Title: Clinical Presentation and Diagnosis of Childhood Langerhans Cell Histiocytosis
1Clinical Presentation and Diagnosis of Childhood
Langerhans Cell Histiocytosis
- Jeffrey D. Hord M.D.
- Director Pediatric Hematology/Oncology
- Akron Childrens Hospital
- Akron Ohio
2LCH Facts
- LCH prevalence in children is 1/50000
- Annual incidence of LCH is 5-9/1000000 children
lt15 years old - Median age at diagnosis is 30 months old
- multisystem disease usually found in children lt 2
yr old - multifocal single site disease usually in
children 2-5 yr old - Males affected a little more often than females
- Affects all ethnic groups equally
- 70 of children have only 1 site of disease (bone
most common)
3Risk Factors for LCH
- Frequent infections and antibiotic use in first 6
months of life - Family history of thyroid disease
- Family history of relative of LCH (1 of children
with LCH have an affected relative) - Genetic basis for disease suggested by twin
studies- 92.3 of time when one identical twin is
affected so is the other this is only true 10
of time in non-identical twins
4Old LCH Classification
- Eosinophilic Granuloma
- isolated bone lesion
- Hand-Schuller-Christian Syndrome
- skull lesions exophthalmos (protruding eyes)
diabetes insipidus - Letterer-Siwe
- organomegaly (enlarged liver and/or spleen)
enlarged lymph nodes localized bone lesions
bleeding tendencies anemia
5New LCH Classification
- Multisytem Risk patients
- involvement of 1 or more of following bone
marrow spleen liver lung - Multisystem low risk patients
- Special sites
- multifocal bone disease (90 regression/resolution
rate) - central nervous system w/ higher risk of DI
(facial bones vertebral body with soft tissue
mass compressing spinal cord) - Single system/localized disease (skin lymph node)
6Clinical Presentation of LCH in Children
- Presenting signs and symptoms varies depending
upon areas involved - Disease can be isolated to one area or involve
multiple organ systems - Areas of potential involvement include bone
skin ears hypothalamic-pituitary axis bone
marrow lung liver intestines
7LCH- Bone Involvement
- Presents as pain and swelling rarely fracture
- Loose teeth if jaw involved
- Involved in 80 of patients
- 1/2 with 1 lesion 1/2 with multiple lesions
- 1/2 of all bone lesions found in skull and facial
bones - Eye may be pushed outward (proptosis) if orbits
involved - Lesions in bones may last for years
Image from Histiocytic Disorders of Children and
Adults Weitzman and Egeler (eds) 2005
8LCH- Bone Involvement
- 10 of those with bone involvement have vertebral
body involvement (collapsed vertebral body
vertebra plana) - May present with weakness or paralysis if there
is a soft tissue mass pushing on the spinal cord
Image from Histiocytic Disorders of Children and
Adults Weitzman and Egeler (eds) 2005
9LCH- Bone Involvement
- Often times bone lesions are found on x-ray by
coincidence - Of those with bone lesions 20 have lesions in
proximal limbs and 5 in distal limbs
Image from Histiocytic Disorders of Children and
Adults Weitzman and Egeler (eds) 2005
10LCH- Skin Involvement
- Skin involved in over 50 of cases (2nd most
commonly involved organ) - Crusty petechial papules in scalp often mistaken
for seborrheic dermatitis - Ear discharge may result from extension of scalp
rash and secondary infection (but middle and
inner ear can also be involved)
Image from Histiocytic Disorders of Children and
Adults Weitzman and Egeler (eds) 2005
11LCH- Skin Involvement
- Skin folds and diaper area frequently involved
- Distal limbs usually spared
Image from Histiocytic Disorders of Children and
Adults Weitzman and Egeler (eds) 2005
12LCH- Central Nervous System Involvement
- Involvement of hypothalamic-pituitary axis (HPA)
seen in about 25 of LCH cases - May present with excessive thirst and large urine
output. This is diabetes insipidus and is
usually permanent. - Median age of onset of HPA dysfunction is 4 years
- This is seen more often in those with facial bone
lesions. - Seen on CT or MRI of brain
- Reactivation rate of disease is 2-3 times higher
in those with HPA involvement - In up to 10 of those with multisystem disease
other CNS problems are found (mass lesion at
diagnosis or degenerative CNS changes 5-15 years
after diagnosis)
13LCH- Lung Involvement
- 15 of children with LCH have lung involvement
(usually small nodules on high-resolution CT scan
) - Almost never seen as the only site of involvement
- May not have any symptoms or may be breathing
faster than usual or feel short of breath - May be confirmed by lung biopsy or
bronchoalveolar lavage
14LCH- Liver/GI Involvement
- Soft enlarged liver often accompanied by
enlarged spleen - May see jaundice
- Decrease in proteins produced by liver (albumin
clotting factors) - GI tract involvement is rarely reported but may
present as diarrhea with blood and mucous
15LCH- Bone Marrow Involvement
- Hematologic problems are most often seen in those
lt 2 years old - Found in patients with more severe disease
- May present with bruising bleeding pale
appearance - The reason that the blood cell counts are low is
that histiocytes are engulfing the blood cell
precursors
16Basic Evaluation of a Child with Suspected LCH
- HISTORY - fever pain growth diarrhea urine
output thirst ear infections rashes behavior
lumps - PHYSICAL EXAM- height weight pubertal status
temperature lumps/bumps rashes bruising
jaundice ear discharge orbits gums palate
teeth lymph nodes size of liver and spleen
neuro exam eyes breathing/lungs swelling/edema - LABS- CBC iron studies ESR renal function
tests liver function tests albumin clotting
studies urine concentration bone marrow
aspiration HLA-typing - X-RAYS- chest x-ray skeletal survey /- bone
scan chest CT scan
17Diagnostic Findings of LCH
- CD1a antigen on the surface of lesional cells
- Birbeck granules in lesional cells by electron
microscopy - Provisional diagnosis made with characteristic
morphology S100 expression and expression of at
least 1 of these 3 markers ATPase
alpha-D-mannosidase peanut lectin
Image from Histiocytic Disorders of Children and
Adults Weitzman and Egeler (eds) 2005
