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Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease
Marimar Sáez-de-Ocariz1, Ana Sylvia Aguilar-Sarmiento2, Maria Adelaida Garcés-Abad3
1Dermatology Department, Instituto Nacional de Pediatría, Mexico City, Mexico.
Abstract:
Menkes disease (MD) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the ATP7A gene, with a high mortality rate within the first 3 years of life. It typically affects males and is characterized by impaired copper distribution and malfunction of several copper-dependent enzymes. Patients develop progressive muscle hypotonia associated with neurological damage and hair shaft dysplasia - particularly pili torti. Pili torti is usually very subtle in the first 3 months of life and gradually increases during the first year. Light microscopy examination in search for pili torti requires the observation of more than 50 hair shafts. In contrast, trichoscopy with a hand-held dermatoscope allows to easily identify the hair shaft defect. We report a case of a Hispanic male infant with MD in whom we show that trichoscopy is superior to hair light microscopy in revealing pili torti.
Insights
Menkes disease (MD) diagnosis is aided by trichoscopy, a superior method for detecting pili torti (hair shaft defects). This technique offers earlier and clearer identification of this subtle symptom in infants with MD.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Menkes disease (MD) is a rare, fatal X-linked recessive neurodegenerative disorder.
- Caused by ATP7A gene mutations, it impairs copper distribution and enzyme function.
- Key features include hypotonia, neurological damage, and characteristic hair shaft dysplasia (pili torti).
Observation:
- Pili torti in MD infants is subtle initially, becoming more apparent over the first year.
- Traditional light microscopy requires examining over 50 hair shafts for diagnosis.
- Trichoscopy, using a dermatoscope, offers a more accessible and rapid method for identifying hair shaft abnormalities.
Findings:
- This case study highlights trichoscopy's superiority over light microscopy in diagnosing MD.
- Trichoscopy effectively revealed pili torti in a Hispanic male infant with Menkes disease.
- The hair shaft defect was more readily identifiable with dermoscopy.
Implications:
- Trichoscopy can significantly improve early diagnosis of Menkes disease.
- Earlier diagnosis facilitates timely intervention and management strategies.
- This diagnostic approach may reduce diagnostic delays and improve patient outcomes.
