title: CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.
abstract: 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.
authors.affiliation: Clinical Unit, Instituto da Criança, USP São Paulo, São Paulo, Brazil.
authors.forename: C A
authors.initials: CA
authors.lastname: Kim
authors.forename: A
authors.initials: A
authors.lastname: Konig
authors.forename: D R
authors.initials: DR
authors.lastname: Bertola
authors.forename: L M J
authors.initials: LM
authors.lastname: Albano
authors.forename: G J F
authors.initials: GJ
authors.lastname: Gattás
authors.forename: D
authors.initials: D
authors.lastname: Bornholdt
authors.forename: L
authors.initials: L
authors.lastname: Leveleki
authors.forename: R
authors.initials: R
authors.lastname: Happle
authors.forename: K-H
authors.initials: KH
authors.lastname: Grzeschik
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D013577:Syndrome
chemical_list: D015096:3-Hydroxysteroid Dehydrogenases; D006913:Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human