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Case Reports
. 2018 Nov 9;4(10):1010-1013.
doi: 10.1016/j.jdcr.2018.10.001. eCollection 2018 Nov.

Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears

Nathan Fackler  1   2 , Cameron Zachary  1   2 , Dong Joo Kim  1 , Janellen Smith  1 , Hege Grande Sarpa  1   3
Affiliations
Case Reports

Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears

Nathan Fackler et al. JAAD Case Rep. .
No abstract available

Keywords: CHILD syndrome; CHILD, Congenital hemidysplasia with ichthyosiform nevus and limb defects; CNS, central nervous system; NSDHL, NAD(P) dependent steroid dehydrogenase-like gene; SHH, sonic hedgehog hormone; X-linked dominant; congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome; congenital nevus; erythema; genodermatosis; hemidysplasia; limb defect; scaling.

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Figures

Fig 1
Fig 1
CHILD syndrome in a man. Right-sided congenital nevus with scaling and erythema involving the trunk (A) with Blaschkoid extension down the right anteromedial arm (B) and groin (C) extending down the ipsilateral thigh (D) in the setting of above-the-knee amputation for nonsalvageable lower limb defect.
See this image and copyright information in PMC

References

    1. Happle R., Effendy I., Megahed M., Orlow S.J., Küster W. CHILD syndrome in a boy. Am J Med Genet. 1996;62(2):192–194. - PubMed
    1. König A., Happle R., Bornholdt D., Engel H., Grzeschik K.H. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000;90(4):339–346. - PubMed
    1. Bornholdt D., König A., Happle R. Mutational spectrum of NSDHL in CHILD syndrome. J Med Genet. 2005;42(2):e17. - PMC - PubMed
    1. Paller A.S., van Steensel M.A., Rodriguez-Martín M. Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism. J Invest Dermatol. 2011;131(11):2242–2248. - PMC - PubMed
    1. Bergqvist C., Abdallah B., Hasbani D.J. CHILD syndrome: a modified pathogenesis-targeted therapeutic approach. Am J Med Genet A. 2018;176(3):733–738. - PubMed

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