Abstract
Rud syndrome is a rare genodermatosis consisting of lamellar ichthyosis, dwarfism, oligophrenia and hypogonadism. In the majority of cases, it coexists with epilepsy, retinitis pigmentosa, short stature or growth delay. Only nine published cases have completely fulfilled the criteria for Rud syndrome since its initial description in 1927. The skin symptoms vary from simple dryness to severe ichthyosis. Another related syndrome of ichthyosis follicularis, alopecia and photophobia (IFAP) has been identified. Rud syndrome has no male predilection as one would expect for an X-linked recessive disorder, which attests to its heterogeneity. Molecular analysis is essential for prenatal diagnostics and proper genetic counselling. A multidisciplinary team is required to address the various clinical symptoms.
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References
Rud E. Et Tilfaelde af Infantilisme med tetani, Epilepsie, polyneuritis, ichthyosis og Anaemi of pernicios type. Hospitalistidende. 1927;70:525–38.
Rud E. Et Tilfaelde af Hypogenitalisme (Eunuchoidismus feminus) med partiel Gigantisme og ichthyosis. Hospitalistidende. 1929;72:426–33.
Pavani K, Reddy BS, Singh BA. Rud’s syndrome. Indian Dermatol Online J. 2014;5:173–5.
Al Aboud K, Al AD. Einar Rud and the syndrome that bears his name. Eur J Dermatol. 2011;21:1025–6.
Ruiz-Maldonado R, Tamayo L. Classification of neuroichthyosis. Mod Probl Paediatr. 1975;17:65–70.
Munke M, Kruse K, Goos M, et al. Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature. Eur J Pediatr. 1983;141:8–13.
Keyvani K, Paulus W, Traupe H, et al. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. Am J Med Genet. 1998;78:371–7.
Kaufman LM. A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram. Ophthalmic Genet. 1998;19:69–79.
Labrisseau A, Carpenter S. Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy. Neuropediatrics. 1982;13:95–8.
Marconi S, Cantalupo G, Marliani F. Rud syndrome with focal cortical dysplasia: a case report. Brain and Development. 2011;33:683–6.
Traupe H. Ichthyoses and related keratinization disorders. Management, clinical features and genetics. Hautarzt. 2004;55:931–41.
Traupe H, Muller-Migl CR, Kolde G, et al. Ichthyosis vulgaris and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing. Clin Genet. 1984;25:42–51.
Maldonado RR, Tamayo L, Carnevale A. Neuroichthyosis with hypogonadism (Rud’s syndrome). Int J Dermatol. 1975;14:347–52.
De Laurenzi V, Rogers GR, Hamrock D, et al. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet. 1996;12:52–7.
Magarbane H, Magarbane A. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. Orphanet J Rare Dis. 2011;6:29.
Traupe H, Fischer J. Nonsyndromic types of ichthyoses - an update. J Dtsch Dermatol Ges. 2013;12:109–21.
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Panteliadis, C.P. (2022). Rud Syndrome. In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_38
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DOI: https://doi.org/10.1007/978-3-030-87893-1_38
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