History and exam
Key diagnostic factors
common
age <15 years
Disease is more frequent in children. The mean age at diagnosis of patients aged <15 years is 30 months.[6]
bone pain and/or swelling
Indicative of bone involvement.
Bone lesions are present in 80% of patients, and are commonly seen on the scalp.[10] Lytic osseous lesions are seen in 30% to 50% of adults, and can occur as single-system or multi-system disease.[12]
Most common site of swelling is over the skull bones, and this is usually painless.
skin rash
Indicative of skin involvement. Most common location is the scalp.[29]
Most common lesion in the first few months of life is a papulosquamous rash that affects the scalp, skin folds, and midline of the trunk.[30][31]
A single or multiple violaceous papulonodular, and sometimes vesicular, rash may also occur, but is rare and may disappear spontaneously.[32]
Among adults, isolated skin involvement is less common, and mostly seen as a part of multi-system disease (30% to 50%).[12] Peri-anal or genital involvement is more common in adults and can be very disabling and resistant to treatment.
polyuria and polydipsia
Diabetes insipidus is the most common endocrinological manifestation; it is more common in patients with multi-system disease and those with craniofacial bone lesions.[27]
Risk is high in patients when the disease has been active for a long period of time, or when the disease is reactivated.
growth or sexual maturation failure
Indicative of central nervous system involvement (anterior pituitary gland).
vertebra plana
Spondylitis with reduction of the vertebral body to a thin disc. Leads to compression and collapse of the vertebral body.
Neurological complications may arise from extension of Langerhans cells into the extradural space.
hepatosplenomegaly
Indicative of liver and spleen involvement.
Other diagnostic factors
common
uncommon
cytopenias
Indicative of bone marrow involvement.[2]
fever
A non-specific but common symptom in infants with multi-system disease.[59]
anorexia
Non-specific symptom.[2]
weight loss
Non-specific symptom.[2]
irritability
Non-specific symptom.[2]
ear pain
Presence of otitis externa can be due to extension of the skin rash into the ear canal and secondary infection with Pseudomonas aeruginosa.[47]
ear discharge
Middle ear involvement can occur secondary to lesions in petrous temporal or mastoid bones, causing intermittent ear discharge.[48]
hearing loss
Inner ear involvement can present with deafness, or with behavioural disturbances in younger children.[49]
perforated tympanic membrane
May occur with middle ear involvement.
headache
May indicate central nervous system involvement.[2]
neurological signs
Indicative of central nervous system involvement.
Patient may present with seizures, focal neurological deficits, or progressive cerebellar symptoms such as nystagmus, dysarthria, and hypotonia.[27]
A neurodegenerative syndrome can occur in up to 4% of patients, and usually manifests as ataxia, dysmetria, dysarthria, and behavioural changes.[3][60]
bloody diarrhoea
Indicative of gastrointestinal involvement.[51]
oral mucosa lesions
Indicative of oral involvement.
Includes gingival hypertrophy, and ulcers of the palate, tongue, or lips.[50]
May precede the onset of disease in other parts of the body.
lymphadenopathy
Usually part of multi-system disease, but can also occur in isolation, or is sometimes associated with a single bone lesion.[38][39]
Superior vena cava syndrome can result from mediastinal lymph node or thymic enlargement.[40] Careful analysis of phenotype and histopathology is recommended to differentiate reactive Langerhans cells in LCH from primary malignant histiocytosis of the lymph node.
thyroid enlargement
Patients may present with massive thyroid enlargement; however, this is rare.[52] Signs of hypothyroidism may be present.
Risk factors
strong
smoking
In adolescents and adults, smoking has been found to be a clear risk factor for the development of lung involvement. Most children with systemic disease who developed pulmonary disease in adolescence or adulthood started smoking cigarettes before this event.[23]
weak
family history of thyroid disease
Multi-system and single-system disease have both been associated with a family history of thyroid disease.[24]
perinatal infections
An increase in infections and the use of antibiotics in the first 6 months of life have been associated with multi-system disease.[24]
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