CHILD Syndrome | 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) |
(Figure 2.35B) - Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- XLD, NSDHL gene defect, encodes NADPH steroid dehydrogenase-like protein (enzyme 3b-hydroxysteroid-dehydrogenase)
- Presents at or near birth with striking unilateral ichthyotic erythroderma (face typically spared); over time erythema fades while hyperkeratosis persists
- Ipsilateral alopecia, ipsilateral organ aplasia/agenesis, ± cleft palate
- Ipsilateral skeletal defects such as hypoplasia of digits or ribs to complete amelia, stippled epiphyses (seen in early infancy and resolves during childhood)
|
