Progeria overview: Difference between revisions
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The most common cause of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is [[mutation]] in ''[[LMNA]]'' [[gene]]. | The most common cause of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is [[mutation]] in ''[[LMNA]]'' [[gene]]. | ||
==Differentiating | ==Differentiating progeria from Other Diseases== | ||
[[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) must be differentiated from other diseases such as Atypical [[progeria]] syndromes, [[Restrictive dermopathy]], [[Familial partial lipodystrophy type 1|Familial partial lipodystrophy]] (FPLD), [[Wiedemann–Rautenstrauch syndrome|Wiedemann-Rautenstrauch syndrome]], [[Congenital generalized lipodystrophy]], [[Cockayne syndrome]], Mandibuloacral dysplasia and Petty-Laxova-Wiedemann progeroid syndrome. | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
Revision as of 15:29, 9 August 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Historical Perspective
Hutchinson-Gilford progeria syndrome or progeria was first discovered by DeBusk and the name was given by Hastings Gilford. Dyck et al reported a patient who had progeria and underwent coronary artery bypass surgery and percutaneous transluminal angioplasty.De Paula Rodrigues et al described the involvement of bones and joints in progeria patients. The word progeria is of greek origin which means prematurely old.
Classification
Progeria may be classified according to genotype into two groups: Classic progeria and atypical progeria.
Pathophysiology
It is thought that Hutchinson-Gilford progeria is due to mutation in LMNA gene.
Causes
The most common cause of Hutchinson-Gilford progeria syndrome (HGPS) is mutation in LMNA gene.
Differentiating progeria from Other Diseases
Hutchinson-Gilford progeria syndrome (HGPS) must be differentiated from other diseases such as Atypical progeria syndromes, Restrictive dermopathy, Familial partial lipodystrophy (FPLD), Wiedemann-Rautenstrauch syndrome, Congenital generalized lipodystrophy, Cockayne syndrome, Mandibuloacral dysplasia and Petty-Laxova-Wiedemann progeroid syndrome.