Marrow

Langerhans Cell Histiocytosis

search

Langerhans Cell Histiocytosis, Multifocal Eosinophilic Granuloma, Hand Schüller Christian Syndrome, Histiocytosis X, Lipoid Histiocytosis

  • Epidemiology
  1. Rare Prevalence: 4 to 5 per 1 Million Children
  • Precautions
  1. Exercise caution in age <3 years presenting with atypical, refractory skin lesions (often misdiagnosed initially)
  • Pathophysiology
  1. Rare group of disorders with proliferation of Langerhans Cells (White Blood Cell subtype)
    1. Originates in the Bone Marrow from progenitor cell proliferation of myleoid Dendritic Cells
  2. Lesions infiltrate bones (80% of cases, esp. skull), skin, lung and in some cases the Pituitary Gland
  3. Most often presents in childhood, especially infancy, with atypical skin lesions mistaken for other conditions (e.g. Eczema)
  4. Oncogenic mutation BRAF V600E found in 64% of cases
  • Symptoms
  1. Fever
  2. Sore Oral Mucosa
  3. Atypical rash (see below)
  • Findings
  1. Classic Triad (10%)
    1. Lytic bone lesions (esp. Skull defects)
    2. Diabetes Insipidus
    3. Exophthalmos
  2. Multisystem findings in >87% of patients with skin lesions
    1. Acute disseminated multisystem disease is more common in age <3 years
    2. Growth retardation
    3. Developmental Delay
  3. Oral Changes
    1. Gum swelling and necrosis
    2. Extrusion of teeth
  4. Atypical skin lesions
    1. Seborrhea-like lesions
      1. Scaly red-brown Papules
    2. Eczema-like lesions
      1. Erythematous, scaly lesions on scalp, flexor folds
    3. Petechiae, Purpura or hemorrhagic crusts
    4. Other lesions
      1. Minute xanthomatous Nodules
      2. Raised yellow to brown lesions in neck and axilla
  5. Bone lesions (80% of cases)
    1. Skull is most often affected
  6. Hematologic
    1. Lymphadenopathy
    2. Hepatomegaly
    3. Splenomegaly
  7. Lung changes
    1. See Pulmonary Histiocytosis X
  • Labs
  1. Complete Blood Count
    1. Hemoglobin or Hematocrit consistent with Anemia
    2. White Blood Cell Count consistent with Leukopenia
    3. Platelet Count consistent with Thrombocytopenia
  2. Chemistry panel and Serum osmolarity
    1. Diabetes Insipidus changes
  • Imaging
  1. Chest XRay
    1. Lung Lesions
  • Diagnosis
  1. Skin biopsy
  2. Bone Marrow Biopsy
  • Prognosis
  1. Multisystem disease
    1. More common in age <3 years
    2. Worse prognosis if involvement of liver, Bone Marrow or Spleen (five year survival 77%)
  2. Single organ involvement
    1. More common in age >3 years old
    2. Better prognosis with five year survival approaching 100%
  • References
  1. Shafique (2022) Am Fam Physician 105(2): 114-5 [PubMed]
  2. Krooks (2018) J Am Acad Dermatol 78(6): 1035-44 [PubMed]