OVERVIEW
Hand-Schüller-Christian disease, also known as subacute or chronic differentiated histiocytosis, used to be called Han-Schüller-Coch’s disease, which is a different manifestation of Langerhans cell histiocytosis (LCH) from Letterer-Siwe disease and eosinophilic granuloma of bone, because they share common histopathologic features, except that the age of onset is different and the clinical presentation is different. It is different from Letterer-Siwe disease and eosinophilic granuloma of bone in that they share common histopathologic features, except that the age of onset is different, the clinical manifestations are different, and there are acute and subacute forms with different prognoses.
Etiology
The etiology is unknown and may be related to immune dysfunction.
Symptoms
The disease is most common in children over 3 years of age and occurs rarely in adults. Patients develop ulcers or yellow tumors on the skin of the face, eyelids, trunk, perineum and axillae, and ulcers on the oral mucosa. Fibrosis occurs in the hilum and interstitium of the lungs due to infiltration of histiocytes and inflammatory cells, which can lead to right heart failure. Uremia occurs with pituitary or hypothalamic involvement. Cranium, skull base bone pterygoid saddle, maxilla and mandible, pelvis, femur, ribs and humerus can be involved, especially limited, unequal in size, irregular in boundary, clear margins, no sclerosis phenomenon of defective area, which resembles a map, so it is called map-like bone defects. The outer orbital wall and orbital roof bone are damaged orbital soft tissue may be involved to produce eyeball protrusion, but the real cause of eyeball protrusion is unknown. The triad of cranial map-like defects, proptosis, and urolithiasis occurs in typical cases, but it is rare for all three symptoms to occur simultaneously; in atypical cases, the three features do not occur simultaneously, or only one or two of the symptoms are present, and urolithiasis is a complication of the later stages of the lesion.
Examination
On examination, isolated, scattered yellow macules of the skin are seen. Bone marrow, rash site, and lymph node biopsies show large numbers of foam cells. x-rays show worm-eaten or digitized defects in the skull and osteolytic bone destruction in other flat bones.
Diagnosis.
The diagnosis is not difficult in patients presenting with the classic triad of urolithiasis, synostosis and digitiform bone defects. In atypical lesions laboratory tests should be performed and combined with imaging findings to establish the diagnosis.
Treatment
Prednisone 1mg/kg can be given orally daily and tapered after 2 months. Isolated lesions, bony lesions and proptosis can be treated with small doses of radiation therapy or chemotherapy with vincristine, cyclophosphamide, methotrexate and other drugs. It is best to implement the treatment with the cooperation of a pediatric oncologist.