First diagnosis of Martin‐Albright syndrome in a 58‐year‐old patient

Summary Albright hereditary osteodystrophy (AHO), also known as Martin‐Albright syndrome (MAS), is a rare autosomal dominantly transmitted disease characterized by short stature, obesity, mental retardation, a round facies, and brachymetacarpia and ‐tarsia, as well as cutaneous calcification. The di...

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Bibliographic Details
Published in:Journal der Deutschen Dermatologischen Gesellschaft 2009-01, Vol.7 (1), p.43-45
Main Authors: Quist, Sven R., Franke, Ingolf, Hiort, Olaf, Gollnick, Harald P., Leverkus, Martin
Format: Article
Language:eng ; ger
Subjects:
Albright hereditary osteodystrophy
Calcinosis - diagnosis
Erythema - diagnosis
Female
GNAS gene
Gsα activity
Humans
Intellectual Disability - diagnosis
Martin‐Albright syndrome
Middle Aged
pseudohypoparathyroidism
Syndrome
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Summary:Summary Albright hereditary osteodystrophy (AHO), also known as Martin‐Albright syndrome (MAS), is a rare autosomal dominantly transmitted disease characterized by short stature, obesity, mental retardation, a round facies, and brachymetacarpia and ‐tarsia, as well as cutaneous calcification. The disease is caused by mutations in the GNAS gene localized on chromosome 20q13.2 encoding for an adenyl‐cyclase‐stimulating protein (Gsα). A 58‐year‐old patient presented with small stature since childhood, moderate mental retardation, round facies and soft tissue masses on the thighs. A biopsy of the latter showed subcutaneous ossification. Laboratory results showed hypocalcemia, as well as increased plasma levels of PTH and calcitonin. The clinical diagnosis was confirmed by detection of reduced activity of Gsα. In patients with cutaneous calcification and disturbed calcium metabolism, AHO is an important differential diagnostic consideration.
ISSN:1610-0379
1610-0387
DOI:10.1111/j.1610-0387.2008.06862.x