, trunk, and lower limbs [Figure 2]. The lesions were initially few in number and gradually increased over 1 year.{Figure 1}{Figure 2}

There was no history of similar lesions in the family or any other chromosomal disorder.

He presented with complaints of fever, diarrhea, and recurrent upper respiratory tract infections for the past 3 weeks, along with spontaneous epistaxis.

On clinical examination, he was pale, had multiple petechiae and several, well-defined, skin-colored to reddish-brown macules, papules, and nodules of about 0.5 cm × 0.5 cm distributed over the face, ears, upper limbs, trunk, and distal aspect of lower limbs. No café au lait macules or neurofibromas were observed. The ocular examination was normal.

In addition, he had lymphadenopathy along with hepatosplenomegaly.

Routine laboratory investigations such as complete blood count showed pancytopenia (Hb-5 and platelet count-11,000), peripheral smear showed lymphoblastosis, and lipid profile showed increased triglyceride (TG) (252 mg/dl), very low-density lipoprotein (50 mg/dl) and TG/high-density lipoprotein ratio (5.50). Fine needle aspiration was performed from one of the truncal nodules which showed foamy histiocytes with eosinophilic and leucocytic infilteration [Figure 3].{Figure 3}

Histopathological examination confirmed the diagnosis of JXG, as the epidermis showed parakeratosis, and the upper dermis showed a nodular structure composed of foamy histiocytes with peripherally placed monomorphic nuclei [Figure 4]. Occasional Touton type giant cells with multiple small cytoplasmic vacuolations were seen [Figure 5].{Figure 4}{Figure 5}

On immunohistochemistry, histiocytic cells were positive for CD68 cells and negative for S100 confirming the diagnosis of JXG.

Bone marrow biopsy showed lymphoblastosis with marked suppression of erythroid and myeloid cells suggesting acute lymphocytic leukemia [Figure 6]. On immunological typing, CD 68 + and S100 - were there.{Figure 6}

Informed consent was taken from parents before taking clinical photographs.

He underwent chemotherapy treatment from the radiotherapy department and is on regular follow-up.


JXG, a self-limiting disorder, is a common form of non-Langerhans cell histiocytosis primarily affecting infants and small children. It is rarely associated with systemic manifestations.

JXG is suggested to result from a disordered dermal dendritic response to a nonspecific tissue injury which results in a granulomatous reaction.

JXG mostly presents in infancy, while in about 10%, it presents at birth. In our case too, the age of presentation was 4 months.

Cutaneous lesions of JXG lesions are tan-orange colored, firm, and papulonodules which tend to occur frequently on the head and neck which, in this patient, were all over the body.

Extracutaneous involvement of JXG has been reported in every organ system. Although ocular involvement is rarely seen, i.e.,<1% with cutaneous JXG, but visual sequelae, i.e. glaucoma, and hyphema can lead to blindness. Hence, a complete ophthalmologic examination should be done in every patient, which was normal in our patient.

JXG can be confirmed histologically, which shows dense polyhedral histiocytes with vacuolated cytoplasm in large amounts and Touton giant cells in 85% of cases.[4] On immunohistochemistry, histiocytes are positive for factor XIIIa, CD68, CD163, fascin, and CD14 but negative for S100 and CD1 differentiating these lesions from Langerhans cell histiocytoses.

The relationship of JXG with neurofibromatosis type 1 (NF1) and juvenile myelomonocytic leukemia (JMML) has been reported, which is then termed “triple association.”

Bader and Miller[5] described 29 patients with leukemia and NF1, among them, one child also had JXG. Song et al.[6] reported a child with JXG and NF-1 WITH ALL. Rotte et al.,[7] in 1994, reported a case of a child having a combination of JXG and ALL.

Hence, patients with JXG and NF1 should be screened for the development of JMML which presents with lymphadenopathy, anemia, thrombocytopenia, leukocytosis, and hepatosplenomegaly, but very few cases are reported to have an association with ALL.

Discussion with a pediatric dermatologist or radiation oncologist may be helpful in documenting the extent of the disease and plan treatment.


JXG is known to be associated with AML and neurofibromatosis, however, there are few case reports highlighting the association between JXG and ALL.[8]

Declaration of patient consent

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

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Conflicts of interest

There are no conflicts of interest.


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