Pachyonychia Congenita

Overview

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Is a:

Disease or Syndrome
Congenital Abnormality

Definition:

A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in pachyonychia. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode keratins. A subtype of pachyonychia congenita that is associated with mutations in the gene for keratin-17 and the gene for keratin-6b. A subtype of pachyonychia congenita that is associated with mutations in the gene for keratin-16 and the gene for keratin-6a.

Synonyms:

Congenita, Pachyonychia
Jackson Lawler Type Pachyonychia Congenita
Jackson-Lawler Type Pachyonychia Congenita
Jadassohn Lewandowsky Syndrome
Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita Tarda, Type 1
Pachyonychia Congenita, Jackson Lawler Type
Pachyonychia Congenita, Jackson-Lawler Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn-Lewandowsky Type
Pachyonychia Congenita, Type 1
Pachyonychia Congenita, Type 2
Type 1 Pachyonychia Congenita
Type 2 Pachyonychia Congenita

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