Abstract
Follicular atrophoderma is a rare anomaly observed mainly in the X-dominant form of chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome) and in the X-linked dominant Bazex syndrome. We report on five Emirati sibs (three girls and two boys), 4-18 years old, with normal stature, diffuse congenital ichthyosis, patchy follicular atrophoderma, generalized and diffuse non-scarring hypotrichosis, and marked hypohidrosis. Steroid sulfatase activity, assessed in the two boys, was found to be normal. Electron microscopic studies of ichthyotic skin did not show any specific abnormality. The association of congenital diffuse ichthyosis with follicular atrophoderma and hypotrichosis has not been reported before. The patients were reminiscent of Bazex syndrome; however, ichthyosis is not a component of Bazex syndrome. We conclude that this syndrome of congenital ichthyosis with follicular atrophoderma represents a new autosomal recessive genodermatosis.
References
Oct 1, 1978·The British Journal of Dermatology·D J Gould, D J Barker
Sep 1, 1990·International Journal of Dermatology·T J O'Brien
Feb 1, 1966·Archives of Dermatology·O J StoneC J Willis
Jan 1, 1981·Clinical and Experimental Dermatology·M PlosilaK M Niemi
Jul 1, 1995·The Journal of Investigative Dermatology·P VabresM C Hors-Cayla
Jan 1, 1996·Pediatric Dermatology·M YanagiharaM Hirose
Citations
Sep 5, 2002·The British Journal of Dermatology·U TursenN Aras
Nov 26, 2015·Journal of Dermatological Science·Iria NeriAnnalisa Patrizi
Jul 21, 2010·Journal of the American Academy of Dermatology·Vinzenz OjiHeiko Traupe
Oct 10, 2008·The Journal of Investigative Dermatology·Thomas AlefHans Christian Hennies
Apr 5, 2005·Pediatric Dermatology·Mary E GarmanDenise Metry
Mar 11, 2004·Skinmed·Khalid Al HawsawiRonni Wolf
May 1, 2008·Clinical Genetics·L AvrahamiL Basel-Vanagaite
May 4, 2010·Human Mutation·Lihadh Al-Gazali, Bassam R Ali
Apr 25, 2009·The American Journal of Pathology·Roman SzaboThomas H Bugge
Oct 14, 2014·The British Journal of Dermatology·T TakeichiJ A McGrath
Jul 24, 1998·American Journal of Medical Genetics·J Zlotogora
May 17, 2011·World Journal of Pediatrics : WJP·Antoni BennàssarRamon Grimalt
Sep 16, 2017·Archives of Dermatological Research·Madiha RasheedSumbal Khalid
Dec 7, 2017·Orphanet Journal of Rare Diseases·Leila YoussefianJouni Uitto