Abstract
We report one patient with cardiofaciocutaneous (CFC) syndrome. He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread keratosis pilaris, a peculiar craniofacial appearance with sparse, curly hair and low-set posteriorly rotated ears; congenital heart defects; and mild mental and motor retardation. We submit a comprehensive review of previously published articles regarding the dermatological findings in CFC syndrome (recently shown to be a variant of Noonan syndrome) emphasizing diagnostic criteria and its differentiation from the Costello syndrome.
Original language | English |
---|---|
Pages (from-to) | 324-327 |
Number of pages | 4 |
Journal | Journal of the European Academy of Dermatology and Venereology |
Volume | 18 |
Issue number | 3 |
DOIs | |
State | Published - May 2004 |
Keywords
- CFC
- Cardiofaciocutaneous
- Costello
- Noonan
- Review
- Syndrome