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McCune-Albright syndrome with multiple bilateral café au lait spots
1Department of Dermatology, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee.
Insights
This case study details an infant diagnosed with McCune-Albright syndrome, presenting with distinctive skin pigmentation and significant fibrous dysplasia of the bone. Early diagnosis is crucial for managing this rare genetic disorder.
Area of Science:
- Pediatric Endocrinology
- Dermatology
- Genetics
Background:
- McCune-Albright syndrome is a rare genetic disorder characterized by the triad of polyostotic fibrous dysplasia, café au lait spots, and precocious puberty.
- However, the presentation can be variable, with some patients exhibiting only a subset of these classic features.
Observation:
- A 7-week-old infant presented with hyperpigmented macules (café au lait spots) noted from 5 days of age.
- At 15 months, the infant developed a limp, and radiographic evaluation revealed widespread bilateral fibrous dysplasia, particularly affecting the pelvis, femur, and tibia.
Findings:
- Histopathological examination of skin lesions confirmed epidermal melanosis consistent with café au lait spots.
- Despite the absence of endocrine abnormalities, the combination of extensive cutaneous and bony lesions strongly suggested McCune-Albright syndrome.
Implications:
- This case highlights the importance of recognizing McCune-Albright syndrome even in the absence of typical endocrine manifestations.
- Early identification of cutaneous and skeletal abnormalities is critical for timely diagnosis and management of McCune-Albright syndrome.
Abstract:
A 7-week-old infant developed hyperpigmented lesions at 5 days of age that gradually progressed to sharply demarcated, medium-brown macules of unusual configuration involving the neck, trunk, buttocks, upper arms, and right upper thigh. A biopsy specimen of a representative lesion showed changes of epidermal melanosis consistent with café au lait spot. At age 15 months the patient developed a limp. Roentgenographic evaluation showed widespread, bilateral changes of fibrous dysplasia, most severe in the right pelvis, femur, and tibia. At the present time he has no evidence of precocious puberty or other endocrinopathies. Despite the absence of endocrine abnormalities, these findings are consistent with a diagnosis of McCune-Albright syndrome with extensive bony and cutaneous lesions.
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