ABSTRACT
Background: Hereditary multiple osteochondromas (HMOs) are a rare genetic disorder characterized by the formation of multiple benign osteochondromas that can undergo malignant transformation into chondrosarcoma. Case Description: A 24-year-old male with a history of HMO and osteochondroma surgery 4 years ago, presented with back pain and paresthesias. The magnetic resonance showed a right paravertebral infiltrating mass at the T12-L1 level causing spinal cord compression. Following en bloc resection of the tumor, the patient's symptoms/ signs resolved. The final pathological diagnosis was consistent with a chondrosarcoma. Conclusion: Chondrosarcomas secondary to HMO with spinal cord compression are rare. These patients often presenting with significant myelopathy/cord compression should undergo gross total resection where feasible to achieve the best outcomes.
ABSTRACT
Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE. In this family, a pathogenic variant c.544C > T (p. Arg182Ter) was identified in the EXT2 gene. This variant has been previously described in the literature, and here we are reporting the relationship with clinical findings. MHE is suspected according to the clinical manifestations; molecular research should be performed to establish the most frequent mutations. A support, diagnosis, and follow-up group should be created, and genetic counseling should be available for patients and families.
ABSTRACT
El síndrome de Langer-Giedion, también conocido como síndrome tricorrinofalángico tipo II, es una enfermedad hereditaria multisistémica que pertenece al grupo de síndromes por deleción de genes contiguos. La causa de este síndrome es una deleción heterocigota que compromete, por lo general, la región 8q23.3-q24.11 y afecta, principalmente, los genes TRPS1, RAD21 y EXT1. Este síndrome se caracteriza por osteocondromatosis múltiple en las extremidades, hipertricosis y fenotipo facial, que incluye pelo escaso en el cuero cabelludo, orejas grandes sobresalientes y nariz larga con una punta bulbosa. Se reporta el caso de un paciente colombiano con hallazgo de deleción en la región cromosómica 8q23.1-q24.12 mediante técnicas de hibridación genómica comparativa y hallazgos clínicos clásicos. Este es el primer caso reportado en Colombia.
The Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is a hereditary multisystemic disease part of the group of contiguous gene deletion syndromes. The cause of this syndrome is a heterozygous deletion that involves the chromosomal region 8q23.3-q24.11 and mainly affects genes TRPS1, RAD21, and EXT1. This syndrome is characterized by the presence of multiple osteochondromas in limbs, hypertrichosis, and facial phenotype that includes sparse scalp hair, large laterally protruding ears, a long nose with a bulbous tip. We report the case of a Colombian patient with finding of an 8q23.1-q24.12 deletion by comparative genomic hybridization array technique and classical clinical findings, being the first case reported in Colombia.
Subject(s)
Humans , Male , Child , Langer-Giedion Syndrome/diagnosis , Langer-Giedion Syndrome/genetics , Comparative Genomic Hybridization , Phenotype , ColombiaABSTRACT
The Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is a hereditary multisystemic disease part of the group of contiguous gene deletion syndromes. The cause of this syndrome is a heterozygous deletion that involves the chromosomal region 8q23.3-q24.11 and mainly affects genes TRPS1, RAD21, and EXT1. This syndrome is characterized by the presence of multiple osteochondromas in limbs, hypertrichosis, and facial phenotype that includes sparse scalp hair, large laterally protruding ears, a long nose with a bulbous tip. We report the case of a Colombian patient with finding of an 8q23.1-q24.12 deletion by comparative genomic hybridization array technique and classical clinical findings, being the first case reported in Colombia.
El síndrome de Langer-Giedion, también conocido como síndrome tricorrinofalángico tipo II, es una enfermedad hereditaria multisistémica que pertenece al grupo de síndromes por deleción de genes contiguos. La causa de este síndrome es una deleción heterocigota que compromete, por lo general, la región 8q23.3-q24.11 y afecta, principalmente, los genes TRPS1, RAD21 y EXT1. Este síndrome se caracteriza por osteocondromatosis múltiple en las extremidades, hipertricosis y fenotipo facial, que incluye pelo escaso en el cuero cabelludo, orejas grandes sobresalientes y nariz larga con una punta bulbosa. Se reporta el caso de un paciente colombiano con hallazgo de deleción en la región cromosómica 8q23.1-q24.12 mediante técnicas de hibridación genómica comparativa y hallazgos clínicos clásicos. Este es el primer caso reportado en Colombia.
Subject(s)
Comparative Genomic Hybridization , Langer-Giedion Syndrome/diagnosis , Langer-Giedion Syndrome/genetics , Child , Colombia , Gene Deletion , Humans , Male , PhenotypeABSTRACT
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.
Subject(s)
Exostoses, Multiple Hereditary/diagnosis , Quality of Life , Exostoses, Multiple Hereditary/complications , Exostoses, Multiple Hereditary/pathology , Humans , Male , Middle AgedABSTRACT
Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1 / EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de cartílago, localizadas en yuxtaposición a epífisis de huesos largos, aunque, en los casos graves, pueden presentar una amplia distribución. El inicio es variable desde los 2-3 años hasta los 13-15 y presenta una incidencia estimada que va de 1/18 000 a 1/50 000 casos en los países europeos. Se presenta el caso de un doble alelo mutante en el gen EXT1 no informado previamente en una adolescente y su familia con exostosis múltiple hereditaria.(AU)
ABSTRACT
Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1 / EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de cartílago, localizadas en yuxtaposición a epífisis de huesos largos, aunque, en los casos graves, pueden presentar una amplia distribución. El inicio es variable desde los 2-3 años hasta los 13-15 y presenta una incidencia estimada que va de 1/18 000 a 1/50 000 casos en los países europeos. Se presenta el caso de un doble alelo mutante en el gen EXT1 no informado previamente en una adolescente y su familia con exostosis múltiple hereditaria.
Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditariaDouble mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostosesdisease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18 000 to 1/50 000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses