McCune-Albright syndrome is a rare, mosaic genetic condition. It is characterised by a range of endocrine, skin and skeletal issues, including café-au-lait macules, precocious puberty (in females) and polyostotic fibrous dysplasia.
Legius syndrome is a rare genetic condition characterised by the presence of multiple café-au-lait macules and age-dependent skin freckling. Wider associations include larger head size, neurodevelopmental difficulties and (in adulthood) lipomas.
Gorlin syndrome, also known as naevoid basal cell carcinoma syndrome, is a rare genetic condition characterised by the development of jaw cysts, basal cell carcinomas, palmar pits and plantar pits.
McCune-Albright syndrome is a mosaic disorder caused by variants in the GNAS gene. It occurs sporadically and vertical transmission (inheritance from a parent) has never been reported. It is characterised by café-au-lait macules, endocrine dysfunction and polyostotic fibrous dysplasia.
Café-au-lait macules are flat pigmented patches that can be found anywhere on the body. They are typically light to dark brown in colour. While having one or two is generally common, multiple café-au-lait macules in children, especially when accompanied by other suggestive features, may indicate an underlying genetic condition.