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Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M. Takeichi T, et al. J Dermatol. 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. J Dermatol. 2016. PMID: 26945532 Review.
These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. ...Non-syndromic ichthyoses include ichthyosis …
These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non- …
Ichthyosis with confetti: clinics, molecular genetics and management.
Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G. Guerra L, et al. Orphanet J Rare Dis. 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. Orphanet J Rare Dis. 2015. PMID: 26381864 Free PMC article. Review.
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. ...Differential diagnosis also includes syndromic ichthyoses, in p …
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata …
Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
Lambert WC, Gagna CE, Lambert MW. Lambert WC, et al. Adv Exp Med Biol. 2010;685:106-10. doi: 10.1007/978-1-4419-6448-9_10. Adv Exp Med Biol. 2010. PMID: 20687499 Review.
Ichthyosis is usually apparent at birth but much less so after the first few weeks of life. ...Photosensitive cases are also identified as PIBIDS (photosensitivity with IBIDS). Cases without manifest ichthyosis are also identified as PBIDS. These syndromes de …
Ichthyosis is usually apparent at birth but much less so after the first few weeks of life. ...Photosensitive cases are also identifi …
Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review.
Roa-Bautista A, Sohail M, Wakeling E, Gilmour KC, Davis M, Gait A, Lucchini G, Cox D, Elfeky R, Kusters M. Roa-Bautista A, et al. Front Immunol. 2023 Jun 12;14:1186575. doi: 10.3389/fimmu.2023.1186575. eCollection 2023. Front Immunol. 2023. PMID: 37377976 Free PMC article. Review.
BACKGROUND: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is associated with biallelic variants in SGPL1, comprising a multisystemic disease characterized by steroid resistant nephrotic syndrome, primary adrenal insufficiency, neurological proble …
BACKGROUND: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is associated with biallelic variants in SGPL1, compris …