Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome

Author(s):  
Eran Cohen‐Barak ◽  
Bannan Mwassi ◽  
Fadia Zagairy ◽  
Nada Danial‐Farran ◽  
Morad Khayat ◽  
...  
1971 ◽  
Vol 104 (4) ◽  
pp. 385-389 ◽  
Author(s):  
J. Altman
Keyword(s):  

1978 ◽  
Vol 114 (3) ◽  
pp. 436-438 ◽  
Author(s):  
S. J. Hodge
Keyword(s):  

1976 ◽  
Vol 112 (10) ◽  
pp. 1424-1426 ◽  
Author(s):  
R. L. Dimond
Keyword(s):  

2004 ◽  
pp. 88-104 ◽  
Author(s):  
Jeffrey L. Sugarman ◽  
Ilona J. Frieden
Keyword(s):  

2021 ◽  
pp. 195-201
Author(s):  
Emily Sideris ◽  
Er Tsing Vivian Tng ◽  
Paul Chee

We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations, lymphatic malformations, regional overgrowth syndromes, and RASopathies is discussed.


Author(s):  
ÖMER FARUK ELMAS ◽  
NECMETTİN AKDENİZ

Background and Aim: Verrucous epidermal nevi are cutaneous hamartomas having many clinical variants. Dermoscopic features of verrucous epidermal nevus have rarely been investigated. We aimed to identify dermoscopic findings of the entity which will facilitate the diagnostic process by reducing the use of invasive diagnostic methods. Material and Methods: The study included the patients with histopathologically approved verrucous epidermal nevus. Clinical, dermoscopic and histopathological features of the patients were retrospectively reviewed and the findings identified were recorded. Dermoscopic examination was performed with a polarized-light handheld dermoscope with 10-fold magnification. Results: The most common dermoscopic features were thick brown circles, thick brown branched lines and terminal hairs. The most common vessel pattern was dotted vessels. Branched thick brown lines, brown globules, brown dots forming lines, serpiginous brown dots, white and brown exophytic papillary structures, fine scale, thick adherent scale and cerebriform structures were the other findings. Conclusion: We observed many vascular and non-vascular dermoscopic findings which have not been described previously for the entity. Dermoscopic examination of the verrucous epidermal nevi may lead more reliable clinical interpretation and thus it may reduce the need for histopathological investigation. Keywords: dermoscopy, large brown circles, verrucous epidermal nevus


2001 ◽  
Vol 138 (4) ◽  
pp. 602-604 ◽  
Author(s):  
Sultan Al-Enezi ◽  
Adam M. Huber ◽  
Bernice R. Krafchik ◽  
Ronald M. Laxer

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