The significance of the cafe-au-lait spot in the diagnosis of certain disorders of childhood is still not as widely appreciated as it should be, partly due to lack of information as to the normal incidence of such pigmentation, and partly to confusion over its relation to other forms of congenital pigmentation. The varieties of congenital melanin pigmentation of the skin consist of a number of ...

The classical triad of McCune-Albright syndrome (MAS) consists of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. Etiology is genetically based and is explained by mosaicism of activating somatic mutations of the alpha-subunit of Gs protein. Clinical presentation is varied and is depend...

the classical triad of mccune-albright syndrome (mas) consists of polyostotic fibrous dysplasia (fd), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. etiology is genetically based and is explained by mosaicism of activating somatic mutations of the alpha-subunit of gs protein. clinical presentation is varied and is depend...

A child with Noonan syndrome and multiple cafe au lait spots, compatible in size and number with von Recklinghausen's neurofibromatosis, is presented. These features may represent a distinct genetic entity rather than the coincidence of two diseases.

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). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common...

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). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common...

INTRODUCTION McCune-Albright syndrome (MAS) is a rare disorder characterized by the classic triad of precocious puberty, polyostotic fibrous dysplasia and café-au-lait pigmented skin lesions. Cystic change is rare in fibrous dysplasia (FD), especially in McCune-Albright syndrome. There were no reports about cyst degeneration in MAS which resulted in abnormal visual acuity and visual fields. Her...

Case presentation: A 5-year-old girl initially suspected of having neurofibromatosis type 1 (NF1) due to developmental delay and café au lait spots. In March 2022, evolved with neurodevelopmental regression, progressive loss strength gait ataxia. Three months later she had an afebrile epileptic seizure, a computed tomography (CT) scan the brain was performed, which showed leukoencephalopathy mi...