Oji, V. et al. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Sorze 2009. J. Am. Acad. Dermatol. 63, 607–641 (2010). This publication delivers a general overview of the disease and the first classification of the many forms of ichthyosis, which remains the basis on which all proposed classifications are built.
Oji, V. & Traupe, H. Ichthyosis: clinical manifestations and practical treatment options. Am. J. Clin. Dermatol. 10, 351–364 (2009).
Madison, K. C. Barrier function of the skin: “La Raison d’Être” of the epidermis. J. Invest. Dermatol. 121, 231–241 (2003).
Kolarsick, P. A., Ann Kolarsick, M. & Goodwin, C. Anatomy and physiology of the skin. J. Dermatol. Nurses Assoc. 3, 203–213 (2006). This publication describes an overview of the skin structure.
Ramadon, D., McCrudden, M. T. C., Courtenay, A. J. & Donnelly, R. F. Enhancement strategies for transdermal drug delivery systems: current trends and applications. Drug Deliv. Transl Res. 12, 758 (2022).
Watt, F. M. The stem cell compartment in human interfollicular epidermis. J. Dermatol. Sci. 28, 173–180 (2002).
Fuchs, E. Epidermal differentiation and keratin gene expression. J. Cell Sci. Suppl. 17, 197–208 (1993).
Moreci, R. S. & Lechler, T. Epidermal structure and differentiation. Curr. Biol. 30, R144–R149 (2020). This paper provides an in-depth view of keratinocyte differentiation and its crucial role in epidermal formation.
Maestrini, E. et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome. Nat. Genet. 13, 70–77 (1996).
Nemes, Z. & Steinert, P. M. Bricks and mortar of the epidermal barrier. Exp. Mol. Med. 31, 5–19 (1999). This publication describes the bricks and mortar molecular model of the stratum corneum.
Patel, N., Spencer, L. A., English, J. C. & Zirwas, M. J. Acquired ichthyosis. J. Am. Acad. Dermatol. 55, 647–656 (2006).
Schmuth, M. et al. Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur. J. Hum. Genet. 21, 123–133 (2012).
Mazereeuw-Hautier, J. et al. Management of congenital ichthyoses: European guidelines of care, part one. Br. J. Dermatol. 180, 272–281 (2019).
Mazereeuw-Hautier, J. et al. Management of congenital ichthyoses: European guidelines of care, part two. Br. J. Dermatol. 180, 484–495 (2019).
Moskowitz, D. G. et al. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J. Pediatr. 145, 82–92 (2004).
DiGiovanna, J. J. & Robinson-Bostom, L. Ichthyosis: etiology, diagnosis, and management. Am. J. Clin. Dermatol. 4, 81–95 (2003).
KEI. Selected government definitions of orphan or rare diseases. KEI briefing note 2020:4 table 1: country definitions of orphan or rare diseases. KEI https://www.keionline.org/wp-content/uploads/KEI-Briefing-Note-2020-4-Defining-Rare-Diseases.pdf (2020).
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).
Amelina, S. S. et al. Prevalence of ichthyosis vulgaris and frequency of FLG R501X and 2282DEL4 mutations in the population of the Rostov region. Bull. Russ. State Med. Univ. 7, 51–55 (2018).
Ziprkowski, L. & Feinstein, A. A survey of ichthyosis vulgaris in Israel. Br. J. Dermatol. 86, 1–8 (1972).
Kono, M. et al. Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations. Allergy 69, 537–540 (2014).
Chen, H. et al. Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations. Br. J. Dermatol. 165, 106–114 (2011).
Hsu, C. K. et al. Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. Br. J. Dermatol. 161, 448–451 (2009).
Akiyama, M. FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. Br. J. Dermatol. 162, 472–477 (2010).
Wong, X. F. C. C. et al. Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants. J. Allergy Clin. Immunol. 141, 814 (2018).
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).
Craig, W. Y. et al. Prevalence of steroid sulfatase deficiency in California according to race and ethnicity. Prenat. Diagn. 30, 893–898 (2010).
Ingordo, V. et al. Frequency of X-linked ichthyosis in coastal southern Italy: a study on a representative sample of a young male population. Dermatology 207, 148–150 (2003).
Wells, R. S., Kerr, C. B. & Kerr, C. B. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br. Med. J. 1, 947 (1966).
de Unamuno, P., Martin‐Pascual, A. & Garcia‐Perez, A. X‐linked ichthyosis. Br. J. Dermatol. 97, 53–58 (1977).
Sakura, N., Nishimura, S. I., Matsumoto, T. & Ohsaki, M. Frequency of steroid sulfatase deficiency in Hiroshima. Pediatr. Int. 40, 63–64 (1998).
Milstone, L. M., Miller, K., Haberman, M. & Dickens, J. Incidence of moderate to severe ichthyosis in the United States. Arch. Dermatol. 148, 1080–1081 (2012).
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).
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.
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).
Al-Zayir, A. A. & Al-Amro Al-Alakloby, O. M. Clinico-epidemiological features of primary hereditary ichthyoses in the Eastern province of Saudi Arabia. Int. J. Dermatol. 45, 257–264 (2006).
Mohamad, J. et al. Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population. Exp. Dermatol. 30, 1290–1297 (2021).
Lima Cunha, D. et al. Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Mol. Genet. Genom. Med. 7, 539 (2019).
Hassani, B. et al. Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients. Int. J. Dermatol. 57, 1485–1491 (2018).
Koshy, R., Ranawat, A. & Scaria, V. al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations. J. Hum. Genet. 62, 889–894 (2017).
Israeli, S. et al. Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome. Dermatology 228, 183–188 (2014).
Kamalpour, L. et al. Resource utilization and quality of life associated with congenital ichthyoses. Pediatr. Dermatol. 28, 512–518 (2011).
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).
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).
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).
Goodman, D. S. et al. Prevalence of cutaneous disease in patients with acquired immunodeficiency syndrome (AIDS) or AIDS-related complex. J. Am. Acad. Dermatol. 17, 210–220 (1987).
Pavlović, M. D. et al. The prevalence of cutaneous manifestations in young patients with type 1 diabetes. Diabetes Care 30, 1964–1967 (2007).
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).
Moore, R. L. & Devere, T. S. Epidermal manifestations of internal malignancy. Dermatol. Clin. 26, 17–29 (2008).
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