Emergence of kinky hair in Menkes disease

Desenvolvimento de kinky hair na doença de Menkes

A three-month-old male presented with developmental delay, rib fractures, and seizures. He had normal-looking hair.¹ A magnetic resonance imaging (MRI) scan of the brain was normal. Pathogenic ATP7A mutation was identified, which confirmed Menkes Disease. Only at 9 months of age did he develop patches of kinky hair.

Parenteral copper histidine supplementation can modify Menkes disease progression if initiated within days after birth.²,³ The clinical diagnosis relies on phenotypic presentation, especially sparse and lusterless scalp hair typically apparent by 2 to 3 months of age; however, our patient demonstrated that this feature may not appear until much later in life. Therefore, hair abnormalities should not be relied upon to initiate genetic testing (Figure 1).

Figure 1
(A) Normal hair at 3 months of age; and (B) hair strand at 9 months of age with classic pili torti seen in Menkes disease.

References

• ¹
  Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet 2010;18 (05):511-518. Doi: 10.1038/ejhg.2009.187
  » https://doi.org/10.1038/ejhg.2009.187
• ²
  Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM. A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease. Mol Genet Metab 2019;126(01):6-13. Doi: 10.1016/j.ymgme.2018.12.005
  » https://doi.org/10.1016/j.ymgme.2018.12.005
• ³
  Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 1999;41 (04):423-429. Doi: 10.1046/j.1442-200x.1999.01095.x
  » https://doi.org/10.1046/j.1442-200x.1999.01095.x

Edited by

Editor-in-Chief: Ayrton Roberto Massaro.

Associate Editor: Juliana Gurgel-Gianetti.

Publication Dates

• Publication in this collection
  07 June 2024
• Date of issue
  2024

History

• Received
  16 Jan 2024
• Accepted
  25 Feb 2024