Gantner, Susanne and Ruetten, Arno and Requena, Luis and Gassenmaier, Gerhard and Landthaler, Michael and Hafner, Christian (2014) CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis. JOURNAL OF CUTANEOUS PATHOLOGY, 41 (10). pp. 787-790. ISSN 0303-6987, 1600-0560
Full text not available from this repository. (Request a copy)Abstract
CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woman presented with chronic verrucous and hyperkeratotic skin lesions involving the left genital area, left hand and left foot since childhood. The histopathologic findings were consistent with verruciform xanthoma. In correlation with the clinical picture of a linear lesion, the diagnosis of CHILD nevus was made. Subsequent genetic analysis identified a germline c. 324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome. This syndrome can be associated with only minimal clinical symptoms. The anatomical distribution of the lesions, a static clinical course and the typical histopathologic features of a CHILD nevus can serve as the clue to a diagnosis of CHILD syndrome in such cases.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | NSDHL GENE; DISORDER; MUTATION; NEVUS; CHILD nevus; CHILD syndrome; epidermal nevus; NSDHL mutation; verruciform xanthoma |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Dermatologie und Venerologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 12 Aug 2019 09:09 |
| Last Modified: | 12 Aug 2019 09:09 |
| URI: | https://pred.uni-regensburg.de/id/eprint/9398 |
Actions (login required)
 |
View Item |
