Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: A new syndrome - 21/08/11
, Maria Rita Nasca, MD, PhD a, Daniele Innocenzi, MD b, Lucretia A. Frasin, MD a, Orietta Radi, MD c, Pietro Parma, MD c, Giovanna Camerino, MD c, Robert A. Schwartz, MD, MPH d
Correspondence to: Giuseppe Micali, MD, Professor & Head, Dermatology Clinic, University of Catania, Piazza S. Agata La Vetere 6, 95124 Catania, Italy.Catania, Rome, and Pavia, Italy; and Newark, New Jersey
Abstract |
The association of palmoplantar keratoderma (PPK) with the development of cutaneous squamous cell carcinomas (SCCs), dental anomalies, severe hypogenitalism with hypospadias, abnormal development of gonads with ambiguous external genitalia, gynecomastia, altered plasma sex hormones levels, and hypertriglyceridemia has not, to our knowledge, been reported previously. We describe it in 4 brothers with 46,XX karyotype, whereas the 5 sisters of their consanguineous parents were unaffected. This family may represent a new syndrome. The PPK was of the classical nonepidermolytic histologic type. The proband also had a laryngeal carcinoma diagnosed in his early forties and nodular testicular hyperplasia of Leydig cells.
Le texte complet de cet article est disponible en PDF.Plan
| Supported by Stiefel Laboratories. Supported by Telethon Grant B:38, by the European Community EUROP- BMH4 CT 969790 contract and by the “Progetto Genomica Funzionale” of the Italian MURST (to G. C.) Conflicts of interest: None identified. Poster presented at the 56th Annual Meeting of the American Academy of Dermatology, Orlando, Florida, Feb 27-March 4, 1998. Reprints not available from the authors. |
Vol 53 - N° 5S
P. S234-S239 - novembre 2005 Retour au numéro
Article précédent
- Clomipramine-induced hypersensitivity syndrome with unusual clinical features
- Youichi Nishimura, Akihiko Kitoh, Yoko Yoshida, Toshihiro Tanaka
- Pityriasis rosea–like eruption during treatment with imatinib mesylate: Description of 3 cases
- Valeria Brazzelli, Francesca Prestinari, Elena Roveda, Tania Barbagallo, Eleonora Bellani, Camilla Vassallo, Ester Orlandi, Francesco Passamonti, Giovanni Borroni
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?