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Trichothiodystrophy

To identify the key insights or developments described in this article
1 Credit CME

A male infant with intrauterine growth restriction presented for evaluation after birth at 31 weeks of gestation. Examination revealed erythematous skin that was covered with a subtle parchment-like coating without ectropion or eclabium. His hairs were frizzy, coarse, and fragile, and his nails were normal (Figure, A). The patient also had low-set ears, blepharophimosis, osteopenia, and 3 uncomplicated superficial infantile hemangiomas.

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Article Information

Corresponding Author: Laurence Garon, MD, Medicine (Dermatology), Centre Hospitalier Universitaire Sainte-Justine, 3175, chemin de la Côte-Sainte-Catherine, Montreal, QC H3T 1C5, Canada (laurence.garon@umontreal.ca).

Published Online: June 21, 2023. doi:10.1001/jamadermatol.2023.0913

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient’s mother for granting permission to publish this information.

References
1.
Hashimoto  S , Egly  JM .  Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.   Hum Mol Genet. 2009;18(R2):R224-R230. doi:10.1093/hmg/ddp390PubMedGoogle ScholarCrossref
2.
Faghri  S , Tamura  D , Kraemer  KH , Digiovanna  JJ .  Trichothiodystrophy: a systematic review of 112 published cases characterizes a wide spectrum of clinical manifestations.   J Med Genet. 2008;45(10):609-621. Published online June 25, 2008. doi:10.1136/jmg.2008.058743PubMedGoogle ScholarCrossref
3.
Itin  PH , Sarasin  A , Pittelkow  MR .  Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.   J Am Acad Dermatol. 2001;44(6):891-920. doi:10.1067/mjd.2001.114294PubMedGoogle ScholarCrossref
4.
Gruber  R , Zschocke  A , Zellner  H , Schmuth  M .  Successful treatment of trichothiodystrophy with dupilumab.   Clin Exp Dermatol. 2021;46(7):1381-1383. Published online May 6, 2021. doi:10.1111/ced.14642PubMedGoogle ScholarCrossref
AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
  • 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
  • 1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
  • 1.00 credit toward the CME of the American Board of Surgery’s Continuous Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.

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