ALTERNATE NAMES

Eosinophilic Granuloma; Hand-Schuller-Christian Disease; Histiocytosis X; Langerhans Cell Histiocytosis; LCH; Letterer-Siwe Disease; Pulmonary Histiocytosis X; Pulmonary Langerhans Cell Histiocytosis; PLCH; Rosai-Dorfman-Destombes Disease; Rosai-Dorfman Disease; Sinus Histiocytosis with Massive Lymphadenopathy

DESCRIPTION

Histiocytosis syndromes is a general name for a group of rare disorders that occur when histiocytes proliferate and form masses or granulomas with associated destruction of surrounding tissue. A histiocyte is an immune system cell belonging to the mononuclear phagocyte system and normally found throughout the body, especially in skin, lymph nodes, lungs, bone marrow, and the spleen. When histiocytes build up they can cause damage or tumors to form in one or more parts of the body.

Some types of histiocytosis syndromes include:

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  Langerhans cell histiocytosis (LCH) also known as Hand-Schuller-Christian disease, Letterer-Siwe disease, eosinophilic granuloma, Histiocytosis X, and Pulmonary Histiocytosis X; and

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  Rosai-Dorfman disease (RDD) also known as sinus histiocytosis with massive lymphadenopathy and Rosai-Dorfman-Destombes disease.

These conditions can affect both adults and children.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-COM CODING

Diagnostic testing: Histiocytosis syndromes are varied. Some can mimic other disorders. This makes diagnosis difficult. Diagnostic testing for histiocytosis syndromes may include:

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  Imaging including x-rays, positron emission tomography (PET) scan, computed tomography (CT), magnetic resonance imaging (MRI), and bone scan;

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  Blood tests including complete blood count (CBC) and comprehensive blood panel;

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  Pulmonary function test (PFT);

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  Bronchoscopy;

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  Endoscopy;

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  Liver function tests;

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  Genetic testing such as fluorescence in situ hybridization (FISH) testing; or

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  Biopsy of skin or bone marrow.

Physical findings: Symptoms and signs histiocytosis syndromes depend on the type and the area of the body that is affected.

In children, these may include:

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  Abdominal pain;

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  Scaly or waxy rash;

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  Bone pain;

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  Delayed puberty;

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  Growth failure due to pituitary involvement;

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  Irritability;

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  Failure to thrive;

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  Mental deterioration;

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  Seizures;

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  Headache;

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  Frequent urination due to diabetes insipidus;

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  Liver problems, which can include jaundice (yellowing of the skin or whites of the eyes), fluid in the belly, diarrhea, or vomiting;

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  Weight loss;

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  Swollen lymph nodes; and

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  Night sweats.

Children over age 5 usually only have bone involvement.

Adults may experience:

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  Bone pain;

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  Cough and shortness of breath;

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  Fever;

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  Frequent urination;

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  Weight loss; and

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  Rash.

ICD-9: 202.5, 277.89

ICD-10: J84.82

PROGRESSION

Histiocytosis syndromes are highly variable in severity. Disease with few lesions involving skin, bone, or lymph nodes is generally considered “low risk” for developing severe symptoms. On the other hand, “high risk” disease has multiple systemic lesions which may involve the lungs, liver, or bone marrow and may be difficult to treat.

Long-term side effects such as diabetes insipidus, stunted growth, loss of teeth, bone defects, hearing loss, or neurologic problems may develop. Infants and young children are more likely to have systemic disease that leads to death.

TREATMENT

For mild cases of a histiocytic disease, observation is often the choice as the disease will frequently spontaneously resolve. For local isolated lesions in more severe cases, surgery and radiation can be considered. Other treatments may include psoralen and ultraviolet A (PUVA), immunotherapy, and stem cell transplant. Recent DNA findings in LCH and RDD have led to the conclusion that these diseases are neoplastic (abnormal growth of tissues that may or may not be cancerous) and treatment of severe and systemic presentations now frequently utilize chemotherapy. The very severe cases of these diseases can occasionally lead to death, even with modern treatment.

Suggested MER for Evaluation:

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  Clinical history and physical examination that describes the diagnostic features of the impairment;

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  Biopsy of the affected organ system; and

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  Functional assessment of the organ system involved (for example, PFTs).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

3.02

8.09

103.02

108.09

Listing level severity must be documented.

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