Indian Pediatr 2009;46: 175-177
RK Mondal, M Nandi, S Datta and M Hira*
From the Department of Pediatric Medicine and *Department
of Orthopedics, IPGMER and SSKM Hospital, Kolkata, India.
Corrspondence to: Dr Madhumita Nandi, 6/6,
Naren Sarkar Road, Barisha, Kolkata, West Bengal 700 008, India.
Manuscript received: February 11, 2008;
Initial review completed: March 7, 2008;
Revision accepted: March 24, 2008.
Farber disease or disseminated lipogranulomatosis is
a rare inherited disorder of lipid metabolism resulting from a defect in
ceramide degradation. Because of the feature of nodular swellings around
various joints, this may sometimes be confused with juvenile idiopathic
arthritis. We report a 4-year-old boy with Farber disease who presented
with nodular swellings around the joint, angle of the mouth and
conjunctiva, and was subsequently diagnosed to be a case of Farber
Keywords: Farber disease, Lipogranulomatosis.
arber disease is a rare inherited
autosomal recessive disorder of lipid metabolism in childhood population
due to a genetically determined defect in ceramide degradation.
The main importance of reporting this rare disease is
that it may be confused sometimes with polyarticular juvenile idiopathic
A 4-year old boy was referred to us as a case of
polyarticular JIA with joint pain, deformity and nodular swelling around
multiple joints, and nodules at the angle of the mouth and conjunctiva
since childhood (Fig. 1,2). The child also had difficulty in
walking. He had also developed hoarseness of voice for last two years.
There was no history of skin rash, convulsion, bleeding diathesis etc. His
develop-mental milestones were within normal limits. His two other
siblings were normal.
Fig.1 Clinical photograph of the patient
of Farber’s disease showing nodular swelling at the angle of the
mouth and in left conjunctiva.
Fig. 2 Clinical photograph showing
deformity and nodular swelling around the wrists and elbow joints.
Examination revealed weight of 8.5 kg (expected 16 kg),
height 80 cm (expected 100 cm) and head circumference 46.5 cm (expected 48
cm). His vital parameters and general physical examination were within
normal limits. Musculoskeletal system revealed multiple soft to hard
nodular irregular tender swelling around multiple joints with deformity
and limitation of movement. Direct laryngoscopy revealed multiple
laryngeal granulomas in both epiglottic and supraglottic area. These were
the cause of hoarseness of voice.
Investigations revealed hemoglobin of 11.5g/dL and TLC
7000/cmm (P72, L22 and E4). Platelet count was normal. Blood biochemistry
showed albumin 2.8g/dL, alkaline phosphatase 260 IU/L and SGPT 40 IU/L.
His blood glucose, blood pH, renal function and electrolytes were within
normal limit. Routine urine examination, Mantoux test, and chest X-ray did
not reveal any abnormality. X–ray of shoulder joint revealed
calcification of axillary lymphnode on left side (Fig. 3).
X–ray of wrists, knee and ankle showed generalized osteopenia with
juxtra-articular osteopenia. Rheumatoid factor and anti-nuclear factor
assay were normal. Biopsy of the nodular swelling revealed highly cellular
tissue with scattered large foamy cells having round to oval nuclei and
granular eosinophilic cytoplasm suggestive of storage cells. Ceramidase
level estimation and genetic studies could not be done. On the basis of
clinical presentation and investigation findings, a diagnosis of
disseminated lipogranulomatosis or Farber disease was made.
Fig. 3 X-ray Shoulder joint showing
lymph node calcification in the axilla.
Features of Farber disease include hoarseness of voice,
joint swelling, sub-cutaneous nodules etc. Lipid analysis and pathological
investigation confirm the diagnosis by showing the presence of ceramidase
deficiency characteristic for Farber disease(1). This disease is usually
lethal within first two decades of life(2). Familial lipogranulomatosis
(Farber disease) has been rarely reported in world literature(3-5) and
probably only two such cases were reported from India before(6,7).
Patients with Farber disease are sometimes misdiagnosed
as cases of juvenile idiopathic arthritis (JIA), as happened in the index
case. Very early onset, extensive nodule formation around joints, nodular
deposits of lipogranuloma in other sites like conjunctiva, and hoarseness
of voice due to laryngeal granuloma etc help to differentiate it
from JIA. Prenatal diagnosis can be done by detection of ceramidase level
in chorionic villus sampling(8).
Contributors: RKM, MN, SD and MH were involved in
diagnosis and management of the case. MN drafted the paper and searched
the literature. RKM, SD and MH contributed to paper writing. All authors
approved the final manuscript.
Competing interests: None stated.
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