Clinical Features

Clinical manifestations depend on the site of lesions, number of involved sites, and extent to which the function of the involved organs is compromised.

Although replaced by more prognostically reliable systems (see Tables 22-10 and 22-12 later in this chapter) the classic designations—eosinophilic granuloma, Hand-Schuller-Christian disease, and Abt-Letterer-Siwe disease—are useful descriptions of the various clinical manifestations of LCH.

Eosinophilic granuloma, solitary (SEG) or multifocal (MEG), are found predominantly in older children, as well as in young adults, usually within the first three decades of life with the incidence peaking between 5 and 10 years of age. SEG and MEG represent approximately 60-80% of all instances of LCH. Patients with systemic involvement frequently have similar bone lesions in addition to other manifestations of disease.

Hand-Schuller-Christian disease (multisystem disease) consists of the clinical triad of lytic lesions of bone, exophthalmos, and diabetes insipidus. It is most commonly described in younger children aged 2-5 years and represents 15-40% of such patients, although this type of involvement is observed in all ages. Signs and symptoms include bony defects with exophthalmos due to tumor mass in the orbital cavity. This usually occurs from involvement of the roof and lateral wall of the orbital bones (although bony involvement is not necessary). Orbital involvement may result in vision loss or strabismus due to optic nerve or orbital muscle involvement, respectively. The most frequent sites of skeletal involvement include the flat bones of the skull, ribs, pelvis, and scapula. There may be extensive involvement of the skull, with irregularly shaped, lucent lesions, giving rise to the so-called geographic skull. Somewhat less frequently, long bones and lumbosacral vertebrae, usually the anterior portion of the vertebral body, are involved.

Oral involvement commonly affects the gums and/or palate. Erosion of the lamina dura gives rise to the characteristic "floating tooth" seen on dental radiographs. The entire mandible may be involved, with loss of bone leading to diminished height of the mandibular rami. Erosion of gingival tissue causes premature eruption, decay, and tooth loss. Parents of affected children, particularly infants, frequently report precocious eruption of teeth when, in fact, the gums are receding to expose immature dentition. Chronic otitis media, due to involvement of the mastoid and petrous portion of the temporal bone, and otitis externa are not uncommon.

Abt-Letterer-Siwe disease is the rarest (10% of cases) and most severe manifestation of LCH. Typically, patients are less than 2 years of age and present with a scaly seborrheic, eczematoid, sometimes purpuric rash involving the scalp, ear canals, abdomen, and intertriginous areas of the neck and face. The rash may be macu-lopapular or nodulopapular. Ulceration may result, especially in intertriginous areas. Ulcerated and denuded skin may serve as a portal of entry for microorganisms, leading to sepsis. Draining ears, lymphadenopathy, hepatosplenomegaly, and, in severe cases, hepatic dysfunction with hypoproteinemia and diminished synthesis of clotting factors can occur. Anorexia, irritability, failure to thrive, and significant pulmonary symptoms such as cough, tachypnea, and pneumothorax may occur as well. One of the most significant areas of involvement is that of the hematopoietic system, which may cause pancytopenia.

Other presentations of LCH are commonly seen. LCH can have a strictly nodal presentation, not to be confused with sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman disease. This presentation is characterized by significant enlargement of multiple lymph node groups, with little or no other signs of disease. In the pulmonary syndrome there is almost exclusive involvement of the lungs. This condition is usually seen in young adults in their third or fourth decade (and occasionally in adolescents) and may follow a severe and often chronic, debilitating course; patients may present with pneumothorax. In contrast, the pulmonary involvement in younger patients with system disease is frequently mild, although fulminant pulmonary disease may occur in this age group as well. Cutaneous disease with no evidence of dissemination has been described in children and adults. Rarely, patients present with deep subcutaneous skin nodules only (formerly described as Hashimoto-Pritzker syndrome).

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