Pathophysiology

1) characterized by proliferation of histiocytes (Langerhans’ cells) 2) considered a variant of Langerhans’ cell histiocytosis (along with eosinophilic granuloma disease and Letterer-Siwe disease 3) mostly affects children 4) usually fairly indolent in nature with an intermediate prognosis between eosinophilic granuloma (best) and Letterer-Siwe (worst)

Signs and Symptoms

1) classic triad (occurs in one third of cases) – exophthalmos, diabetes insipidus, and multiple cystic effects of skull 2) lymphadenopathy 920%) 3) red crusty sores on trunk, hairline, and dorsum of hands and feet 4) bony lesions are typically the most impressive findings

Characteristic Test Findings

Radiology – 1) lytic bone lesions most commonly in the skull and in scapulae, ribs, pelvis, and jaw (causing “floating teeth”) 2) infiltrates in lung fields (20%)

Histology/Gross Pathology

1) Langerhans cells – proliferation and contain racket-shaped Birbeck’s granules 2) nucleus on H and E stain has a “kidney bean” appearance

Associated Conditions

1) hypopituitarism 2) deafness

Inheritance/Epidemiology

1) most commonly affects children age 2-5 years 2) occurs equally in boys and girls 3) makes up 20% of all cases of Langerhans’ cell histiocytosis

Treatment

1) radiation to destroy masses of histiocytes, especially if they are in the retro-orbital area 2) corticosteroids 3) cyclophosphamide 4) diabetes insipidus does not always reverse with treatment

Tips for USMLE

1) if question mentions cells that contain granules shaped like tennis rackets or nuclei that look like kidney beans, think Hand Schuller Christian disease 2) if the question mentions a 5 year-old girl with lytic bone lesions in her skull and exophthalmos, think Hand-Schuller-Christian disease 3) Langerhans cells – another term for histiocyte