Which physical findings are characteristic of Langerhans cell histiocytosis (LCH)?

Updated: Sep 16, 2020
  • Author: Cameron K Tebbi, MD; Chief Editor: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP  more...
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Answer

When the disease is focal, establishing the diagnosis of Langerhans cell histiocytosis depends on a high level of suspicion. When advanced multisystem involvement is observed, diagnosis is often easy. Adequate workup to determine the extent of the disease and possible complications is essential. Biopsy and pathologic evaluation are needed to establish the diagnosis.

  • Bone involvement is observed in 78% of patients with Langerhans cell histiocytosis and often includes the skull (49%), innominate bone (23%), femur (17%), orbit (11%), and/or ribs (8%). Lesions of other bones are less common. See the image below.

    Clinically detectable skull lesions in a child wit Clinically detectable skull lesions in a child with advanced Langerhans cell histiocytosis (LCH).

     

    See the list below:

    • Upon clinical evaluation, the lesions can be singular or multiple. Asymptomatic or painful involvement of vertebrae can occur and can result in collapse.

    • Long-bone involvement can induce fractures. The lesions sometime cause a clinically significant periosteal reaction. Extension to the adjacent tissues can produce symptoms that may be unrelated to the bone involvement. Likewise, extraosteal involvement can occur in virtually any anatomic location, causing severe symptoms. [109]

    • In patients with advanced Langerhans cell histiocytosis, lesions may be clinically detectable in the skull (see Imaging Studies and the image above).

    • Ocular and periorbital involvement have been reported. [110] Manifestation of the disease often includes periorbital edema. Imaging studies may reveal destructive osteolytic lesions. The disease is usually unilateral, but bilateral involvement can occur. Biopsy is needed for confirmation. Treatment often includes partial resection and chemotherapy. [111]

  • Purulent otitis media may occur and may be difficult to distinguish from infectious etiologies. Long-term sequelae, including deafness, are reported. Orbital involvement may cause proptosis. Involvement of the eyes in the form of uveitis and iris nodules are reported. [112]

  • Diabetes insipidus and delayed puberty are observed in as many as 50% of patients (usual range is 15-25%). [113, 114, 115, 116, 117] Hypothalamic disease may also result in growth-hormone deficiency and short stature. [116, 118]

  • Maxillary, mandibular, and gingival disease may cause loss of teeth, hemorrhagic gum, and mucosal ulceration and bleeding. [119] Erosion of the gingiva (see the image below) may give the appearance of premature eruption of the teeth in young children. [119, 120]

    Erosion of the gingiva that creates the appearance Erosion of the gingiva that creates the appearance of premature eruption of the teeth in a young child.
  • Cutaneous Langerhans cell histiocytosis is observed in as many as 50% of patients with Langerhans cell histiocytosis. [121, 122, 123, 124] Rash is a common presentation, and skin lesions may be the only evidence of the disease or may be part of systemic involvement (see the image below). [125] Skin infiltrates have a predilection for the midline of the trunk and the peripheral and flexural areas of skin. Skin infiltrates can be maculoerythematous, petechial xanthomatous, nodular papular, or nodular in appearance. Bronzing of the skin can occur.

  • Scalp disease frequently presents as scaly, erythematous patches, which may become petechial and eroded with serous crust (see the image below). The lesions often are not pruritic, but tenderness and alopecia can occur. In infants, a nodular form of the disease marked by eruption of lesions that mimic varicella has been reported. [122, 123, 126] This variety of the disease may spontaneously remit; this feature led to the name self-healing Langerhans cell histiocytosis.

  • Pulmonary involvement is observed in 20-40% of patients and may result in respiratory symptoms, such as cough, tachypnea, dyspnea, and pneumothorax. A male predominance is observed. Pulmonary function test results may be abnormal. [127, 128] Diffuse cystic changes, nodular infiltrate, pleural effusion, and pneumothorax are known to occur. [129] Imaging studies may reveal cysts and micronodular infiltrates. Pulmonary function tests may reveal restrictive lung disease with decreased pulmonary volume. [127, 128]

  • GI bleeding may be the presenting sign of patients with GI involvement. Appropriate imaging studies, endoscopy, and biopsy may be helpful to confirm the diagnosis. Liver involvement is characterized by elevated transaminase levels and, less commonly, increased bilirubin levels. Marrow involvement or enlargement of the spleen may cause hematologic changes.

  • Lymph node enlargement is observed in approximately 30% of patients. In rare cases, the nodes are symptomatic. If the volume is massive, it may obstruct or damage the surrounding organs and tissues. [130, 131] Suppuration and chronic drainage may occur. Lymph node enlargement surrounding the respiratory tract may result in pulmonary-related symptoms, such as cough, dyspnea, or cyanosis. Involvement of the thymus is relatively uncommon but does occur. [132]

  • Infiltration of various areas of the brain gives rise to corresponding signs and symptoms, including cerebellar dysfunction and loss of coordination. [133] Disruption of hypothalamic and pituitary function is most common. This includes symptoms secondary to diabetes insipidus and, to a lesser extent, growth-hormone deficiency and hypopituitarism. [118, 133, 134] Other symptoms, such as seizures and those related to increased intracranial pressure, depend on the site and volume of the space-occupying lesion. Anemia, leukopenia, thrombocytopenia, and their related symptoms are uncommon.

  • CNS disease with CSF involvement especially in craniopharyngeal cases is known to occur. [135]


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