Disorders with pigmented lesions

Figure 2.26 A: Waardenburg syndrome (Reprint from Levine N, Levine CC. Dermatologic Therapy: A–Z Essentials. New York: Springer; 2009.) B: Clinodactyly of 5th finger
Figure 2.26
A: Waardenburg syndrome
(Reprint from Levine N, Levine
CC. Dermatologic Therapy:
A–Z Essentials. New York:
Springer; 2009.
)
B: Clinodactyly of 5th finger
McCune–Albright Syndrome (Polyostotic Fibrous Dysplasia)
  • Sporadic, GNAS 1 gene mutation, encodes α subunit of Gs adenylate cyclase
  • Large café-au-lait macules (geographic border), precocious puberty, pathological fractures, endocrine abnormalities (hyperparathyroidism, hyperthyroidism, acromegaly), sclerosis at base of skull
   
 
MCCune – Café au lait macules, preCocious puberty; do NOT confuse with Albright hereditary osteodystrophy (pseudohypoparathyroidism)
 
   

Russell–Silver Syndrome
(Figure 2.26B)
  • Presents with triangular facies, hemihypertrophy, clinodactyly of the fifth finger, syndactyly of second/third toes