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32 results

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Page 1
Inherited ichthyosis: Syndromic forms.
Yoneda K. Yoneda K. J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. J Dermatol. 2016. PMID: 26945533 Review.
Although these syndromes are very rare, Netherton syndrome, Sjogren-Larsson syndrome, Conradi-Hunermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as …
Although these syndromes are very rare, Netherton syndrome, Sjogren-Larsson syndrome, Conradi-Hunermann-Happle syndrome, Dorfman-Chanarin sy …
Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum.
Irurzun I, Natale MI, Agostinelli ML, Lamberti M, Montero D, Granda C, Mássimo JA, Manzur GB, Valinotto LE. Irurzun I, et al. Pediatr Dermatol. 2021 May;38(3):568-574. doi: 10.1111/pde.14560. Epub 2021 Mar 19. Pediatr Dermatol. 2021. PMID: 33742461 Review.
Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2). Clinical presentation includes ichthyosis …
Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic varian …
Genetics of Inherited Ichthyoses and Related Diseases.
Fischer J, Bourrat E. Fischer J, et al. Acta Derm Venereol. 2020 Mar 25;100(7):adv00096. doi: 10.2340/00015555-3432. Acta Derm Venereol. 2020. PMID: 32147747 Free PMC article. Review.
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
Rasheed M, Shahzad S, Zaeem A, Afzal I, Gul A, Khalid S. Rasheed M, et al. Arch Dermatol Res. 2017 Dec;309(10):773-785. doi: 10.1007/s00403-017-1780-x. Epub 2017 Sep 14. Arch Dermatol Res. 2017. PMID: 28913623 Review.
Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. …
Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypot …
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA. Keyvani K, et al. Am J Med Genet. 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. Am J Med Genet. 1998. PMID: 9714442 Review.
The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 males so far. ...
The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 …
Ichthyosis follicularis: a case report and review of the literature.
Alfadley A, Al Hawsawi K, Al Aboud K. Alfadley A, et al. Pediatr Dermatol. 2003 Jan-Feb;20(1):48-51. doi: 10.1046/j.1525-1470.2003.03011.x. Pediatr Dermatol. 2003. PMID: 12558847 Review.
Ichthyosis follicularis (IF) is a very rare neurocutaneous, X-linked recessive condition affecting the skin, hair, eyes, and central nervous system (CNS). ...
Ichthyosis follicularis (IF) is a very rare neurocutaneous, X-linked recessive condition affecting the skin, hair, eyes, and c …
Limbal Stem Cell Dysfunction in Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome.
Basilious A, Fung SSM, Ali A. Basilious A, et al. Cornea. 2020 Oct;39(10):1321-1324. doi: 10.1097/ICO.0000000000002393. Cornea. 2020. PMID: 32482964
PURPOSE: To describe the presentation and management of limbal stem cell dysfunction in ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. ...
PURPOSE: To describe the presentation and management of limbal stem cell dysfunction in ichthyosis follicularis, alopecia, and …
MBTPS2 mutation causes BRESEK/BRESHECK syndrome.
Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N. Naiki M, et al. Am J Med Genet A. 2012 Jan;158A(1):97-102. doi: 10.1002/ajmg.a.34373. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105905
Since all patients with BRESEK/BRESHECK syndrome are male, and X-linked syndrome of ichthyosis follicularis with atrichia and photophobia is sometimes associated with several features of BRESEK/BRESHECK syndrome such as intellectual disability, vertebral and renal a …
Since all patients with BRESEK/BRESHECK syndrome are male, and X-linked syndrome of ichthyosis follicularis with atrichia and …
Ichthyosis follicularis with alopecia and photophobia.
Eramo LR, Esterly NB, Zieserl EJ, Stock EL, Herrmann J. Eramo LR, et al. Arch Dermatol. 1985 Sep;121(9):1167-74. Arch Dermatol. 1985. PMID: 4037843
We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory spiny follicular hyperkeratoses, severe photophobia, and generalized noncicatricial alopecia. This disorder must be differentiated from kerato …
We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory sp …
32 results