Ichthyosis

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Brown, S. J. et al. Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. Br. J. Dermatol. 161, 884 (2009).

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Afzal, S. et al. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients. BMC Med. Genet. 21, 20 (2020).

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Hernández-Martín, A. et al. Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. J. Am. Acad. Dermatol. 67, 240–244 (2012).

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Dreyfus, I. et al. Prevalence of inherited ichthyosis in France: a study using capture-recapture method. Orphanet J. Rare Dis. 9, 1 (2014). This paper presents an in-depth epidemiological study on the rare forms of ichthyosis.

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Kurosawa, M. et al. Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan. J. Am. Acad. Dermatol. 81, 1086–1092.e1 (2019).

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Israeli, S. et al. Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome. Dermatology 228, 183–188 (2014).

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Kamalpour, L. et al. Resource utilization and quality of life associated with congenital ichthyoses. Pediatr. Dermatol. 28, 512–518 (2011).

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Murase, C. et al. Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: syndromic forms and quality-of-life analysis in a subgroup. J. Dermatol. Sci. 92, 127–133 (2018).

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Hellström Pigg, M. et al. Spectrum of autosomal recessive congenital ichthyosis in scandinavia: clinical characteristics and novel and recurrent mutations in 132 patients. Acta Derm. Venereol. 96, 932–937 (2016).

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Park, J. S. et al. Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug-induced associations. J. Eur. Acad. Dermatol. Venereol. https://doi.org/10.1111/JDV.18608 (2022).

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Pavlović, M. D. et al. The prevalence of cutaneous manifestations in young patients with type 1 diabetes. Diabetes Care 30, 1964–1967 (2007).

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Okajima, R., Oliveira, A. C., Smid, J., Casseb, J. & Sanches, J. A. High prevalence of skin disorders among HTLV-1 infected individuals independent of clinical status. PLoS Negl. Trop. Dis. 7, e2546 (2013).

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Moore, R. L. & Devere, T. S. Epidermal manifestations of internal malignancy. Dermatol. Clin. 26, 17–29 (2008).

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