Albright syndrome is an unusual type of disease with varied symptoms.
In this disease, a mutation
occurs sometime after conception, affecting only some of the body's
number and type of symptoms depend on which cells—and
thus which organs—are
have found that the mutation affects the gene
that codes for he same G-protein
involved in cholera. This G-protein gets stuck in the "on" position.
In skin cells, this causes darker than normal pigment. If the mutation
affects bone cells, it causes weakness and fractures. In hormone-producing
cells, the mutation causes the release of excess hormones.
cells and bone cells are affected in this 4-year-old girl
with McCune Albright syndrome. She wears a body cast because
of bone fractures. The mosaic pattern of darkened
skin is visible.
(Courtesy of the Developmental Endocrinology Branch, NICHD)