Genotype-structurotype-phenotype correlations in pachyonychia congenita patients

2021 ◽  
Author(s):  
Tiffany T. Wu ◽  
Sherif A. Eldirany ◽  
Christopher G. Bunick ◽  
Joyce M.C. Teng
Keyword(s):  
Pachyonychia Congenita

Cornoid lamella in pachyonychia congenita

1978 ◽  
Vol 114 (12) ◽  
pp. 1795-1796 ◽  
Author(s):  
J. K. Wilkin
Keyword(s):  
Cornoid Lamella ◽  
Pachyonychia Congenita

A Case of Pachyonychia Congenita Complicated with Psoriasis Vulgaris

2016 ◽  
Vol 78 (2) ◽  
pp. 145-148
Author(s):  
Ryo UTSUNOMIYA ◽  
Mikiko TOHYAMA ◽  
Yasushi HANAKAWA ◽  
Shinji MURAKAMI ◽  
Yuji SHIRAKATA ◽  
...  
Keyword(s):  
Psoriasis Vulgaris ◽  
Pachyonychia Congenita

A Case of Pachyonychia Congenita Type 2 Successfully Treated with Oral Etretinate.

2002 ◽  
Vol 64 (4) ◽  
pp. 434-438
Author(s):  
Kenjiro TERASAKI ◽  
Shinichi YOTSUMOTO ◽  
Tamotsu KANZAKI ◽  
Mitsuru SETOYAMA ◽  
Yutaro TERASAKI
Keyword(s):  
Pachyonychia Congenita

Pachyonychia congenita in the absence of other syndrome abnormalities

1994 ◽  
Vol 30 (6) ◽  
pp. 1017-1018 ◽  
Author(s):  
Ann Chang ◽  
Georges P.H. Lucker ◽  
Peter C.M. van de Kerkhof ◽  
Peter M. Steijlen
Keyword(s):  
Pachyonychia Congenita

Management of Plantar Keratodermas

2017 ◽  
Vol 107 (5) ◽  
pp. 428-435 ◽  
Author(s):  
Rebecca M. Porter ◽  
Albert A. Bravo ◽  
Frances J.D. Smith
Keyword(s):  
Gene Therapy ◽  
Salicylic Acid ◽  
Alternative Treatment ◽  
Autosomal Dominant ◽  
Treatment Options ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Inherited Mutations ◽  
Pachyonychia Congenita

Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. However, there are frequent cases of plantar keratoderma that occur in isolation. This review focuses on the rare autosomal dominant keratin disorder pachyonychia congenita, which presents with particularly painful plantar keratoderma for which there is no specific treatment. Typically, patients regularly trim/pare/file/grind their calluses and file/grind/clip their nails. Topical agents, including keratolytics (eg, salicylic acid, urea) and moisturizers, can provide limited benefit by softening the skin. For some patients, retinoids help to thin calluses but may lead to increased pain. This finding has stimulated a drive for alternative treatment options, from gene therapy to alternative nongenetic methods that focus on novel findings regarding the pathogenesis of pachyonychia congenita and the function of the underlying genes.

Pachyonychia congenita, type II

2003 ◽  
Vol 9 (4) ◽  
Author(s):  
Bruce E Strober
Keyword(s):  
Type Ii ◽  
Pachyonychia Congenita
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