 Pachyonychia Congenita
"Pachyonychia Congenita" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D053549
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| MeSH Number(s) |
C16.131.831.350.856 C16.320.850.250.856 C17.800.529.594 C17.800.804.350.856 C17.800.827.250.856
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| Concept/Terms |
Pachyonychia Congenita- Pachyonychia Congenita
- Congenita, Pachyonychia
- Pachyonychia Congenita Syndrome
- Congenita Syndrome, Pachyonychia
- Congenita Syndromes, Pachyonychia
- Pachyonychia Congenita Syndromes
- Syndrome, Pachyonychia Congenita
- Syndromes, Pachyonychia Congenita
- Congenital Pachyonychia
- Congenital Pachyonychias
- Pachyonychia, Congenital
- Pachyonychias, Congenital
Pachyonychia Congenita, Type 2- Pachyonychia Congenita, Type 2
- Jackson-Lawler Syndrome (Pc-2)
- Type 2 Pachyonychia Congenita
- Pachyonychia Congenita Jackson Lawler Type
- Pachyonychia Congenita, Jackson-Lawler Type
- Pachyonychia Congenita, Jackson Lawler Type
- Jackson-Lawler Type Pachyonychia Congenita
- Jackson Lawler Type Pachyonychia Congenita
Pachyonychia Congenita, Type 1- Pachyonychia Congenita, Type 1
- Jadassohn-Lewandowsky Syndrome
- Jadassohn Lewandowsky Syndrome
- Jadassohn-Lewandowski Syndrome (Pc-1)
- Type 1 Pachyonychia Congenita
- Pachyonychia Congenita Type 1
- Pachyonychia Congenita, Jadassohn-Lewandowsky Type
- Pachyonychia Congenita, Jadassohn Lewandowsky Type
- Pachyonychia Congenita Tarda, Type 1
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Below are MeSH descriptors whose meaning is more general than "Pachyonychia Congenita".
Below are MeSH descriptors whose meaning is more specific than "Pachyonychia Congenita".
This graph shows the total number of publications written about "Pachyonychia Congenita" by people in this website by year, and whether "Pachyonychia Congenita" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2007 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Pachyonychia Congenita" by people in Profiles.
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Cao YA, Hickerson RP, Seegmiller BL, Grapov D, Gross MM, Bessette MR, Phinney BS, Flores MA, Speaker TJ, Vermeulen A, Bravo AA, Bruckner AL, Milstone LM, Schwartz ME, Rice RH, Kaspar RL. Gene expression profiling in pachyonychia congenita skin. J Dermatol Sci. 2015 Mar; 77(3):156-65.
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van Steensel MAM, Coulombe PA, Kaspar RL, Milstone LM, McLean IWH, Roop DR, Smith FJD, Sprecher E, Schwartz ME. Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting. J Invest Dermatol. 2014 Mar; 134(3):588-591.
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Leachman SA, Hickerson RP, Hull PR, Smith FJ, Milstone LM, Lane EB, Bale SJ, Roop DR, McLean WH, Kaspar RL. Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. J Dermatol Sci. 2008 Sep; 51(3):151-7.
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Chen J, Jaeger K, Den Z, Koch PJ, Sundberg JP, Roop DR. Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita. J Invest Dermatol. 2008 Feb; 128(2):270-9.
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