Langerhans Cell Histiocytosis
(Haemophagocytic Histiocytosis, Familial Erythroid Lymphohistiocytosis)
Langerhans cell histiocytosis is a very rare
disorder which can effect children of any age but most frequently those under
two years of
age. The name of the disease is derived from the type of body cell involved - the
"histiocyte", - osis meaning increased numbers. Older textbooks still use the
terms "Eosinophilic Granuloma" for disease that effects a single part of the
body (eg. bones), Hans-Schuller-Christian disease (involving bones, pituitary gland and
causing protuberance of the eyes) and Letterer-Siwe disease (affecting infants and
involving liver, spleen, bone marrow and skin). They were named after the physicians first
described them and were once thought to be separate diseases.
Histiocytes are normal tissue cells and are found
in many organs in the body. They are derived from cells in the bone marrow (macrophages)
and migrate to their various tissue sites via the blood stream. Those that migrate to the
skin are called "Langerhans cells", to the liver "Kupffer cells", and
those found in the bone are called "Osteoblasts". They are also found in the
lungs, the lymph glands and spleen, the gut and in the brain especially around the
WHAT IS THE DISEASE?
It is easier to say what it is not!
Histiocytosis is not a cancer: The cells
involved in the disease probably do not multiply in an uncontrolled fashion as happens in
cancer, but rather migrate to a site in abnormal numbers or wander outside their normal
tissue compartment. Recently it has been shown that many patients with Histiocytosis have
a deficiency of a certain type of white blood cell (suppressor Lymphocyte). Whether this
is the cause or effect of the disease we don't yet know, but it seems possible that the
primary disturbance is within the body's self-defence system - the immune system - and is
caused by a disturbance of the way in which cells involved in the immune response (making
of antibodies) "talk" to each other. The factors provoking this disturbance are
unknown so prevention is at present not possible.
Histiocytosis is not infectious:
(catching) but it may develop after an infection and may be inherited in some families. It
can come and go spontaneously and is not life-threatening unless organs such as bone
marrow, liver or lungs, which are vital to sustain life, are severely affected.
HOW WILL IT SHOW ITSELF?
The two commonest parts of the body in which
Histiocytosis occurs are in the bones (commonly skull or limb) producing a painful lump or
severe scalp rash like cradle cap it may present as a groin rash like severe nappy rash or
as reddish brown pinhead spots that may appear on the body. Chronic ear discharge can be
the presenting symptom and enlargement of the liver and spleen can cause abdominal
swelling. When the disease affects the pituitary gland (as it does in 20-30% of cases,
though not necessarily at the beginning of the illness) it causes a disturbance of water
balance called diabetes insipidus. This produces excessive thirst both day and night and
the need to pass urine frequently in large amounts. In some patients the eyes may become
prominent ("exophthalmos"). The disease may be accompanied by generalised
symptoms such as loss of appetite, failure to gain weight, anaemia and recurrent fevers.
Occasionally, the lungs are affected and disease in this site may result in a somewhat
increased breathing rate or pain in the chest and acute breathlessness due to the collapse
of a lung.
Only some of these features (perhaps only two or
three of them) occur in individual patients, and that some, such as liver, spleen and bone
marrow involvement, are more likely in younger than in older patients. Others, such as
bone involvement and exophthalmos, are more common in older children. We do not know why
the "pattern" of disease involvement varies in this way.
WHAT INVESTIGATIONS ARE NEEDED TO DIAGNOSE IT?
Diagnosis is usually made by taking a small
sample (a biopsy) of the tissue involved, such as skin rash, bony swelling or liver, for
microscopic examination. It is then necessary to determine the extent of the disease.
Information about the bones and lungs is obtained from x-rays. A blood test determines
liver function and cellular production by the bone marrow, but a needle biopsy (sample) of
the bone marrow is required and will be carried out under either sedation or anaesthesia.
Breathing tests may be necessary to determine lung function while water balance may be
tested by measuring the concentration of a urine specimen that passes after an overnight
When the disease was thought to be a cancer, the
normal method of treatment involved radiotherapy and chemotherapy (cancer drugs). Cancer
specialists therefore gained experience of the disease and an interest in treating it.
This is why your child will be referred to a cancer clinic. Histiocytosis is a disease
which can disappear spontaneously - we call this spontaneous remission. Because of this,
there is a chance that no treatment need be given at all, especially if the disease is in
a part of the body, such as a non-weight bearing bone, where no serious damage is being
caused. Treatment will only be needed if there are symptoms such as pain, fever, or
failure to gain weight, or if important organs such as liver, lungs and bone marrow are
affected. If the disease is confined to one organ, local treatment is directed to that
organ, whilst if the disease is generalised a systemic (generalised) treatment will be
The most useful drugs (chemotherapy) are
Vincristine, Vinblastine, VP16 and steroids. These are given by intravenous injection,
usually at 1-3 weekly intervals, depending on the individual patient. Radiotherapy is
rarely needed as most bony lesions will respond to local operation or steroid injection.
Scalp rash is treated by coconut oil ointment
which is put on and left overnight. Next morning it is washed off with a shampoo such as
Cetavlon and the affected areas covered with a steroid lotion. Skin rash may respond to
soaking in potassium permanganate followed by the application of a steroid lotion or
cream. A cleansing cream preparation rather than soap and water should be used for
Replacement water balance pituitary hormone
(pitressin) may be required. This is usually given in the form of nose drops, two to three
times daily. This replacement treatment is likely to be required lifelong.
WHAT PRECAUTIONS SHOULD I TAKE?
Children with lesions in weight-bearing bones are
at risk of fracture but usually the site is painful and therefore protected by the child
by non-use. Provided there is evidence of healing and no pain there is usually no need to
restrict activity. Children should be encouraged to live a normal life and attend school
An important feature of Histiocytosis is the way
in which it can appear (relapse) and disappear (remission). Sometimes this is spontaneous
and sometimes in response to treatment. Single system disease is associated with a high
incidence of spontaneous remission. Multi-system disease may spontaneously remit
(disappear) but usually needs treatment. Disease in the lungs, bone marrow, liver and
spleen is very resistant to treatment. On the whole the younger the child at diagnosis and
the more organs involved, especially if these organs are vital to sustain life, the poorer
the outlook. The disease tends to run a more chronic course the older the child becomes
and although it may not be life threatening may leave the child with chronic problems such
as chronic ear discharge, deafness, unsightly scalp lumps, protuberant eyes
(exophthalmos), diabetes insipidus or breathing problems.
Because the cause is still not understood and
because individual cases vary so much, Histiocytosis is a very difficult disease to
explain and understand. Each child is an individual and discussion with the treating
specialist will help you to understand about his/her individual problems.