LCH is a disorder presenting in either single or multiple locations and thus causing a variety of signs and symptoms from mild to life-threatening. Single system presentations may be exclusively in the skin, bone, pituitary, or lungs. Patients affected in multiple systems most often have skin and bone involvement with any combination of other sites. When the liver, spleen, and bone marrow are involved, these patients are given the designation “high risk” which means the chance of death is approximately 15%. All patients with LCH in sites other than the bone marrow, spleen, and liver can be cured.
Bone involvement in children or adults presents as painful areas which may be swollen. In children, the skull is most often affected, followed by long bones of the upper and lower extremity, ribs and spine. When the temporal bones or mastoids are affected the patient may lose their hearing. These patients may present with pus draining from the ears and thought to have an infection. Other complications include fractures of long bones and compression of vertebrae causing extreme Pain and possibly spinal cord damage. LCH in the mastoid, orbital, sphenoid and temporal bones are considered “CNS Risk” because of increased incidence of pituitary and brain involvement. Jaw involvement in children may result in early eruption of teeth as well as swollen and Bleeding gums. Adults are more likely to have Lesions in the mandible and maxilla with resulting loss of teeth.
Patients may have skin involvement with extensive seborrhia-like rashes on the scalp that mimic persistent cradle cap; an erythematous papular Rash similar to Candida diaper rash; or deep ulcerative Lesions in the groin or arm pits or purplish-brown Lesions 3-6mm in diameter which are often mistaken for a viral infection. Many adult female patients have ulcerative Lesions in the genitalia. LCH Lesions on the tongue, gums, and inside the cheeks can resemble cold sores. It is very important that children presenting with skin LCH have a complete evaluation to ensure there is no other disease site. Infiltration of the liver and spleen causes massive abnormal enlargement of organs (organomegaly). Liver dysfunction causes hypoproteinemia with swelling of the arms and legs or abdomen. Patients may also have Jaundice (yellow color to the skin and the white part of the eyes). Lymph nodes in the cervical, axillary, and inguinal areas are most often affected, but mediastinal nodes may enlarge causing Wheezing and respiratory compromise.
Lung involvement results in rapid breathing and leakage of air around the lung (pneumorthorax). (Vassalo, Ronceray) Pulmonary LCH is more prevalent in adults because of the association with smoking. Coughing up blood (hemoptysis) is rare. Intestinal infiltration leads to crampy Pain and diarrhea, often with blood in it.
LCH in the bone marrow causes pancytopenia, but thrombocytopenia is often the most obvious problem with Bleeding and anemia that may be exacerbated by an enlarged spleen.
Endocrine abnormalities from LCH include excessive thirst and urination caused by damage to the back part of the pituitary gland. This condition is known as diabetes insipidus. (Prosch) If the front part of the pituitary gland is damaged by LCH, the patient may have low levels of thyroid hormone, growth hormone, adrenal stimulating hormone and the hormones that lead to sexual maturation.
Patients with cerebellar involvement present with difficulty walking or with Balance (ataxia), tremors of their hands with difficulty writing (dysmetria), trouble speaking (dysarthria) as well as difficulty learning and having abnormal behaviors. (Wnorowski), Mittheisz)