Abstract
McCune-Albright syndrome is characterized by the triad café-au-lait cutaneous spots, polyostotic fibrous dysplasia and endocrinopathies. This article presents two cases of McCune-Albright syndrome in a middle-aged woman and a young girl. Both patients presented café-au-lait spots on the face and other parts of the body and expansion of the mandible with radiopaque-radiolucent areas with ground-glass radiographic appearance, and were diagnosed as having fibrous dysplasia and endocrine disorders. The patient of Case 1 had fibrous dysplasia on the upper and lower limbs, thorax, face and cranium, early puberty, hyperglycemia, hyperthyroidism and high serum alkaline phosphatase levels. The patient of Case 2 presented lesions on the upper limbs and evident endocrine disorders. In both cases presented in this article, the initial exam was made because of the mandibular lesion. However, a diagnosis of fibrous dysplasia must lead to investigation of the involvement of other bones, characterizing polyostotic fibrous dysplasia, which is manifested in a number of diseases. An accurate differential diagnosis is mandatory to determine the best treatment approach for each case.
Highlights
McCune-Albright syndrome is a rare systemic disease with uncertain prevalence
The classic manifestation of this syndrome is characterized by the triad café-au-lait cutaneous spots, polyostotic fibrous dysplasia and endocrinopathies [2,3]
The most common endocrine disorders are disturbances on sexual hormones, thyroid gland abnormalities, pituitary gland abnormalities and adrenal gland abnormalities (Cushing’s disease, weight gain, fragile skin and growth retard). Both patients described in this paper presented precocious puberty, elevation on serum alkaline phosphatase levels, hyperglycemia and hyperthyroidism, facial asymmetry, enlargement of the mandible, delayed tooth eruption, and tooth displacement, rotation or malformation
Summary
McCune-Albright syndrome is a rare systemic disease with uncertain prevalence. By counting the number of patients in small closed island communities, it has been estimated that its prevalence may be around 1:30,000 (unpublished data) [1]. The café-au-lait skin pigmentation consists of large hypermelanotic maculae of irregular and serpiginous (coast of Maine) borders, which occur mainly on the front, posterior area of the neck, buttocks, thorax, back, shoulder and pelvis [7]. This pigmentation rarely appears on the face, lips and buccal mucosa [8]. Fibrous dysplasia is a benign condition in which normal bone tissue is replaced by fibrous tissue and haphazardly distributed irregular bone trabeculae [5] It may affect either a single bone (monostotic) or multiple bones (polyostotic)
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