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Autosomal ichthyosis syndrome with other associated signs

MedGen UID:
1842465
•Concept ID:
C5681024
•
Disease or Syndrome
Orphanet: ORPHA281244

Professional guidelines

PubMed

Ichthyosis with confetti: clinics, molecular genetics and management.
Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G
Orphanet J Rare Dis 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. PMID: 26381864Free PMC Article

Recent clinical studies

Etiology

Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
Lambert WC, Gagna CE, Lambert MW
Adv Exp Med Biol 2010;685:106-10. doi: 10.1007/978-1-4419-6448-9_10. PMID: 20687499

Diagnosis

X-linked and autosomal dominant forms of the ichthyosis in coinheritance.
Alaverdian DA, Fedyakov M, Polennikova E, Ivashchenko T, Shcherbak S, Urasov S, Tsay V, Glotov OS
Drug Metab Pers Ther 2019 Dec 18;34(4) doi: 10.1515/dmpt-2019-0008. PMID: 31967959
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Ichthyosis with confetti: clinics, molecular genetics and management.
Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G
Orphanet J Rare Dis 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. PMID: 26381864Free PMC Article
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.
Nur BG, Gencpinar P, Yuzbasıoglu A, Emre SD, Mihci E
Eur J Med Genet 2015 Apr;58(4):238-42. Epub 2015 Feb 14 doi: 10.1016/j.ejmg.2015.01.011. PMID: 25682902
Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
Lambert WC, Gagna CE, Lambert MW
Adv Exp Med Biol 2010;685:106-10. doi: 10.1007/978-1-4419-6448-9_10. PMID: 20687499

Prognosis

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.
Ilhan O, Ozer EA, Ozdemir SA, Akbay S, Memur S, Kanar B, Tatli MM
Arch Argent Pediatr 2016 Feb;114(1):e9-12. doi: 10.5546/aap.2016.eng.e9. PMID: 26914089
Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA
Br J Dermatol 2015;172(5):1407-11. Epub 2015 Mar 7 doi: 10.1111/bjd.13473. PMID: 25308318
Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M
Pediatrics 2006 Feb;117(2):e322-7. Epub 2006 Jan 3 doi: 10.1542/peds.2005-1973. PMID: 16390921

Clinical prediction guides

The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice.
Liu J, Ni W, Deng K, Chen Y, Gu G
Clin Biochem 2024 Mar;125:110735. Epub 2024 Feb 22 doi: 10.1016/j.clinbiochem.2024.110735. PMID: 38401771
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
Lazic T, Horii KA, Richard G, Wasserman DI, Antaya RJ
Pediatr Dermatol 2008 Sep-Oct;25(5):535-40. doi: 10.1111/j.1525-1470.2008.00767.x. PMID: 18950394
Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M
Pediatrics 2006 Feb;117(2):e322-7. Epub 2006 Jan 3 doi: 10.1542/peds.2005-1973. PMID: 16390921

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