Work

Dystrophic calcifications point the way—Unusual and early diagnostic clue of Conradi-Hünermann-Happle syndrome

Year: 2018

Type: article

Abstract: Conradi-Hünermann-Happle syndrome (chondrodysplasia punctata 2) is a rare X-linked dominant disorder of cholesterol metabolism that results in a spectrum of skeletal, cutaneous, and ocular abnormalities with an estimated prevalence of 1 in 100,000.1,2 The disorder results from a mutation in the emopamil-binding protein (EBP) gene encoding EBP, a 3β-hydroxysteroid-δ8, δ7-isomerase.3 The mutation is lethal in boys, but in girls it results in a mosaic pattern of congenital ichthyosiform erythroderma within the first months of life, evolving into linear follicular atrophoderma and hypopigmented whorls distributed along Blaschko lines.

Source: JAAD Case Reports

DOI: 10.1016/j.jdcr.2017.10.018