McCune-Albright syndrome
McCune-Albright syndrome (MAS) is a very rare disease characterizedby the triad of bone defects, skin hyperpigmentation, andvarious types of endocrine and non-endocrine manifestations. Itfalls into the category of sporadic genetic disorders and its exactincidence is unknown. In its more severe forms...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2011-06-01
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| Series: | Rheumatology |
| Subjects: | |
| Online Access: | http://www.termedia.pl/-Opis-przypadku-Zespol-McCune-a-Albrighta-,18,16770,1,0.html |
| _version_ | 1818594736332603392 |
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| author | Juraj Payer Jana Kollerová L’udmila Košťálová Tomáš Koller Peter Jackuliak Zdenko Killinger Jozef Rovenský |
| author_facet | Juraj Payer Jana Kollerová L’udmila Košťálová Tomáš Koller Peter Jackuliak Zdenko Killinger Jozef Rovenský |
| author_sort | Juraj Payer |
| collection | DOAJ |
| description | McCune-Albright syndrome (MAS) is a very rare disease characterizedby the triad of bone defects, skin hyperpigmentation, andvarious types of endocrine and non-endocrine manifestations. Itfalls into the category of sporadic genetic disorders and its exactincidence is unknown. In its more severe forms, the disease manifestsitself already in early childhood and can gradually affectmore and more organs throughout life. The extent and degree ofinvolvement of affected tissues are heterogeneous due to themosaicism of the genetic mutation. The disease is the subject ofextensive research and new pathogenetic mechanisms are beingelucidated, leading to new diagnostic and therapeutic choices. Inaddition, the authors present a case report of an adult femalepatient with McCune-Albright syndrome. The clinical picture isdominated by bone involvement, thyroid hyperfunction and persistenthyperestrogenism. The case report underlines the fact thatmanagement of patients with McCune-Albright syndrome continuesto be a challenge. |
| first_indexed | 2024-12-16T11:04:51Z |
| format | Article |
| id | doaj.art-0350f9b25adb4da3a5c212cea50d6efe |
| institution | Directory Open Access Journal |
| issn | 0034-6233 |
| language | English |
| last_indexed | 2024-12-16T11:04:51Z |
| publishDate | 2011-06-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Rheumatology |
| spelling | doaj.art-0350f9b25adb4da3a5c212cea50d6efe2022-12-21T22:33:52ZengTermedia Publishing HouseRheumatology0034-62332011-06-01493187197McCune-Albright syndromeJuraj PayerJana KollerováL’udmila KošťálováTomáš KollerPeter JackuliakZdenko KillingerJozef RovenskýMcCune-Albright syndrome (MAS) is a very rare disease characterizedby the triad of bone defects, skin hyperpigmentation, andvarious types of endocrine and non-endocrine manifestations. Itfalls into the category of sporadic genetic disorders and its exactincidence is unknown. In its more severe forms, the disease manifestsitself already in early childhood and can gradually affectmore and more organs throughout life. The extent and degree ofinvolvement of affected tissues are heterogeneous due to themosaicism of the genetic mutation. The disease is the subject ofextensive research and new pathogenetic mechanisms are beingelucidated, leading to new diagnostic and therapeutic choices. Inaddition, the authors present a case report of an adult femalepatient with McCune-Albright syndrome. The clinical picture isdominated by bone involvement, thyroid hyperfunction and persistenthyperestrogenism. The case report underlines the fact thatmanagement of patients with McCune-Albright syndrome continuesto be a challenge.http://www.termedia.pl/-Opis-przypadku-Zespol-McCune-a-Albrighta-,18,16770,1,0.htmlzespół McCune’a-Albrightabiałko Gpostać poliostotyczna dysplazji włóknistej kościautonomiczna nadczynność gruczołów wydzielania wewnętrznegoplamy typu café-au-lait |
| spellingShingle | Juraj Payer Jana Kollerová L’udmila Košťálová Tomáš Koller Peter Jackuliak Zdenko Killinger Jozef Rovenský McCune-Albright syndrome Rheumatology zespół McCune’a-Albrighta białko G postać poliostotyczna dysplazji włóknistej kości autonomiczna nadczynność gruczołów wydzielania wewnętrznego plamy typu café-au-lait |
| title | McCune-Albright syndrome |
| title_full | McCune-Albright syndrome |
| title_fullStr | McCune-Albright syndrome |
| title_full_unstemmed | McCune-Albright syndrome |
| title_short | McCune-Albright syndrome |
| title_sort | mccune albright syndrome |
| topic | zespół McCune’a-Albrighta białko G postać poliostotyczna dysplazji włóknistej kości autonomiczna nadczynność gruczołów wydzielania wewnętrznego plamy typu café-au-lait |
| url | http://www.termedia.pl/-Opis-przypadku-Zespol-McCune-a-Albrighta-,18,16770,1,0.html |
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