<i>Pili Canaliculi</i>: Clinical and microscopic investigation of the first Brazilian family

Cunha, Roberto; Almeida, Hiram Larangeira de; Castro, Luis Antônio Suíta de; Rocha, Nara Moreira; Abrantes, Valter

doi:10.1111/j.1365-4632.2007.03006.x

Cited by 3 publications

(1 citation statement)

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“…One of the functions of the gigaxonin protein may be to maintain the architecture of other intermediate filaments such as keratins, which could explain one characteristic sign of the disease: the hair involvement. 5 , 6 Some studies analyzed families affected by pili canaliculi – a cutaneous genetic manifestation without neurological involvement – in which patients presented uncombable hair or gradual hypotrichosis 3 , 4 . Ultrastructural hair examination in those patients revealed grooves on hair surface giving polygonal shapes (triangular, square, reniform) to the hair shaft.…”

Section: Discussionmentioning

confidence: 99%

Pili canaliculi as manifestation of giant axonal neuropathy

Almeida

Garcias

Silva

et al. 2016

An. Bras. Dermatol.

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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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Section: Discussionmentioning

confidence: 99%