Skip to main content

Skin and Hair Disorders

  • Chapter
Inherited Metabolic Diseases

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 119.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Key References

  • Birch-Machin MA (2000) Mitochondria and skin disease. Clin Exp Dermatol 25:141–146

    Article  PubMed  CAS  Google Scholar 

  • Bodemer C, Rötig A, Rustin P et al (1999) Hair and skin disorders as signs of mitochondrial disease. Pediatrics 103: 428–433

    Article  PubMed  CAS  Google Scholar 

  • de Koning TJ, Klomp LW (2004) Serine-deficiency syndromes. Curr Opin Neurol 17:197–204

    Article  PubMed  Google Scholar 

  • Dionisi-Vici C, De Felice L, el Hachem M et al (1998) Intravenous immune globulin in lysinuric protein intolerance. J Inherit Metab Dis 21:95–102

    Article  PubMed  CAS  Google Scholar 

  • Dyer JA, Winters CJ, Chamlin SL (2005) Cutaneous findings in congenital disorders of glycosylation: the hanging fat sign. Pediatr Dermatol 22:457–460

    Article  PubMed  Google Scholar 

  • Goldsmith LA (2003) Xanthomatoses and lipoprotein disorders. In: Eisen AZ, Wolf K et al (eds) Fitzpartick's dermatology in general medicine, McGraw-Hill, New York

    Google Scholar 

  • Guallar JP, Vilà MR, López-Gallardo E et al (2006) Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNA(Lys) point mutations in mitochondrial DNA. Mol Genet Metab 89: 283–285

    Article  PubMed  CAS  Google Scholar 

  • Howard R, Frieden IJ, Crawford D et al (1997) Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations. Arch Dermatol 133:1563–1566

    Article  PubMed  CAS  Google Scholar 

  • Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/sites/entrez

  • Shrinath M, Walter JH, Haeney M et al (1997) Prolidase deficiency and systemic lupus erythematosus. Arch Dis Child 76:441–444

    Article  PubMed  CAS  Google Scholar 

  • Silengo M, Valenzise M, Pagliardini S. et al (2003) Hair changes in congenital disorders of glycosylation (CDG type 1). Eur J Pediatr 162:114–115

    Article  PubMed  Google Scholar 

  • Valayannopoulos V, Verhoeven NM, Mention K et al (2006) Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. J Pediatr 149: 713–717

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Carlo Dionisi-Vici .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Dionisi-Vici, C., Hachem, M.E., Bertini, E. (2010). Skin and Hair Disorders. In: Hoffmann, G.F., Zschocke, J., Nyhan, W.L. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-74723-9_23

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-74723-9_23

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-74722-2

  • Online ISBN: 978-3-540-74723-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics