"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
|
| 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
|
| 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
|
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 |
|---|
| 2006 | 1 | 0 | 1 |
| 2007 | 3 | 0 | 3 |
| 2008 | 2 | 0 | 2 |
| 2009 | 2 | 0 | 2 |
| 2010 | 1 | 0 | 1 |
| 2011 | 6 | 0 | 6 |
| 2012 | 2 | 0 | 2 |
| 2013 | 2 | 0 | 2 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Pachyonychia Congenita" by people in Profiles.
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Youssefian L, Vahidnezhad H. Management of symptomatic mucosal involvement in paediatric pachyonychia congenita. Br J Dermatol. 2020 03; 182(3):536-537.
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Abdollahimajd F, Rajabi F, Shahidi-Dadras M, Saket S, Youssefian L, Vahidnezhad H, Uitto J. Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation. Br J Dermatol. 2019 09; 181(3):584-586.
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Smith FJD, McLean WHI. Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism. J Dermatol. 2017 12; 44(12):e312.
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Abbas M, Schwartz ME, Smith FJ, McLean WH, Hull PR. PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita. J Cutan Med Surg. 2015 Jan-Feb; 19(1):57-65.
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Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug; 171(2):343-55.
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Higgins E, Capra M, Schwartz ME, Smith FJ, McLean WH, Irvine AD. Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma. Br J Dermatol. 2013 Dec; 169(6):1357-60.
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Wilson NJ, Hansen CD, Azkur D, Kocabas CN, Metin A, Coskun Z, Schwartz ME, Hull PR, McLean WH, Smith FJ. Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. J Dermatol Sci. 2013 Apr; 70(1):58-60.
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Wilson NJ, P?rez ML, Vahlquist A, Schwartz ME, Hansen CD, McLean WH, Smith FJ. Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita. J Invest Dermatol. 2012 Jul; 132(7):1921-4.
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Harris K, Hull PR, Hansen CD, Smith FJ, McLean WH, Arbiser JL, Leachman SA. Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation. Br J Dermatol. 2012 Jan; 166(1):124-8.
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Pho LN, Smith FJ, Konecki D, Bale S, McLean WH, Cohen B, Eliason MJ, Leachman SA. Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita. Arch Dermatol. 2011 Sep; 147(9):1077-80.