Skip to main content

Advertisement

SpringerLink
Log in

Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy

  • Picture of the Month
  • Published:
The Indian Journal of Pediatrics Aims and scope Submit manuscript

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. Faghri S, Tamura D, Kraemer KH, DiGiovanna JJ. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet. 2008;45:609–21.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Morice-Picard F, Cario-Andre M, Rezvani H, Lacombe D, Sarasin A, Taieb A. New clinico-genetic classification of trichothiodystrophy. Am J Med Genet A. 2009;9:2020–30.

    Article  Google Scholar 

Download references

Acknowledgments

The authors thank Prof. A Roelfs, University of Rostock, Germany for his help with molecular investigations.

Contributions

EF wrote the first draft and was responsible for handling patient’s immunological problems; NN was responsible for patient’s care at his multiple admissions at the Department of Pediatrics and critically reviewed the manuscript; FD helped with the dermatological issues and critically reviewed the manuscript; KS was responsible for patient’s care at the NICU and critically reviewed the manuscript; DIZ supervised the whole work, was responsible for patient’s rehabilitation program and critically reviewed and approved the manuscript. He will act as guarantor for the paper.

Author information

Authors and Affiliations

  1. 1st Department of Pediatrics, Hippokratio General Hospital, Aristotle University, Thessaloniki, Greece

    Evangelia Farmaki, Natalia Nedelkopoulou & Dimitrios I. Zafeiriou

  2. Department of Dermatology and Venereology, Hippokratio General Hospital, Thessaloniki, Greece

    Florentina Delli

  3. Department of Neonatology, Hippokratio General Hospital, Aristotle University, Thessaloniki, Greece

    Kosmas Sarafidis

Authors
  1. Evangelia Farmaki
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Natalia Nedelkopoulou
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Florentina Delli
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Kosmas Sarafidis
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Dimitrios I. Zafeiriou
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Dimitrios I. Zafeiriou.

Ethics declarations

Conflict of Interest

None.

Source of Funding

None.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Farmaki, E., Nedelkopoulou, N., Delli, F. et al. Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy. Indian J Pediatr 84, 89–90 (2017). https://doi.org/10.1007/s12098-016-2209-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12098-016-2209-9

Keywords

Search

Navigation