Definition
Epidemiology
Clinical description
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] |