CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL GeneKim C.A. · König A. · Bertola D.R. · Albano L.M.J. · Gattás G.J.F. · Bornholdt D. · Leveleki L. · Happle R. · Grzeschik K.-H.
aClinical Unit, Instituto da Criança, USP São Paulo, São Paulo, Brazil; Departments of bDermatology and cHuman Genetics, Philipp University, Marburg, Germany
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.
Dr. Karl-Heinz Grzeschik
Department of Human Genetics, Philipp University
DE–35037 Marburg (Germany)
Tel. +49 6421 286 6233, Fax +49 6421 286 8920, E-Mail firstname.lastname@example.org
Received: August 5, 2004
Accepted: November 12, 2004
Number of Print Pages : 4
Number of Figures : 3, Number of Tables : 0, Number of References : 17
Vol. 211, No. 2, Year 2005 (Cover Date: 2005)
Journal Editor: Saurat, J.-H. (Geneva)
ISSN: 1018–8665 (print), 1421–9832 (Online)
For additional information: http://www.karger.com/drm