Definition

Histiocytosis is a group of rare diseases there histiocytes (special white blood cells: tissue macrophages) by mistake are stored in large quantities in various organs. Histiocytosis was previously (WHO 1987) divided into three main groups:

1. Langerhans histiocytosis
2. Non-Langerhans 
3. Malignant (malignant) histiocytosis

Later, it is proposed to be divided into five main groups (reference: Emile JF, 2016).

• Older names of the diseases are Histiocytosis-X, Letter-Seven disease, Hand-Chüller-Christian disease and diffuse reticulo-endotheliosis
• Tissue samples (biopsy) are sometimes described by histiocytosis as "eosinophilic granuloma"

Occurrence

Histiocytosis is defined as one rare disease.

Symptoms

Symptoms and findings vary.

• The most common disease onset is in childhood and early adolescence,
• Some types can debut among adults
  • Erdheim-Chester's disease
  • Pulmonary histiocytosis (subgroup of Langerhans cell hypertrophy, attacks lungs)
  • Reticulo-histiocytosis (may resemble Arthritis, RA)

Diagnosis

The diagnosis is made on the basis of symptoms and investigation findings. One uses CT-MR and PET / CT examinations, but the result of tissue test (biopsy) is crucial.

1. The "L" (Langerhans) group

• Langerhans cell histiocytosis

  

  Langerhans Histiocytosis Swelling of the head / scalp. Failla V, Rare Tumors (2010). Open

  • Symptoms and severity vary from harmless to severe
  • 76% are children under the age of 10
  • Fever
  • Weight Loss
  • Multiple skeletal swelling, most often in the head / skull
  • Eczema and wounds, most often on the head (80%)
  • Hepatosplenomegaly (large liver and spleen) and lymph node enlargements
  • Lungs with asymptomatic, nodular opacities (pulmonary histiocytosis X)

• Erdheim-Chester disease

• 

  Erdheim-Chester, histiocytosis with skeletal changes close to the ankle joint. Adawi M, Mdicine (Baltimore) 2016, CC BY-NC-ND 4.0

   

  • Multi-organ Illness
  • Men more frequent than women
  • Debut age on average 55 years (16-80year)
  • Skeletal sclerosis in the long bones
  • Please read more on our own page about Erdheim-Cehster's disease here

• Juvenile xanthogranuloma with manifestation beyond the skin

  • Skin abnormalities
  • Nervous system (CNS), liver and spleen, eye, throat, muscles
  • Most often children under the age of 1, but can also be seen in older children and adults

2. The “C” group (Cutan (skin) and mucocutane (skin and mucous membranes)

• Reticulo-histiocytosis (restricted and multisentric type); please read more here

  • Multisentric type
    • Severe arthritis (joint inflammation) in hands
    • Widespread skin and significant Arthritis-changes
    • Usually women 50-60 years
    • Varying, swinging disease activity over several years
• Xantogranulom group
  • Different forms that can attack from young children to adults
  • Some or many red-yellow nodules in the skin
  • 0,5-1,0 cm in diameter
  • If other organs are also included, the disease is classified in the “L” Group (see above)

• Sea-blue histiocytosis

  • Skin affection with histiocytes in adipose tissue
  • Hereditary or after prolonged parenteral fatty nutrition

3. “M” (Malignant / Cancer) Group. Malignant histiocytosis

• Symptoms: Cough, decreased appetite, anemia, dyspnoea
• Lungs, lymph nodes, liver, spleen and CNS may be affected by histiocytic infiltration (biopsy)
• Various primary forms that are separated from lymphoma by a tissue sample
• Secondary forms of lymphoma and leukemia
  • Subtype of acute Myeloid leukemia
  • More than 20% blasts at bone marrow examination
    

    Acute monocyte leukemia

4. "R" (Rosai-Dorfman) group and various forms that do not attack skin

• Rosai Dorfman Disease, Sinus Histiocytosis with Massive Lymphadenopathy (SHML)
• Definition
  • Rare disease with many different manifestations including swollen lymph
  • The tissue sample (biopsy) that is critical to the diagnosis shows a typical image of histiocytes containing lymphocytes.
  • Usually attacking children and young adults
• Symptoms
  • Fever, night sweats, fatigue, weight loss
• Medical investigation and findings
  • Varying symptoms and changes: Swollen lymph nodes, most often on the throat
  • Skin changes with fat loss
  • Stuffy nose and sinuses
  • Pressure behind eyes and double vision
  • Enlarged spleen
  • Osteonecrosis
• Diagnosis
  • Symptoms and investigation findings may cause suspicion
  • Biopsy is essential
• Differential diagnosis
  • GPA (Wegener's granulomatosis)
  • Panniculitis
  • Langerhans histiocytosis
  • Lymphoma
  • Sarcoidosis
  • Tuberkulosis (Tbc)
  • IgG4 related disease
• Treatment
  • Immunosuppressive drugs
  • Corticosteroids may be sufficient in some

5. “H” Group. Hemophagocytic Lymphohistiocytosis (HLH) og Macrophage activation syndrome (MAS)

• Cytokin storm with uncontrolled activation of lymphocytes and macrophages (special types of white blood cells in the immune system)
• See Macrophage activation syndrome (MAS)

Literature

• Emile JF, 2016
• Allen CE, 2015 (Treatment)
• Grischikowsky M, 2015 (Management)
• Grans Compendium in Rheumatology

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