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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. ...Therefore, knowledge of the mutation is the only way to properly counsel the couples. No specific …
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital …
Treatment of pachyonychia congenita.
Milstone LM, Fleckman P, Leachman SA, Leigh IM, Paller AS, van Steensel MA, Swartling C. Milstone LM, et al. J Investig Dermatol Symp Proc. 2005 Oct;10(1):18-20. doi: 10.1111/j.1087-0024.2005.10203.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250205 Free article. Review.
De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.
Ge M, Ji C, Li H, Huang H. Ge M, et al. DNA Cell Biol. 2023 Oct;42(10):645-652. doi: 10.1089/dna.2023.0154. Epub 2023 Aug 10. DNA Cell Biol. 2023. PMID: 37566479
Congenital skin disorders are a class of complex genetic diseases that are difficult to diagnose and treat. ...Following prenatal diagnosis, a healthy second baby without the mutation was born. The disease symptoms of epidermolytic palmoplantar keratoderma (EPPK) ap …
Congenital skin disorders are a class of complex genetic diseases that are difficult to diagnose and treat. ...Following prenatal dia …
Sjogren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.
Gånemo A, Jagell S, Vahlquist A. Gånemo A, et al. Acta Derm Venereol. 2009;89(1):68-73. doi: 10.2340/00015555-0561. Acta Derm Venereol. 2009. PMID: 19197545 Free article.
Sjogren-Larsson syndrome (SLS) is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation, caused by a deficiency of fatty aldehyde dehydrogenase. ...In conclusion, SLS is a chronic, severely disabling neurocutaneo …
Sjogren-Larsson syndrome (SLS) is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetraplegia and men …
Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.
Irvine AD, McLean WH. Irvine AD, et al. Br J Dermatol. 1999 May;140(5):815-28. doi: 10.1046/j.1365-2133.1999.02810.x. Br J Dermatol. 1999. PMID: 10354017 Review.
At the time of writing, mutations in 15 epithelial keratins and two trichocyte keratins have been associated with human diseases which include EBS, bullous congenital ichthyosiform erythroderma, epidermolytic palmoplantar keratoderma, ichthyosis bullosa of Siemens, …
At the time of writing, mutations in 15 epithelial keratins and two trichocyte keratins have been associated with human diseases which inclu …
Acitretin in the treatment of severe disorders of keratinization. Results of an open study.
Blanchet-Bardon C, Nazzaro V, Rognin C, Geiger JM, Puissant A. Blanchet-Bardon C, et al. J Am Acad Dermatol. 1991 Jun;24(6 Pt 1):982-6. doi: 10.1016/0190-9622(91)70158-x. J Am Acad Dermatol. 1991. PMID: 1831211
Thirty-three patients (21 adults and 12 children or adolescents) with ichthyoses, palmoplantar hyperkeratosis, or Darier's disease were treated for a period of 4 months. Most patients showed marked improvement or remission. The results obtained in congenital …
Thirty-three patients (21 adults and 12 children or adolescents) with ichthyoses, palmoplantar hyperkeratosis, or Darier's dis …