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NSDHL-sEDD-CHILD

Previously: Congenital hemidysplasia-ichthyosiform naevus-limb defect (CHILD) syndrome

sEDD Gene: NSDHL XLD
Onset: Birth
Pathway: Lipid synthesis and transport
Category Paper: sEDD Paper
NSDHL-sEDD-CHILD: 4-year-old girl with linear red thickened plaques on the back and extending to the arm.

NSDHL-sEDD-CHILD: 4-year-old girl with linear red thickened plaques on the back and extending to the arm.

Key Clinical Clues

Unilateral patterned skin erythema/thickening and limb deformities.

Additional Cutaneous Features

Unique lateralization pattern of well-demarcated blaschkoid-to-broad bands of erythematous scaling plaques; variable extent; onychorrhexis if digital involvement.

Additional Extracutaneous Features

Prominent bone defects (shortened proximal bones); other congenital anomalies: cardiovascular, urogenital, neurological and ipsilateral thyroid or adrenal gland hypoplasia.

Treatment

Topical combination of statin and cholesterol (Paller, 2011).

References

König A, Happle R, Bornholdt D et al. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 2000; 90:339-46. || Traupe H, Has C. The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8-7 sterol isomerase and is biochemically related to the CHILD syndrome. Eur J Dermatol 2000; 10:425-8. || Bornholdt D, König A, Happle R et al. Mutational spectrum of NSDHL in CHILD syndrome. J Med Genet 2005; 42:e17.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer

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