Hereditary multicentric osteolysis with recessive transmission: A new syndrome

Torg, Joseph S.; DiGeorge, Angelo M.; Kirkpatrick, John A.; Trujillo, Modesto Martinez

doi:10.1016/s0022-3476(69)80395-1

Cited by 70 publications

(52 citation statements)

References 18 publications

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“…Two subclassifications were distinguished: hereditary multicentric osteolysis ( H M O ) and multicentric osteolysis with nephropathy (MON). H M O is transmitted most frequently as a dominant trait ( 1,9,12,13,15,18), but has been reported as a recessive in one family after a consanguinous marriage occurred (14). Five cases of M O N have been described (6-8, 10, 1 1, 15, 18, 19).…”

Section: Discussionmentioning

confidence: 99%

“…Since the carpal and tarsal bones are invariably affected, this disease had previously been called "carpal and tarsal osteolysis" (2,3) or "disappearing carpal bones" (4). Little is known about its pathogenesis, hence, some chose to describe it as "essential" ( S I I ) , whereas others emphasized that the disorder in some cases was hereditary (12)(13)(14) or occasionally associated with fatal nephropathy (6,8,11,13,15). Recent and comprehensive reviews have been published (1,2,7,12).…”

mentioning

confidence: 99%

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Idiopathic Multicentric Osteolysis

Whyte

Murphy

Kleerekoper

et al. 1978

Arthritis & Rheumatism

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Genetic, rheumatologic, immunologic, metabolic, and renal studies of a father and son with idiopathic multicentric osteolysis are reported. The disorder appeared through mutation. The father developed symptoms as an infant, his son at age 4 years and 9 months. Both have micrognathia and hypotelorism and were exceptionally tall during the symptomatic phase of their disease. Biopsies of the son's wrist showed normal synovium, encroachment on cartilage by fibrocellular tissue, and both osteoclastic resorption and repair of affected bone. Hydroxyproline in his urine was increased. No immunologic, renal, or other metabolic abnormalities were identified. Idiopathic multicentric osteolysis (IMO) is the name chosen by Tyler and Rosenbaum ( I ) in 1976 for a rare disorder characterized by multifocal articular bone destruction beginning in infancy or childhood. Typically, pain and swelling of the wrists and ankles begin after an episode of trauma, persist during childhood, and then remit during adolescence leaving variable deformity of the hands and feet. Since the carpal and tarsal bones are invariably affected, this disease had previously been called "carpal and tarsal osteolysis" (2,3) or "disappearing carpal bones" (4). Little is known about its pathogenesis, hence, some chose to describe it as "essential" ( S I I ) , whereas others emphasized that the disorder in some cases was hereditary (12-14) or occasionally associated with fatal nephropathy (6,8,11,13,15). Recent and comprehensive reviews have been published (1,2,7,12). Our purpose is to describe the results of clinical, genetic, and laboratory studies of a family in which dominant transmission of IMO followed its appearance through mutation. FAMILY DESCRIPTIONCase 1 (Figure 1, 111-1) An 8% year old boy was the product of a normal first pregnancy and delivery. H e was well until age 4% when he injured his left elbow. Although clinical examination did n o t indicate trauma, radiographs reportedly disclosed a "hairline"

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Idiopathic Multicentric Osteolysis

Whyte

Murphy

Kleerekoper

et al. 1978

Arthritis & Rheumatism

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“…In the same year, Torg et al, (1969) [3] described 3 siblings with mild to moderate osteoporosis, osteolytic changes of the bones of the hands and feet. Their skin manifestations that resembled Winchester syndrome but with subcutaneous nodules and less severe skeletal involvement.…”

Section: Nosologymentioning

confidence: 99%

“…With the delineation of specific osteolysis syndromes, eponyms were also employed. These included 'Winchester' [2] ,'Torg' [3] and the conjoined eponym is in current use.…”

Section: Introductionmentioning

confidence: 99%

Oro-Dental Manifestations and Implications of the Osteolyses

Chetty¹,

Roberts²,

Stephen³

et al. 2017

JDOC

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The Osteolyses are a group of uncommon genetic disorders which are characterized by progressive resorption of bone. This process ultimately results in significant physical handicap with pathological fractures representing an additional complication. The skeleton in the Osteolyses is radiolucent and the manifestations resemble those of Osteogenesis Imperfecta.A boy with a confirmed diagnosis of Torg-Winchester syndrome attended the metabolic bone clinic at Grey's Hospital and his clinical and radiological features have recently been published [1] . The dental and craniofacial manifestations of this boy form the subject of this article. These features tend to be overshadowed by the more dramatic skeletal changes in the limbs. Nevertheless, appropriate dental care is an important component of the overall management of this severe condition.

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“…Tip3 herediter geçişi olmayan nöropati ile birlikte çocuklukta görülen tiptir. Tip4 bizim vakamızda olduğu gibi Gorham veya (Gorham-Stout) sendromu olarak geçen herhangi bir yaşta iskeletin herhangi bir yerinde görülen monosentrik osteolizdir.Nöropati ile ilişkili değildir.Tip 5 ise Winchester sendromu, otozomal çekinik karakterli, deri ve gözde tutulum mevcuttur [18][19][20] . Hiperpa ratiroidizm ayırıcı tanıda düşünülen diğer bir olgudur.…”

Section: Vaka Raporuunclassified

Gorham Hastaliği: Nadi̇r Görülen Bi̇r Olgu

KÖŞTEN¹,

Orhan²

2016

Atatürk Üniversitesi Diş Hekimliği Fakültesi Dergisi

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Gorham disease is a rare bone disorder without any known etiology. The bone resorption starts simultaneously and keep continue along with the years. The typical location is the mandible. The diagnosis and the treatment poces great challenge on these cases.A female patient, 52 years old age was referred to outpatient clinic with the chief complaint of bone resorption and missing teeth. After an intensive clinical evaluation, it was figured out no teeth in the mandible and also asymmetry intra-oral. Her anamnesis revealed that the bone resorption started in 1995 simultaneously with extensive bone resorption. The radiographic examination showed missing left mandible/condyle and as also missing teeth. The histopathology showed angiomatous inflammatory hyperplasia. Based on patient"s history, anamnesis ad clinical/radiographic findings Gorham disease was diagnosed. Diagnosis and management of Gorham disease is challenging. Maxillofacial radiologist should be aware from this disease for differential diagnosis and proper treatment.

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Hereditary multicentric osteolysis with recessive transmission: A new syndrome

Cited by 70 publications

References 18 publications

Idiopathic Multicentric Osteolysis

Idiopathic Multicentric Osteolysis

Oro-Dental Manifestations and Implications of the Osteolyses

Gorham Hastaliği: Nadi̇r Görülen Bi̇r Olgu

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