title: A xanthogranulomatous histiocytosis in a child presenting with short stature.
abstract: We evaluated a 7-year-old boy presenting with a neck mass that was diagnosed as juvenile xanthogranuloma on excisional biopsy. Despite this diagnosis, an exhaustive evaluation was undertaken because of marked short stature. Examination revealed growth hormone deficiency and diabetes insipidus, as well as widespread lesions in the head, mediastinum, retroperitoneum, skeleton, and elsewhere. Biopsies of the lesions in the mediastinum and right tibia suggested a diagnosis of xanthoma disseminatum with bony involvement, suggesting the Erdheim-Chester variant of xanthogranulomatous histiocytosis, previously reported only in adults. The diagnosis is contrasted to the more common clinical entities of juvenile xanthogranuloma and the Langerhans' cell histiocytoses. This case illustrates the gravity with which otherwise unexplained short stature should be considered.
authors.affiliation: Department of Pediatrics, New York Hospital-Cornell Medical Center, New York.
authors.forename: H
authors.initials: H
authors.lastname: Globerman
authors.forename: S
authors.initials: S
authors.lastname: Burstein
authors.forename: P J
authors.initials: PJ
authors.lastname: Girardina
authors.forename: P
authors.initials: P
authors.lastname: Winchester
authors.forename: S
authors.initials: S
authors.lastname: Frankel
mesh_terms: D002648:Child; D006130:Growth Disorders / Q000209:etiology*; D013006:Growth Hormone / Q000172:deficiency; D006258:Head and Neck Neoplasms / Q000473:pathology; D015614:Histiocytosis / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D014057:Tomography, X-Ray Computed; D014972:Xanthogranuloma, Juvenile / Q000150:complications / Q000175:diagnosis* / Q000473:pathology
chemical_list: D013006:Growth Hormone