ArticleAnais brasileiros de dermatologia
Pili canaliculi as manifestation of giant axonal neuropathy.
Article in Anais brasileiros de dermatologia. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.Neurogenetics · 2024Article
- Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.Molecular genetics & genomic medicine · 2023Review
- Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.Brain : a journal of neurology · 2021Article
- Scanning electron microscopy of ibrutinib-induced hair shaft changes.Anais brasileiros de dermatologiaArticle
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5 authors.
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Abstract
Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.
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