HISTIOCYTOSIS:
A rare case of Familial occurrence.
Dr. PRITI DHAKATE, Dr. SUYASH
KULKARNI,Dr. (Mrs.) P. S. PENDHARKAR, Prof. & Head,Dr. (Mrs.)
B. D. SONAWANE, Asso. Prof.
Dr. S. Z. SORTE, Asso. Prof.,Dr. R. R. KHANDELWAL, Hon. Asso.
Prof.,Dr. SURESH PHATAK, Hon. Asso. Prof.
Dr. DHANASHREE DANDE, Asst. Lect. DEPT. OF RADIOLOGY, INDIRA
GANDHI MEDICAL COLLEGE, NAGPUR.
C/F: ½ year old female
presented with C/o distension of abdomen, intermittent fever,
failure to grow, headache.
FAMILY HISTORY : H/O similar
complaints in her elder sister was revealed. Both sisters were
examined clinically.
Both were short statured, anaemic. No
lymphadenopathy.
Radiograph skull was taken as a routine
radiological examination for headache.
Skull Radiograph lateral view of both
sisters revealed :
Lytic lesions of varying sizes in parietal
region.
Lytic lesions revealed - No sclerosis
Involvement of both tables
Punched out lesions were well defined.
Radiograph spine showed vertebra plana in
one sister.
Biochemistry confirmed the diagnosis of
Histiocytosis.
IMPORTANCE : Familial Histiocytosis
is rare. Eosinophilic granuloma, Hand-Schuller- Christian
Disease, and Letterer Siwe Disease are Inflammatory Histiocytosis
and are different phases of the same entity.
CLASSIFICATION:
Class I : EOSINOPHILIC GRANULOMA :
Most mild expression.
Bony, occasionally pulmonary involvement.
Boys, between 3 and 12 years most commonly
affected. Any bone affected. A quarter of cases in the skull. The
skull, pelvis and femora between them account for two thirds of
all cases.
Clinically pain, swelling and fever.
RADIOLOGICAL CHANGES :
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Translucent areas of bone destruction, with
sharply defined margins of considerable size. The round or oval
defects may have scalloped margins. Active Phase – No
sclerotic margin, healing phase – peripheral sclerosis true
or apparent expansion present. In two thirds, lesions are
solitary. Differential diagnosis – osteomyelitis or Ewings
Tumour. Multiple Eosinophilic Granulomas are usually found to be
in different phases of evolution. As one lesion resolves another
may appear in a different part of the skeleton. Button sequestra
may be observed. Skeletal scintigraphy is most sensitive means.
Solitary lesions in the spine may collapse, partially or
completely, the later presenting the classic appearance of
vertebra plana. Most common in thoracic spine. Paravertebral soft
tissue shadow may be evident.
The disc spaces on either side remain
intact and may even be widened. Differential diagnosis of
collapse of a single vertebral body - Ewings Tumour, Metastasis
from a Neuroblastoma, or most especially, a bizzare and atypical
Tuberculous Focus. The benign form of Histiocytosis occasionally
affects long bones and initially has a predilection for the
diaphysis. D/D's – Pyogenic infection, Chronic Granulomatous
Disease.
HAND-SCHULLER-CHRISTIAN DISEASE :
A more chronic form of the disease, with
dissemination of lesions in the lungs, lymph nodes, liver spleen
and skeleton. Children below 5 years are most frequently
affected, though sporadic cases occur at later ages up to middle
life. Abnormalities in the temporal bone are common, with an
associated otitis media.
RADIOLOGICAL CHANGES : Bone defects
same as those of Eosinophilic Granulomas. However more numerous
and particularly affect the flat bones. In the skull they
frequently coalesce to produce widespread irregular defects
usually likened to a map and described as the 'Geographical
skull', both tables often suffering extensive osteolysis. Lesions
in the maxilla and mandible begin round the tooth roots, so that
the teeth, which are never affected, remain dense and appear to
'float in air'. Several vertebrae may be collapsed and extensive
lesions may develop in the scapulae, ribs, and pelvis. Osteolytic
pelvic lesions or vertebral collapse in a child are suggestive of
this disease.
LONG BONE INVOLVEMENT : less common.
Sclerotic reaction – absent. When healing does occur the
lesions fill in by sclerosis in the same way as Eosinophilic
Granulomas. New lesions may appear after the original one have
begun to heal, emphasizing again the wide spectrum of
radiological change in Histiocytosis. The lungs show a fine
nodular infiltration in the acute phase. With healing, these
fibrose and persist as linear strands of increased density, but
the presence of pulmonary changes in Histiocytosis indicates a
worst prognosis.
LETTERER-SIWE DISEASE : Acute or
subacute disseminated form, occurring vary rarely in infants
below the age of 2 years and with more severe clinical picture.
Characterised by pyrexia, rash, mouth sores, bleeding gums,
respiratory symptoms and failure to thrive. Involvement of the
extraskeletal tissues occurs with enlargement of the liver,
spleen and lymph nodes. Usually ends fatally.
RADIOLOGICAL CHANGES : Bone lesions
– indistinguishable from those of Hand-Schuller-Christian
Disease, but more widely spread, both in the flat bones, and
metadiaphysical areas of the long bones. No trace of the
sclerotic reaction round their sharply defined, punched out
margins. Diffuse pulmonary infiltration is common. This may
closely resemble Miliary Tuberculosis.
HISTOPATHOLOGICAL FINDINGS :
Langerhans cells Birbeck Granules. CD1 +ve Lymphocytes and
Eosinophils
Anaemia and thromobocytopaenia.
CLASS II :
HISTIOCYSTOSIS :
Familial Erythrophagocytic
Lypmphohistiocytosis (FEL)
Infection associated hemophagocytic
syndrome (IAHS)
CLINICAL MANIFESTATION :
Similar presentation or generalised disease
process, with fever weight loss, irritibality, severe
imunodeficiency.
In FEL age – younger than 4 years old.
HIS – Older age. Physical examination –
hepatosplenomegaly, aseptic meningitis,
HISTOPATHOLOGICAL FINDINGS :
Morphologically normal reactive macrophages
with prominent erythrophagocytosis and lymphocytes,
hyperlipidemic, hypofibrinogenimea, elevated hepatic enzymes,
raised level of interleukin II released by activated lymphocytes.
Distinction can be definitely made only by
a positive family history for the other affected children in FEL.
The diagnostic distinction between FEL
& IAHS can be made by acute onset of IAHS and underlying
infection.
CLASS III :
Malignant Histiocytosis
Acute Monocytic Leukaemia.
HISTOPATHOLOGICAL FINDINGS :
Neoplastic proliferation of cells with
characteristics of monocytes macrophages or their precursors.
