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Genetic alterations can cause physiologic responses resulting in systemic and metabolic complications.
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These complications can cause significant deficits, as in Hurler and Williams syndromes, which can lead to debilitating disease and early death.
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These alterations may also lead to abnormal immune responses that affect significant organs and organ systems.
Atlas of the Oral and Maxillofacial Surgery Clinics
Metabolic and Autoimmune Syndromes
Section snippets
Key points
Fabry disease
Key points Fabry disease, also known as Anderson-Fabry disease, is an inherited X-linked recessive disorder of lysosomal storage.1, 2, 3 Fabry disease is the second most prevalent lipid storage disease after Gaucher disease and occurs from a deficient activity of lysosome hydrolase, alpha-galactosidase A.1, 2, 3, 4
Williams syndrome
Key points Williams syndrome, also known as Williams-Beuren syndrome, is a rare autosomal dominant neurodevelopmental disorder affecting men and women equally.1, 2, 3 Williams syndrome was first discovered in 1961 by J.C.P. Williams, who found patients with supravalvar aortic stenosis, facial anomalies, and mental retardation.4 Independently in 1962, A.J. Beuren found similar phenomena in his patients but also certain dental characteristics and pulmonary artery stenosis.5
Hurler syndrome
Key points Hurler syndrome is a rare autosomal recessive disease that is classified in a group of disorders called mucopolysaccharidosis. It is also known as mucopolysaccharidosis type 1-H. First described by Dr Gertrud Hurler in 1919, Hurler syndrome was discovered in 2 unrelated boys with similar characteristics including mental impairment, distortion of facial features, respiratory and cardiac disease, hepatosplenomegaly, and corneal opacities.1, 2, 3, 4 It is the most severe form of
Hunter syndrome
Key points Hunter syndrome, also known as mucopolysaccharidosis II, is a rare X-linked lysosomal storage disorder.1, 2, 3, 4, 5, 6, 7 Hunter syndrome was first described by Dr Charles Hunter8 in 1917, who described 2 brothers with significant skeletal deformities, including facial deformities with hearing deficiencies. The syndrome causes a deficiency in the lysosomal enzyme iduronate-2-sulphatase, which is responsible for cleaving sulfate from the glycol aminoglycosides dermatan sulfate and
Heerfordt syndrome
Key points Heerfordt syndrome is a rare manifestation of systemic sarcoidosis that includes fever, parotid swelling, uveitis, and facial nerve paralysis.1, 2, 3, 4, 5 It was described by Danish ophthalmologist Christian Heerfordt, who reported these traits without the connection to sarcoidosis.6 That direct link was reported in 1937 by Dr Jan Waldenstrom.7 The histology is classic for multiple noncaseating granulomas found in the parotid or salivary glands and lacrimal glands.1 Treatment of
Sjögren syndrome
Key points Sjögren syndrome is a chronic autoimmune inflammatory disease that primarily affects the exocrine glands.1, 2 It was first described by Swedish ophthalmologist Henrik Sjögren in 1933.3, 4 The syndrome can manifest as a primary disorder usually within the lacrimal and salivary glands or have systemic manifestations (most commonly rheumatoid arthritis or systemic lupus erythematosus), and is defined therefore as secondary Sjögren.2, 5 Although the exact cause is unknown, it seems that
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