The X-linked dominant CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) is a rare developmental defect characterized by a strictly lateralized inflammatory nevus. In the majority of cases, the right side of the body is affected. Ipsilateral hypoplastic lesions may involve the brain, skeletal structures, lungs, heart or kidneys. We describe a case of CHILD syndrome involving the left side of the body. Absence of metacarpal, metatarsal and phalangeal bones of the left hand and foot resulted in oligodactyly, with only 3 fingers and 1 toe. An ipsilateral inflammatory epidermal nevus with hyperkeratosis, parakeratosis, acanthosis and perivascular lymphohistiocytic infiltrate was strictly confined to the left half of the patient’s body. The phenotype was shown to be associated with a deletion of exons 6–8 of the X-linked NSDHL gene, confirming that CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis.

Keywords:
CHILD syndrome, NSDHL deletion, Mutation analysis, Left side hemidysplasia
1.
Happle R, Koch H, Lenz W: The CHILD syndrome: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 1980;134:27–33.
2.
König A, Happle R, Bornholdt D, Engel H, Grzeschik KH: Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 2000;90:339–346.
3.
König A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH: A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J Am Acad Dermatol 2002;46:594–596.
4.
Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE: Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. Am J Med Genet 2003;122A:246–251.
5.
Murata K, Shinkai H, Ishikiriyama S, Yamazaki M, Fukuzumi Y, Hatamochi A: A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome. J Dermatol Sci 2003;33:67–69.
6.
Kaminska G, Brzezinska-Wcislo L, Jezela-Stanek A, Krajewska-Walasek M, Kelley R: CHILD syndrome – Clinical picture, diagnostic procedures and treatment. J Eur Acad Dermatol Venerol 2003;17:276.
7.
Liu XY, Dangel AW, Kelley RI, Zhao W, Denny P, Botcherby M, Cattanach B, Peters J, Hunsicker PR, Mallon AM, Strivens MA, Bate R, Miller W, Rhodes M, Brown SD, Herman GE: The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Nat Genet 1999;22:182–187.
8.
Ohashi M, Mizushima N, Kabeya Y, Yoshimori T: Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets. J Biol Chem 2003;278:36819–36829.
9.
Caldas H, Herman GE: NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. Hum Mol Genet 2003;12:2981–2991.
10.
Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D: Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nat Genet 1999;22:291–294.
11.
Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE: Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 1999;22:286–290.
12.
Armour JA, Sismani C, Patsalis PC, Cross G: Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 2000;28:605–609.
13.
Happle R, König A, Grzeschik KH: Behold the CHILD, it’s only one: CHILD syndrome is not caused by deficiency of 3beta-hydroxysteroid-delta 8,delta 7-isomerase. Am J Med Genet 2000;94:341–343.
14.
Herman GE: Disorders of cholesterol biosynthesis: Prototypic metabolic malformation syndromes. Hum Mol Genet 2003;12:R75–R88.
15.
Happle R: X-linked dominant chondrodysplasia punctata: Review of the literature and report of a case. Hum Genet 1979;53:65–73.
16.
Happle R, Mittag H, Küster W: The CHILD nevus: A distinct skin disorder. Dermatology 1995;191:210–216.
17.
Grzeschik KH: Human limb malformations: An approach to the molecular basis of development. Int J Dev Biol 2002;46:983–991.
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2005
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