Histiocytosis X often affects the whole body. A disease that affects the whole body is called a systemic disorder.

Symptoms can vary between children and adults, although there can be some overlap. Tumors in weight-bearing bones, such as the legs or spine, may cause the bones to fracture without apparent reason.

Symptoms in children may include:

• Abdominal pain
• Bone pain (possibly)
• Delayed puberty
• Dizziness
• Ear drainage that continues long-term
• Eyes that appear to stick out (protrude) more and more
• Irritability
• Failure to thrive
• Fever
• Frequent urination
• Headache
• Jaundice
• Limping
• Mental deterioration
• Rash (petechiae or purpura)
• Seborrheic dermatitis of the scalp
• Seizures
• Short stature
• Swollen lymph glands
• Thirst
• Vomiting
• Weight loss

Note: Children over 5 years old often have only bone involvement.

Symptoms in adults may include:

• Bone pain
• Chest pain
• Cough
• Fever
• General discomfort, uneasiness, or ill feeling (malaise)
• Increased amount of urine
• Rash
• Shortness of breath
• Thirst and increased drinking of fluids
• Weight loss

The tumors produce a "punched-out" look on a bone x-ray. Specific tests vary depending on the age of the patient.

Tests in children may also include:

• Biopsy of skin to check for the presence of Langerhans cells
• Bone marrow biopsy to check for the presence of Langerhans cells
• Complete blood count (CBC)
• X-rays of all the bones in the body (skeletal survey) to find out how many bones are affected

Tests in adults may include:

• Bronchoscopy with biopsy
• Chest x-ray
• Pulmonary function tests

Histiocytosis X is sometimes associated with cancer. CT scans and biopsy should be done to rule out possible cancer.