title: Multiple Skeletal Deformities in a Middle-Aged Man.
abstract: A 54-year-old man was seen in our endocrinology clinic with evidence of a limited range of motion in his left foot. He had a history of diabetes mellitus type 2 and atrial fibrillation. His family history included evidence of skeletal deformities in some of his relatives. This could imply the potential existence of a hereditary condition. It is worth noting that spontaneous mutations have been reported in some cases. A pertinent physical examination revealed a surgical scar on the patient's left knee, a hallux valgus deformity on his left foot with compromised joint function, and painless bony prominences on that same foot. The skeletal survey findings were consistent with multiple hereditary exostoses. Multiple osteochondromatosis (MO) is a rare genetic disorder associated with serious complications that may significantly affect the health related quality of life of anyone having the disorder. To prevent further complications, these patients require long-term follow-up with regular clinical and radiological examinations.
authors.affiliation: Endocrinology and Metabolism Program Director, Endocrinology Department, San Juan City Hospital, San Juan, PR.
authors.forename: José Hernán
authors.initials: JH
authors.lastname: Martínez-Méndez
authors.affiliation: Endocrinology Department, San Juan City Hospital, San Juan, PR.
authors.forename: Madeleine
authors.initials: M
authors.lastname: Gutiérrez-Acevedo
authors.affiliation: Musculoskeletal Radiology, Radiology Department, University of Puerto Rico Medical Sciences Campus, San Juan, PR.
authors.forename: Ángel A
authors.initials: ÁA
authors.lastname: Gómez-Cintrón
authors.affiliation: Endocrinology Department, San Juan City Hospital, San Juan, PR.
authors.forename: Michelle
authors.initials: M
authors.lastname: Mangual-García
authors.affiliation: Endocrinology Department, San Juan City Hospital, San Juan, PR.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Sánchez-Cruz
authors.affiliation: Endocrinology Department, San Juan City Hospital, San Juan, PR.
authors.forename: Rafael
authors.initials: R
authors.lastname: Trinidad-Hernández
authors.affiliation: Endocrinology Department, San Juan City Hospital, San Juan, PR.
authors.forename: Mónica
authors.initials: M
authors.lastname: Santiago-Núñez
authors.affiliation: Endocrinology Department, San Juan City Hospital, San Juan, PR.
authors.forename: Carlos
authors.initials: C
authors.lastname: Figueroa-Núñez
authors.affiliation: Internal Medicine Program Director, Endocrinology Department, San Juan City Hospital, San Juan, PR.
authors.forename: María de Lourdes
authors.initials: Mde L
authors.lastname: Miranda-Adorno
authors.affiliation: Endocrinology Department, San Juan City Hospital, San Juan, PR.
authors.forename: Coromoto
authors.initials: C
authors.lastname: Palermo-Garófalo
authors.affiliation: Endocrinology Department, San Juan City Hospital, San Juan, PR.
authors.forename: Oberto
authors.initials: O
authors.lastname: Torres-Rafael
mesh_terms: D005097:Exostoses, Multiple Hereditary / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D011788:Quality of Life
keywords: Chondrosarcoma; Exostosin Genes; Hereditary Multiple Exostoses; Multiple Osteochondromatosis