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First diagnosis of Martin‐Albright syndrome in a 58‐year‐old patient
Author(s) -
Quist Sven R.,
Franke Ingolf,
Hiort Olaf,
Gollnick Harald P.,
Leverkus Martin
Publication year - 2009
Publication title -
jddg: journal der deutschen dermatologischen gesellschaft
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.463
H-Index - 60
eISSN - 1610-0387
pISSN - 1610-0379
DOI - 10.1111/j.1610-0387.2008.06862.x
Subject(s) - gnas complex locus , short stature , pseudohypoparathyroidism , medicine , calcitonin , endocrinology , differential diagnosis , calcification , biopsy , ossification , parathyroid hormone , pathology , calcium , anatomy , gene , genetics , biology
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.