Netherton 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 2.35A) - AR, SPINK5 gene defect (encodes serine protease inhibitor LEKT1)
- Presents at or near birth with generalized erythroderma and scaling, ± collodion membrane
- Triad of congenital ichthyosis (ichthyosis linearis circumflexa {ILC} or congenital ichthyosiform erythroderma {CIE}), trichorrhexis invaginata (TI, bamboo-like or ball-and-socket appearance of hair shaft), and atopy
- ILC: serpiginous or circinate erythematous plaques with double-edged scale
- TI: most specific hair finding (eyebrow with high yield), trichorrhexis nodosa is most common
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