Cafe Au Lait Spots Mccune Albright Syndrome

However they may be associated with syndromes such as neurofibromatosis type 1 and mccune albright syndrome.

Cafe au lait spots mccune albright syndrome. Mccune albright syndrome mas is classically defined by the clinical triad of fibrous dysplasia of bone fd café au lait skin spots and precocious puberty pp. The size and shape of the spots can vary in terms of description. Mccune albright syndrome mas is a rare sporadic disease characterized by bone fibrous dysplasia café au lait cal skin spots and a variable association of hyperfunctional endocrinopathies the estimated prevalence ranges between 1 100 000 and 1 1 000 000 mas manifestations are due to somatic activating mutations in the gnas gene which codes for the alpha subunit of the stimulatory. Cafe au lait spots are themselves benign and do not cause any illness or problems.

It is a mosaic disease arising from somatic activating mutations in gnas which encodes the alpha subunit of the gs g protein coupled receptor these mutations lead to constitutive receptor activation. Mccune albright syndrome is a rare sporadic disease defined by the triad of café au lait spots fibrous dysplasia of bone and endocrine disorder. We report a case of mccune albright syndrome diagnosed solely on the basis of the cutaneous signs. Early skeletal symptoms may include limping pain or fracture.

Diagnosis is classically confirmed by the presence of bone lesions or precocious puberty. The diagnosis of mccune albright syndrome may be suspected at birth based upon identification of the characteristic skin pigmentations cafe au lait spots. Mccune albright syndrome mas consists of at least 2 of the following 3 features. Cafe au lait spots of the skin are common and are usually the first apparent sign of mas the main skeletal feature is fibrous dysplasia which ranges in severity and can cause various complications.

In neurofibromatosis type 1 the spots tend to be described as ovoid with smooth borders. However in many cases the disorder may not be suspected until late infancy or childhood when precocious puberty develops or when bone deformities become obvious. 1 polyostotic fibrous dysplasia pfd 2 café au lait skin pigmentation see the image below and 3 autonomous endocrine hyperfunction eg gonadotropin independent precocious puberty. Mccune albright syndrome mas is a disorder that affects the skin skeleton and certain endocrine organs hormone producing tissues.

Your child s doctor will conduct a complete physical examination to check for cafe au lait spots and other symptoms of mccune albright syndrome. Mccune albright may be suspected at birth if the baby is born with café au lait spots. It was first described in 1937 by american pediatrician donovan james mccune and american. Other endocrine syndromes may be present including hyperthyroidism.

Fd can involve a single or multiple skeletal sites an.