McCune‐Albright Syndrome with Multiple Bilateral Cafe au Lait Spots

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.

Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders

“…Café-au-lait spots are common in numerous systemic disorders and are also described on the neck in neurofibromatosis, piebaldism and McCune-Albright syndrome [79, 80]. The McCune-Albright syndrome (MIM 174,800) is characterized by polyostotic fibrous dysplasia, precocious puberty and large café-au-lait spots also documented on the neck [80].…”

“…The McCune-Albright syndrome (MIM 174,800) is characterized by polyostotic fibrous dysplasia, precocious puberty and large café-au-lait spots also documented on the neck [80]. They may occur in the lines of Blaschko documenting somatic mosaicism.…”