Can J Plast Surg Vol 16 No 3 Autumn 2008175
Juvenile xanthogranuloma: Case report and review of
Tatiana Karine Simon Cypel MD, Ronald Melvin Zuker MD FRCSC FACS FAAP
The Hospital for Sick Children, Toronto, Ontario
Correspondence and reprints: Dr Ronald Melvin Zuker, Division of Plastic Surgery, The Hospital for Sick Children, 555 University Avenue,
Toronto, Ontario M5G 1X8. Telephone 416-813-6447, fax 416-813-6147, e-mail firstname.lastname@example.org
TKS Cypel, RM Zuker. Juvenile xanthogranuloma: Case
report and review of the literature. Can J Plast Surg
The present case report describes a juvenile xanthogranuloma in a
five-month-old girl. A circumscribed papule was located below the
right nasal ala and above the right vermilion border. The lesion was
histologically diagnosed as a juvenile xanthogranuloma after surgical
resection of the mass. Juvenile xanthogranuloma is an uncommon
diagnosis, with the head, neck and trunk being the most common
Key Words: Juvenile xanthogranuloma; Superior lip
Xanthogranulome juvénile : exposé de cas et
examen de la documentation
Suit un exposé de cas sur un xanthogranulome juvénile observé chez une
petite fille de cinq mois. Une papule circonscrite est apparue sous l’aile
nasale droite, au-dessus du bord libre de la lèvre, du côté droit. Un diag-
nostic histologique de xanthogranulome juvénile a été posé après la résec-
tion chirurgicale de la masse. Il s’agit d’une affection rare, qui touche le
plus souvent la tête, le cou et le tronc.
uvenile xanthogranuloma (JXG) is a member of the non-
Langerhans cell group of histiocytic proliferative disorders
(1), and is a relatively uncommon benign cutaneous fibrohisti-
ocytic lesion. JXG was first reported by Adamson (2). In gen-
eral, this is a regressing or stabilizing disorder usually occurring
in infancy. It is characterized by one or more cutaneous nod-
ules and less often by additional lesions in the deeper soft tis-
sue or organs themselves.
Although the head, neck and trunk are the most common
sites for JXG, it can appear anywhere on the body, including
the groin, scrotum, penis, clitoris, eyelid, toenail, palms, soles
and lips (3). Extracutaneous involvement is usually restricted
to the eye, specifically the iris, but may also occur in bone,
(Erdheim-Chester disease), lung and liver.
It is present at birth in 5% to 17% of the cases but it mainly
arises within the first year of life (4). We present a case report
of a baby girl with JXG localized in the upper lip.
A five-month-old female fraternal twin, born at 38 weeks’ ges-
tational age, presented with a nodular lesion on her face, above
the lip. The lesion had rapidly enlarged since it was first noted
at three months of age. She had no abnormality at birth or his-
tory of any trauma. Occasional bleeding from the surface of the
lesion was reported by the parents.
On physical examination, the lesion presented as a circum-
scribed papule, 6 mm in diameter and located just below the
right nasal ala and above the right vermilion border of the
upper lip (Figure 1). It was shiny, with some evidence of
telangectasia and scaling located centrally. On palpation, it
was a firm mass but did not extend to the oral mucosa. The
alveolus and palate were completely normal.
The ultrasound report revealed that the lesion was most
likely a hemangioma, and suggested a biopsy be performed to
confirm the diagnosis. The patient underwent a shaved biopsy
under general anesthesia. Histological evaluation of the lesion
revealed a dense infiltrate of benign polygonal to spindle-
shaped fibroblastic cells, mixed with numerous foamy histio-
cytes within the papillary dermis, including multiple Touton
cells with foamy, vacuolated cytoplasm. There were also scat-
tered lymphocytes. The immunohistochemistry analysis
demonstrated that the histiocytic cells were positive for CD68,
but negative for CD1a, S-100 and Langerin. These combined
results confirm that the histiocytes are non-Langerhans cells.
In light of the clinical and histological findings, a diagnosis of
JXG was made. The shaved biopsy site epithelialized unevent-
fully (Figure 2) and resulted in an acceptable minimal scar
©2008 Pulsus Group Inc. All rights reserved
Figure 1) Preoperative appearance of the lesion
Histiocytic disorders are currently identified by their compo-
nent cells. In the right clinical context, lesional cells that are
CD1a+/Langerin+/S100+ can be identified as Langerhans cell
histiocytosis (LCH) without looking for ultrastructural
Birbeck granules. A standard nonautomated avidin-biotin per-
oxidase complex method without antigen retrieval was used in
the immunohistochemical analysis to explore the immunore-
activity to those antibodies. The non-LCH are a diverse group
of disorders defined by the accumulation of histiocytes that do
not meet phenotypic criteria for the diagnosis of Langerhans
cells. Although some may have a hemophagocytic component,
the definition excludes primary and secondary forms of hemo-
phagocytic lymphohistiocytosis (5).
JXG is a benign cutaneous fibrohistiocytic lesion and a type
of granulomatous process, at times accompanied by lipid
deposits. Adamson (2), who first described this lesion in 1905,
defined single or multiple cutaneous nodules in infancy as con-
genital xanthoma multiplex. The lesions were designated
nevoxanthoendothelioma by Mc Donagh in 1912 (6), who
considered this disorder to be derived from endothelial cells.
However, widespread recognition of an entity resembling JXG
occurred in 1954 (7).
A solitary cutaneous lesion is the most common presenta-
tion but it may occur as a soft tissue lesion with or without
organ involvement (1). JXG has been documented in many
visceral locations such as lung, bone, testis, gastrointestinal
tract, heart, eye and oral cavity (8-10). It can manifest as a
multisystem disease (1,11). The intramuscular lesions tend to
be larger than cutaneous ones.
JXG is a disease of the young child. Median age of onset is
two years, but lesions may be present at birth. Lesions vary in
size, but children younger than six months of age tend to pres-
ent with multiple lesions with predominance in the head and
neck. The male preponderance is much higher (12:1) in young
infants with multiple skin lesions (1).
JXG is associated with other diseases including neurofibro-
matosis type 1 and juvenile chronic myelogenous leukemia
(3). Ocular JXG occurs in the very young child, with 92% of
patients being younger than two years of age, and may occur
without concomitant skin involvement (15). Eye involvement
is usually but not always unilateral, and commonly presents
with an asymptomatic iris tumour, a red eye with signs of
uveitis, unilateral glaucoma, spontaneous hyphema or hete-
rochromia iridis (3). Other areas of the eye may be less com-
monly involved. Early diagnosis and treatment determine the
final visual outcome. The diagnosis should not depend on find-
ing typical lesions, and JXG should be part of the differential
diagnosis of young children presenting with unilateral hyphema,
glaucoma or exophtalmos.
JXG can be differentiated from xanthoma by the distribu-
tion of the lesion and the absence of lipid abnormalities. Three
other differential diagnoses include molluscum contagiosum
(pearly, dome-shaped papule with central umbilication),
hemangioma and neurofibroma (firm lesion, associated café-
au-lait spots) (17).
Histopathology is used to diagnose the presence of a non-
LCH, but differentiation between the different subtypes is
based mostly on immunohistochemistry and the clinical set-
The basic histopathology of the non-LCH shows well cir-
cumscribed nodules with dense infiltrates of histiocytes. Those
that involve the skin usually infiltrate the dermis. Giant mult-
inucleate cells are variable in number and there is also a vari-
able degree of predominantly perivascular and perilesional
inflammatory cells. Touton giant cells (seen in 85% of cases of
JXG, in a recent series) (1), are characterized by a wreath of
nuclei around a homogeneous eosinophilic cytoplasmic centre,
while the periphery shows prominent xanthomatization.
Electron microscopy has revealed a variety of nonspecific
organelles including dense bodies, worm-like bodies and pop-
corn bodies, among others (16). The cells of histiocytes and
giant cells are monocyte-machophage in origin. They label
Cypel and Zuker
Can J Plast Surg Vol 16 No 3 Autumn 2008176
Figure 2) One week following surgical resection
Figure 3) One month after surgery
strongly with macrophage markers such as CD 68 and HAM.
On the other hand, S-100 protein immunoreactivity, which is
a marker for the diagnosis of LCH, is typically absent (18,19).
JXG is most often a self-limiting disease that often sponta-
neously regress (1,4,8-11). Lesions may resolve completely or
may leave a residual atrophic or hyperpigmented scar. The
pathogenesis is unknown, and the initiating stimuli may be
one of many infections or physical factors (13,14).
Conservative management of these tumours has been advocated
(12). Despite the likelihood of spontaneous regression, it is
often decided to excise the lesion(s) for esthetic or diagnostic
reasons, as was the case for our patient. Excision of the lesion
is an adequate treatment and recurrence is uncommon,
although it has been documented (18,20).
It is our recommendation that enlarging soft tissue masses
in children in whom a malignancy cannot be excluded by
physical or radiological examination be biopsied, including
total excision when no functional compromise from surgery is
Can J Plast Surg Vol 16 No 3 Autumn 2008177
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