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Quoted phrase not found in phrase index: "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"
Page 1
Cutaneous paraneoplasia.
Ramos-E-Silva M, Carvalho JC, Carneiro SC. Ramos-E-Silva M, et al. Clin Dermatol. 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. Clin Dermatol. 2011. PMID: 21855730
Although relatively rare, they need to be recognized by dermatologists to make an early diagnosis and improve the prognosis related especially to the neoplasia. This contribution presents the morphologic aspects and the differential diagnosis of the main paraneoplasias, wh …
Although relatively rare, they need to be recognized by dermatologists to make an early diagnosis and improve the prognosis related e …
Naxos disease.
Adhisivam B, Mahadevan S. Adhisivam B, et al. Indian J Pediatr. 2006 Apr;73(4):359-60. doi: 10.1007/BF02825834. Indian J Pediatr. 2006. PMID: 16816500
Naxos disease (OMIM 601214) characterized by wooly hair, palmoplantar keratoderma and dilated cardiomyopathy in two Indian children of the same family is described....
Naxos disease (OMIM 601214) characterized by wooly hair, palmoplantar keratoderma and dilated cardiomyopathy in two Indian children o …
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B. Loh AYT, et al. Am J Med Genet A. 2022 Jun;188(6):1752-1760. doi: 10.1002/ajmg.a.62703. Epub 2022 Feb 25. Am J Med Genet A. 2022. PMID: 35212137
Huriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and predisposition to cutaneous squamous cell carcinoma (cSCC). ...We propose adding Huriez syndrome to the …
Huriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmopl …
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P. Gruber R, et al. J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. J Invest Dermatol. 2017. PMID: 28017832 Free PMC article. Review.
In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is …
In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. B …
Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.
Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R. Caceres-Rios H, et al. Pediatr Dermatol. 1996 Mar-Apr;13(2):105-13. doi: 10.1111/j.1525-1470.1996.tb01414.x. Pediatr Dermatol. 1996. PMID: 9122065 Review.
Sixty-one patients who fulfill the criteria for this syndrome were identified in a review of the literature through December 1993. ...The KID acronym does not accurately define this entity since the disorder is not an ichthyosis, because scaling is not the main cutaneous f …
Sixty-one patients who fulfill the criteria for this syndrome were identified in a review of the literature through December 1993. .. …
SAM syndrome is characterized by extensive phenotypic heterogeneity.
Taiber S, Samuelov L, Mohamad J, Barak EC, Sarig O, Shalev SA, Lestringant G, Sprecher E. Taiber S, et al. Exp Dermatol. 2018 Jul;27(7):787-790. doi: 10.1111/exd.13551. Exp Dermatol. 2018. PMID: 29604126 Review.
The disease was initially reported to manifest with severe erythroderma, failure to thrive, atopic manifestations, recurrent infections, hypotrichosis and palmoplantar keratoderma. We present 3 new cases of SAM syndrome in 2 families and review the cases published s …
The disease was initially reported to manifest with severe erythroderma, failure to thrive, atopic manifestations, recurrent infections, hyp …
Retinoids in disorders of keratinization: their use in adults.
Happle R, van de Kerkhof PC, Traupe H. Happle R, et al. Dermatologica. 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. Dermatologica. 1987. PMID: 2961628 Review.
Good or excellent results have been seen in other forms of palmoplantar keratoderma including mal de Meleda, Papillon-Lefevre syndrome, erythrokeratodermia variabilis, verrucous epidermal nevi, Darier disease and pityriasis rubra pilaris. In patients with Darier dis …
Good or excellent results have been seen in other forms of palmoplantar keratoderma including mal de Meleda, Papillon-Lefevre synd …
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect.
Protonotarios N, Tsatsopoulou A. Protonotarios N, et al. Orphanet J Rare Dis. 2006 Mar 13;1:4. doi: 10.1186/1750-1172-1-4. Orphanet J Rare Dis. 2006. PMID: 16722579 Free PMC article. Review.
Moreover, affected families have been identified in other Aegean islands, Turkey, Israel and Saudi Arabia. A syndrome with the same cutaneous phenotype and predominantly left ventricular involvement has been described in families from India and Ecuador (Carvajal syndrom …
Moreover, affected families have been identified in other Aegean islands, Turkey, Israel and Saudi Arabia. A syndrome with the same c …
Prevalence and treatment of palmoplantar keratoderma and tinea pedis in patients with Sezary syndrome.
Martin SJ, Duvic M. Martin SJ, et al. Int J Dermatol. 2012 Oct;51(10):1195-8. doi: 10.1111/j.1365-4632.2011.05204.x. Int J Dermatol. 2012. PMID: 22994666
Sezary syndrome is characterized by blood involvement, exfoliative eryrthroderma, lymphadenopathy, pruritus, keratoderma, and immunosuppression. ...CONCLUSIONS: The prevalence of palmoplantar keratoderma in Sezary syndrome is 61.6%, with co-existing ti …
Sezary syndrome is characterized by blood involvement, exfoliative eryrthroderma, lymphadenopathy, pruritus, keratoderma, and …
Olmsted's syndrome.
Armstrong AP, Percival N. Armstrong AP, et al. J R Soc Med. 1997 Feb;90(2):81-2. doi: 10.1177/014107689709000208. J R Soc Med. 1997. PMID: 9068437 Free PMC article. No abstract available.
82 results