[Albright's hereditary osteodystrophy with multiple cutaneous osteomas].
Hereditary osteodystrophy of Albright's is a set of hereditary dystrophies associated or not with renal and bony resistance to the parathyroid hormone. Two observations of a true brotherhood are reported. These two patients had in common: short stature, obesity (especially facio-troncular), round face, flat and saddled nose, short neck, early cataract and mental deficiency. One of them showed fourth metacarpals. In these two cases there were cutaneous ossifications, markedly profuse on one of them than the other. These ossifications are a frequent manifestation of the osteodystrophy of Albright's. They appear as cutaneous nodules on any part of the body and are visible, palpable and present on X-ray examination. These ossifications share other phenotypic expressions of the disease and do not seem to be related to the resistance against parathyroid hormone.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002386:Cataract / Q000235:genetics; D005260:Female; D005357:Fibrous Dysplasia of Bone / Q000235:genetics*; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007738:Kyphosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010016:Osteoma / Q000235:genetics*; D010375:Pedigree; D011547:Pseudohypoparathyroidism / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics*
Ostéodystrophie héréditaire d'Albright avec ostéomes cutanés profus.