KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.

doi:10.1038/s41431-022-01128-4

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Article

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.

European journal of human genetics : EJHG - 1 Nov 2022

Koprulu Mine, Naeem Muhammad, Nalbant Gökhan, Shabbir Rana M Kamran, Mahmood Tariq, Huma Zele, Malik Sajid, Tolun Aslıhan

Abstract excerpt

We present the first pachyonychia congenita (PC) to involve all ectodermal derivatives and the first recessive KRT17-related PC in total seven members of two consanguineous Pakistani families. This atypical PC is characterized by an unusual combination of pachyonychia, plantar keratoderma, folliculitis, alopecia, sparse eyebrows, dental anomalies and variable acanthosis nigricans of neck, dry skin, palmoplantar...

Topics

Humans
Eyebrows
Hyperhidrosis
Keratin-17
Mutation
Nails, Malformed
Pachyonychia Congenita
Steatocystoma Multiplex
Tooth Abnormalities
Pedigree

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Identifiers

PMID: 35676340
DOI: 10.1038/s41431-022-01128-4
PMCID: PMC9626541

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