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Presentation of LCH in Children

continued...

Oral mucosa

In the mouth, presenting symptoms include gingival hypertrophy, and ulcers of the soft or hard palate, buccal mucosa, or on the tongue and lips. Hypermobile teeth (floating teeth) and tooth loss may occur.[6,7] Lesions of the oral mucosa may precede evidence of LCH elsewhere.

Bone

LCH can occur in any bone of the body, although the hands and feet are often spared. Sites of LCH in children include the following:

  • Lytic lesion of the skull: The most frequent site of LCH in children is a lytic lesion of the skull,[8] which may be asymptomatic or painful. It is often surrounded by a soft tissue mass which may impinge on the dura.
  • Femur, ribs, humerus, and vertebra: The second most frequently involved skeletal sites are femur, ribs, humerus, and vertebra. Spine lesions may involve any vertebra, although involvement of the cervical vertebrae is most common and spine lesions are frequently associated with other bone lesions. Spine lesions may result in collapse of the vertebral body (vertebra plana). Vertebral lesions with soft tissue extension often present with pain and may present with significant neurologic deficits,[9] an indication for an urgent magnetic resonance imaging (MRI) scan.
  • Orbit: Proptosis from an LCH mass in the orbit mimics rhabdomyosarcomas, neuroblastoma, and benign fatty tumors of the eye.
  • Facial bones and anterior or middle cranial fossae: Lesions of the facial bones or anterior or middle cranial fossae (e.g., temporal, sphenoid, ethmoid, zygomatic) with intracranial tumor extension comprise part of a CNS-risk group. These patients have a threefold increased risk for developing diabetes insipidus and an increased risk of other CNS disease.

Lymph nodes and thymus

The cervical nodes are most frequently involved and may be soft- or hard-matted groups with accompanying lymphedema. An enlarged thymus or mediastinal node involvement can mimic lymphoma or an infectious process and may cause asthma-like symptoms. Accordingly, biopsy with culture and histologic examination is mandatory for these presentations.

Pituitary gland

The posterior part of the pituitary gland can be affected in patients with LCH causing central diabetes insipidus. (Refer to the Endocrine subsection in the Multisystem Disease Presentation section of this summary for more information.) Anterior pituitary involvement often results in growth failure and delayed or precocious puberty.

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