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Congenital Ichthyosis and Hyperlipidemia

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Challenging Cases in Dermatology Volume 2

Abstract

A child presented with generalized ichthyosis, delayed motor and mental milestones, abdominal distension, myopia, sensorineural hearing loss and recurrent attacks of myalgia. He also had hypertriglyceridemia and elevated liver enzymes. His brother was similarly affected, and both had a history of erythroderma at birth. Findings of the blood film exposed the definite diagnosis.

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Bibliography

  1. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Derm. 1974;110:261–6.

    Article  CAS  Google Scholar 

  2. Dursun A, Kubar A, Gokoz A, Duru F, Gurgey A. Neutral lipid storage disease co-existing with ichthyosiform dermatosis. Eur J Pediatr. 1994;153:210–1.

    Article  CAS  Google Scholar 

  3. El-Kabbany Z, Elsayed SM, Rashad M, Tareef R, Galal N. Dorfman-Chanarin syndrome in Egypt. (Letter). Am J Med Genet. 2003;121A:75–8. Note: Erratum: Am J Med Genet. 123A: 209 only, 2003.

    Article  Google Scholar 

  4. Gurakan F, Kaymaz G, Kocak N, Ors U, Yuce A, Atakan N. A cause of fatty liver: neutral lipid storage disease with ıchthyosis: electron microscopic findings. Dig Dis Sci. 1999;44:2214–7.

    Article  CAS  Google Scholar 

  5. Kakourou T, Drogari E, Christomanou H, Giannoulia A, Dacou-Voutetakis C. Neutral lipid storage disease – response to dietary intervention. Arch Dis Child. 1997;77:184.

    Article  CAS  Google Scholar 

  6. Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/ thioesterase subfamily in Chanarin Dorfman syndrome. Am J Hum Genet. 2001;69:1002–12.

    Article  CAS  Google Scholar 

  7. Mela D, Artom A, Goretti R, Varagona G, Riolfo M, Ardoino S, Sanguineti G, Vitali A, Ricciardi S. Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement. J Hepatol. 1996;25:769–71.

    Article  CAS  Google Scholar 

  8. Methre ST, Godbole RR, Nayar PS, Manchanda RV. Dorfman–Chanarin syndrome: a case report. Indian J Hematol Blood Transfus. 2012;28:50–3.

    Article  Google Scholar 

  9. Pahwa M, Kar R, Singh A, Goel A, Ramesh V, Jain R. Chanarin–Dorfman syndrome with eccrine gland vacuolation: a case report. Int J Dermatol. 2008;47:1257–9.

    Article  Google Scholar 

  10. Pena-Penabad C, Almagro M, Martinez W, Garcia-Silva J, Del Pozo J, Yebra MT, Sanchez-Manzano C, Fonseca E. Dorfman- Chanarin syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol. 2001;144:430–2.

    Article  CAS  Google Scholar 

  11. Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, Gonzalez-Ensenat MA, Fischer J, Azon A. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. Br J Dermatol. 2005;153:838–41.

    Article  CAS  Google Scholar 

  12. Redaelli, et al. Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet J Rare Dis. 2010;5(1):33.

    Article  Google Scholar 

  13. Selimoglu MA, Esrefoglu M, Gul M, Gungor S, Yildirim C, Seyhan M. Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder. Pediatr Dermatol. 2009;26:40–3.

    Article  Google Scholar 

  14. Wollenberg A, Geiger E, Schaller M, Wolff H. Dorfman- Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils. Acta Derm Venereo. 2000;80:39–43.

    Article  CAS  Google Scholar 

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El-Darouti, M.A., Al-Ali, F.M. (2019). Congenital Ichthyosis and Hyperlipidemia. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_55

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  • DOI: https://doi.org/10.1007/978-3-030-21855-3_55

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-21854-6

  • Online ISBN: 978-3-030-21855-3

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