(Figure 2.35C) - XLD (different from severe AR rhizomelic form), mutation in EBP gene, coding emopamil-binding protein (sterol isomerase activity) → accumulation of 8(9) cholesterol and 8-dehydrocholesterol (impaired cholesterol synthesis)
- Presents at birth with ichthyosiform erythroderma → hyperkeratosis replaced by linear/patchy follicular atrophoderma and ice pick–like scars
- Chondrodysplasia punctata: stippled or punctate calcification of the epiphyses or “stippled epiphyses” (detected during infancy)
- Cataracts, deafness, scarring alopecia, frontal bossing with flat nasal bridge
| | | | | | CONradi – think of a CON man who becomes crippled with stippled epiphyses | | | | | |
|
| | Figure 2.35
A: ILC in Netherton syndrome
(Courtesy of Dr. Michelle
B. Bain)
B: CHILD syndrome
(Reprint from Burgdorf WH,
Plewig G, Wolff HH,
Landthaler M, eds. Braun-
Falco’s Dermatology. 3rd ed.
Heidelberg: Springer; 2009)
C: Chondrodysplasia punctata
(Reprint from Laxer RM, ed.
The Hospital for Sick Children:
Atlas of Pediatrics. Philadelphia,
PA: Current Medicine; 2005) |
|
