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Table 1 Clinical presentation

From: McCune-Albright syndrome

Clinical feature

Presentation/Feature

Café-au-lait spots

appearance: "coast-of-Maine", location: nape of neck, base of spine; usually respect midline; trunk & face more commonly involved than limbs (Figure 1)

Fibrous dysplasia (FD)

phosphatase, medullary cavity of the bone. [16, 18]

Craniofacial FD

nerve decompression is contraindicated [40, 41]

Axial FD

usually asymptomatic, scoliosis common and possibly progressive [56] rib pain develops late

Appendicular FD

often painful in adults, but pain is quite variable [17, 18]

Gonadal – Female

Vaginal bleeding, breast development with little or no pubic hair, secondary central PP often develops, GnRH test [66]

Gonadal – Male

common, detectable by ultrasound only, cancer rare, but possible [67]

Thyroid abnormalities

ultrasound and biopsy large solid or changing lesions [3], cancer can occur [24]

Phosphaturia

worsens pain [6]; etiology is FGF23 of FD bone origin [43]

Growth hormone (GH) excess

suggests GH excess, worsens craniofacial FD [5, 41]

Cushing syndrome

quite ill, spontaneous resolution possible [9]

Additional clinical features

alopecia [70], myxomas and others cutaneous abnormalities [71]