A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement

König, Arne, Happle, Rudolf, Fink-Puches, Regina, Soyer, Hans Peter, Bornholdt, Dorothea, Engel, Hartmut and Grzeschik, Karl-Heinz (2002) A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. Journal of the American Academy of Dermatology, 46 4: 594-596. doi:10.1067/mjd.2002.113680


Author König, Arne
Happle, Rudolf
Fink-Puches, Regina
Soyer, Hans Peter
Bornholdt, Dorothea
Engel, Hartmut
Grzeschik, Karl-Heinz
Title A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement
Journal name Journal of the American Academy of Dermatology   Check publisher's open access policy
ISSN 0190-9622
Publication date 2002-04-01
Year available 2002
Sub-type Article (original research)
DOI 10.1067/mjd.2002.113680
Open Access Status
Volume 46
Issue 4
Start page 594
End page 596
Total pages 3
Place of publication New York
Publisher Elsevier
Language eng
Subject 110304 Dermatology
Abstract The CHILD syndrome (MIM 308050), an acronym for congenital hemidysplasia with ichthyosiform nevus and limb defects, is an X-linked dominant trait with lethality for male embryos. Recently, we elucidated the underlying gene defect by demonstrating point mutations in NSDHL (NAD[P]H steroid dehydrogenase-like protein) at Xq28 in 6 patients with classic CHILD syndrome. The most striking clinical feature is an inflammatory nevus that usually shows a unique lateralization with strict midline demarcation. Ipsilateral defects involve all skeletal structures and internal organs such as the brain, the lung, the heart, or the kidney. As an exception to this rule, in some cases the CHILD nevus may occur in a more or less bilateral distribution. In 1997 Fink-Puches et al described a case of CHILD nevus with an almost symmetric arrangement. To test the correctness of the diagnosis, we now examined blood lymphocytes of this patient by single-strand conformation analysis and genomic sequencing. We identified a novel missense mutation in NSDHL that potentially may impair protein function. We conclude that a diagnosis of CHILD syndrome can be based on clinical features such as the highly characteristic morphology of the CHILD nevus. A symmetric distribution of this nevus can exceptionally be seen in patients with CHILD syndrome, and this bilateral involvement should not mislead the clinician to any other diagnosis. Apparently, the effect of random X-inactivation is responsible for different patterns of cutaneous involvement in female carriers of NSDHL mutations. (J Am Acad Dermatol 2002;46:594-6.)
Keyword Dermatology
Dermatology
DERMATOLOGY
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
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