PMID: 9450882Feb 5, 1998Paper

Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis?

American Journal of Medical Genetics
G G LestringantR Happle

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
Jul 1, 1995·The Journal of Investigative Dermatology·P VabresM C Hors-Cayla

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Citations

Apr 5, 2005·Pediatric Dermatology·Mary E GarmanDenise Metry
Mar 11, 2004·Skinmed·Khalid Al HawsawiRonni Wolf
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

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