Indian Journal of Dermatology
: 2015  |  Volume : 60  |  Issue : 3  |  Page : 301--304

Uncommon presentation of a common histiocytic tumor: A rare entity

Chinmay Kar, Kapildev Das, Jayanta K Barua 
 Department of Dermatology, Malda Medical College and Hospital, Malda, West Bengal, India

Correspondence Address:
Chinmay Kar
Sadatpur, Manasinghapur, Howrah 711 404, West Bengal


Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytic lesion, characterized by benign, usually asymptomatic, self-healing yellowish brown papulonodular lesions of skin and other organs in the absence of metabolic disorder. The cells of origin of JXG are dermal dendrocytic cells. Histopathologically there is dermal infiltration of foamy or non-foamy histiocytes with or without giant cell. Immunohistochemistry shows CD68 positivity with CD1a and S-100 negativity of lesional cells although S-100-positive JXG have been reported. JXG may be associated with neurofibromatosis type one (NF 1) with increased risk of juvenile chronic myelogenous leukemia and other hematological malignancies. Our case was S-100 immunoreactive multiple, cutaneous JXGs with NF 1 without any visceral involvement or malignant complication. We are presenting this case due to its rarity.

How to cite this article:
Kar C, Das K, Barua JK. Uncommon presentation of a common histiocytic tumor: A rare entity.Indian J Dermatol 2015;60:301-304

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Kar C, Das K, Barua JK. Uncommon presentation of a common histiocytic tumor: A rare entity. Indian J Dermatol [serial online] 2015 [cited 2021 Dec 3 ];60:301-304
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Juvenile xanthogranuloma (JXG) is a benign, self-healing disorder that is characterized by asymptomatic yellowish papulonodular lesions of the skin and other organs in the absence of metabolic disorder. It accounts for 80% to 90% of all non-Langerhans cell histiocytosis and has no sexual and racial predilection. [1] Cutaneous lesion is usually solitary (67%) whereas multiple skin lesions are seen only in seven percent and multiple cutaneous JXG with visceral involvement occurs only in four percent of all JXG cases. [2] JXG can be diagnosed by clinico-histological features and confirmed by immunohistochemistry which detects CD68 immunoreactivity with negative staining of CD1a and S-100 protein although few cases of S-100-positive JXG have been reported. [3],[4] Our case was S-100 immunoreactive multiple, cutaneous JXGs with neurofibromatosis type one (NF 1) without any visceral involvement or malignant complication. We are presenting this case due to its rarity.

 Case Report

A two and half-year-old female child, born of non-consanguineous parents, was presented in our department with history of asymptomatic, few small reddish to brownish yellow elevated skin lesions over face, trunk and left upper extremity for last one and half year. The lesions were increasing in number with time and some were resolved with scar formation. Oral mucosa was normal. There was no history of convulsion, unconsciousness or eye symptom. Antenatal history of mother was uneventful. Mother was also suffering from NF1.

On examination, there were multiple firm dome shaped papules with sizes between 3 and 4 mm [Figure 1] and [Figure 2]. There were also eight cafι-au-lait macules (CALMs) of varying size ranging from 1 to 8 cm over trunk [Figure 2]. Apart from CALMs, very few freckles were found over trunk and left axilla [Figure 3]. Systemic examinations were within normal limit. Developmental milestones including intelligence were according to her age. Complete blood count and lipid profile were absolutely normal. Routine urine test, X-ray chest, abdominal ultrasonography and CT scan of brain were within normal limit. Ophthalmological examination revealed few Lisch nodules over right iris with normal binocular vision. Histopathological (HP) examination of papule showed mild epidermal orthokeratosis and irregular acanthosis with diffuse infiltration of histiocytes without any distinct vacuolated cytoplasm, few fibroblasts and lymphocytes in the papillary and mid reticular dermis [Figure 4], [Figure 5],[Figure 6]. There was no giant cell. Immunohistochemistry (IHC) of the lesional tissue showed strong reactivity (four +) of CD 68 and S-100 protein with negative CD1a staining [Figure 7], [Figure 8], [Figure 9]. By compiling clinical, HP and IHC examination of papule, it was obvious that the papules were S-100 protein immunoreactive JXG. The CALMs, Lisch nodules, freckles and maternal NF 1 were also favored in NF 1 of the child. So, our case most probably the first case where S-100 protein-positive multiple, cutaneous JXGs with NF-1 without any visceral involvement and hematological complication is simultaneously coinciding.{Figure 1}{Figure 2}{Figure 3}{Figure 4}{Figure 5}{Figure 6}{Figure 7}{Figure 8}{Figure 9}


JXG is the most common form of non-Langerhans cell histiocytosis and it has two clinical forms, popular and nodular. Papular lesions are xanthomatized rapidly but it depends absolutely on the time of biopsy. According to some authors, popular xanthomas are a separate entity where systemic involvement and CALMs are absent and histopathologically primitive purely histiocytic phase is lacking. [5] There are three stages in the evolution of JXG histologically. In early JXG, histiocytes have small, limited cytoplasm with absent or fine lipid vacuoles. Nuclei at this stage are small, round or oval or indented with inconspicuous nucleoli. There is no touton giant cell but scattered eosinophils may be found. In classical JXG, histiocytes have abundant cytoplasm with distinct vacuoles. There are foreign body and touton giant cells with few eosinophils. In case of late JXG, histiocytes arrange in a storiform pattern of spindle cells resembling benign fibrous histiocytoma admixed with foamy and giant cells. Here also touton giant cells are absent or rare. [6] Our case was totally fitted with early JXG where histiocytes without vacuolated cytoplasm were present in the dermis without any giant cell. Usually IHC study shows JXGs are CD68 positive, CD1a negative and mostly S-100 protein negative. But very rarely JXG cells of recent origin may be S-100 protein positive but on passage of time the cells will be negative for S-100 protein and it takes about 2 years after the initial diagnosis. [3] Our case was an early JXG which had S-100 protein immunoreactivity along with CD68 in IHC. The unusual positivity of S-100 protein might disappear following few years but it needs proper follow-up. One case report from abroad revealed disseminated JXG with S-100 protein positivity without any visceral involvement like our report. [4]

When six or more CALMs of over 5 mm in greater diameter in prepubertal individuals along with two or more Lisch nodules and NF 1 of first degree relative are present, the diagnosis of NF 1 confirms for our patient, according to the National Institute of Health Consensus Development Conference Statement in 1988. [7] JXG may be associated with NF 1 where risk of juvenile chronic myelogenous leukaemia will be increased to 20-30 folds than only NF -1 patients. [8] Our patient had no hematological abnormality but advised for further follow-up.

The female child patient had S-100-positive multiple cutaneous JXG with NF 1 without visceral involvement and hematological complication till now. It was the first reported case from India and also world as per our search from internet.


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