Difference between revisions of "Bullous diseases"

Bullous diseases (view source)

538 bytes added , 17:40, 9 September 2011

48,699

edits

@@ Line 74: / Line 74: @@
 *Desmoglein 1, desmoglein 3 - abnormal.
-==Hailey-Hailey disease==
+==Familial benign pemphigus==
-*[[AKA]] familial benign chronic pemphigus.
+*AKA ''Hailey-Hailey disease''. Was described by two brothers - that's why it is ''Hailey-Hailey''.<ref name=emed_hailey>URL: [http://emedicine.medscape.com/article/1063224-overview http://emedicine.medscape.com/article/1063224-overview]. Accessed on: 9 September 2011.</ref>
 ===General===
-*Familial.
+*Genetic - autosomal dominant with incomplete penetration.<ref name=emed_hailey/>
+**Desmosomal defect - due to mutation in the gene ''ATP2C1''.<ref name=emed_hailey/>
-Trivia:
+Clinical:
-*Described by a pair of brothers.
+*Chest.
+*Intertriginous regions. (???)
+*Typically presents individual in their 30s and 40s.<ref name=emed_hailey/>
 ===Microscopic===
 Features:
 *Suprabasilar blistering.
+*Acanthosis (thick epidermis).
+Notes:
+*Hair folicles spared.
 DDx: