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] |