Open AccessUsefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease
Author(s) -
Marimar SáezdeOcariz,
Ana Sylvia Aguilar-Sarmiento,
Maria Adelaida Garcés-Abad,
Paulina Vázquez-Arroyo,
Maria Teresa GarcíaRomero,
Carola DuránMcKinster
Publication year - 2021
Publication title -
skin appendage disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.773
H-Index - 13
eISSN - 2296-9195
pISSN - 2296-9160
DOI - 10.1159/000518368
Subject(s) - hair disease , microscopy , menkes disease , dermatology , pathology , medicine , materials science , copper metabolism , copper , metallurgy
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.