Multicentric osteolysis, nodulosis, and arthropathy
Última atualização 18 de ago de 2020
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterised by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.
Descrição
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterised by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.
In most cases of MONA, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities can later spread to other areas of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature.
Many affected individuals develop subcutaneous nodules, which are firm lumps of noncancerous tissue underneath the skin, especially on the soles of the feet. Some affected individuals also have skin abnormalities including patches of dark, thick, and leathery skin. Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse."
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Al-Aqeel Sewairi syndrome
Hereditary multicentric osteolysis
MONA
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg syndrome
Torg-Winchester syndrome
Related patient information and medicines
Patient information leaflet
Hidradenite supurativa
Hidradenitis suppurativa is a long-term (chronic) skin condition that leads to painful and repeated lumps of pus (boils or abscesses). Hidradenitis suppurativa (HS) is a long-term (chronic) inflammatory skin disease with recurrent boil-like lumps. This is because they can cause serious side-effects such as 'thinning' of the bones ( osteoporosis ),.
Patient information leaflet
Protuberâncias e inchaços no pescoço
Protuberâncias e inchaços no pescoço are common and they have many possible causes. There are lots of different causes of neck lumps, which can develop from the many different structures in the neck. The most common cause of neck lumps is swollen, enlarged lymph nodes. Lymph nodes are an important part of the immune system, and contain a type of white blood cell,.
Patient information leaflet
síndrome de Sjögren
síndrome de Sjögren is an autoimmune disease that causes the glands that produce tears and saliva to stop working. It is a life-long condition but treatments can help co... Secondary Sjögren's syndrome This describes Sjögren's syndrome which occurs alongside another autoimmune disease such as rheumatoid arthritis or systemic lupus erythematosus..
Patient information leaflet
Úlceras do pé diabético
Some people with diabetes develop foot ulcers, due to poor skin circulation and reduced sensation in the feet. If your foot and ankle are affected by Charcot arthropathy (a condition of the foot and ankle caused by an inability to sense injuries, which can result in significant deformities). If your feet are more prone to minor cuts, grazes, corns.
Patient information leaflet
Artroscopia e cirurgia artroscópica
Arthroscopy is a surgical procedure which uses a thin telescope with a light source (an arthroscope) to look inside joints. As well as being able to look inside, the surgeon can use an arthroscope to perform keyhole surgery. Arthroscopy can also be used for other joints, including the shoulder, hip, elbow, wrist and ankle joints, and even for hand.
Patient information leaflet
Pés envelhecendo
As feet get older they lose some of their strength and springiness due to changes in the skin and joints. Feet tend to spread and lose the fatty pads that cushion them. Rheumatoid arthritis . Kidne... Osteoartrite . Bunions. Effects of ageing on feet The young foot is springy, strong and resilient. Inflammatory arthropathy, such as rheumatoid.
Leitura adicional e referências
- Multicentric osteolysis, nodulosis, and arthropathy; MedlinePlus, National Library of Medicine.
- Al Aqeel A, Al Sewairi W, Edress B, Gorlin RJ, Desnick RJ, Martignetti JA. Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. Am J Med Genet. 2000 Jul 3;93(1):11-8. doi: 10.1002/1096-8628(20000703)93:13.0.co;2-3.
- Al-Mayouf SM, Majeed M, Hugosson C, Bahabri S. New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome. Am J Med Genet. 2000 Jul 3;93(1):5-10. doi: 10.1002/1096-8628(20000703)93:13.0.co;2-y.
- Castberg FC, Kjaergaard S, Mosig RA, Lobl M, Martignetti C, Martignetti JA, Myrup C, Zak M. Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. Eur J Pediatr. 2013 Dec;172(12):1657-63. doi: 10.1007/s00431-013-2102-8. Epub 2013 Jul 31.
- Evans BR, Mosig RA, Lobl M, Martignetti CR, Camacho C, Grum-Tokars V, Glucksman MJ, Martignetti JA. Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. Am J Hum Genet. 2012 Sep 7;91(3):572-6. doi: 10.1016/j.ajhg.2012.07.022. Epub 2012 Aug 23.
- Martignetti JA, Aqeel AA, Sewairi WA, Boumah CE, Kambouris M, Mayouf SA, Sheth KV, Eid WA, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet. 2001 Jul;28(3):261-5. doi: 10.1038/90100.
- Rouzier C, Vanatka R, Bannwarth S, Philip N, Coussement A, Paquis-Flucklinger V, Lambert JC. A novel homozygous MMP2 mutation in a family with Winchester syndrome. Clin Genet. 2006 Mar;69(3):271-6. doi: 10.1111/j.1399-0004.2006.00584.x.
- Tuysuz B, Mosig R, Altun G, Sancak S, Glucksman MJ, Martignetti JA. A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. Eur J Hum Genet. 2009 May;17(5):565-72. doi: 10.1038/ejhg.2008.204. Epub 2008 Nov 5.
- Zankl A, Bonafe L, Calcaterra V, Di Rocco M, Superti-Furga A. Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet. 2005 Mar;67(3):261-6. doi: 10.1111/j.1399-0004.2004.00402.x.
- Zankl A, Pachman L, Poznanski A, Bonafe L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A. Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res. 2007 Feb;22(2):329-33. doi: 10.1359/jbmr.061013.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.