Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression

2009 ◽  
Vol 19 (2) ◽  
pp. 114-118 ◽  
Author(s):  
Andrea Codispoti ◽  
Enrico Colombo ◽  
Loredana Zocchi ◽  
Valeria Serra ◽  
Ginevra Pertusi ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Knuckle Pads

A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly

2011 ◽  
Vol 21 (5) ◽  
pp. 675-679 ◽  
Author(s):  
Zhen-Fang Du ◽  
Wei Wei ◽  
Yi-Fan Wang ◽  
Xiao-Ling Chen ◽  
Chun-Yue Chen ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Palmoplantar Keratoderma ◽  
Knuckle Pads

scholarly journals A Novel GJB2 Mutation p.Asn54His in a Patient with Palmoplantar Keratoderma, Sensorineural Hearing Loss and Knuckle Pads

2007 ◽  
Vol 127 (6) ◽  
pp. 1540-1543 ◽  
Author(s):  
Masashi Akiyama ◽  
Kaori Sakai ◽  
Ken Arita ◽  
Yukiko Nomura ◽  
Kei Ito ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Palmoplantar Keratoderma ◽  
Gjb2 Mutation ◽  
Knuckle Pads

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads

2003 ◽  
Vol 120A (3) ◽  
pp. 345-349 ◽  
Author(s):  
Yong Lu ◽  
Chenhong Guo ◽  
Qiji Liu ◽  
Xiyu Zhang ◽  
Lin Cheng ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Palmoplantar Keratoderma ◽  
Knuckle Pads

Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads

2007 ◽  
Vol 45 (1) ◽  
pp. 63-65 ◽  
Author(s):  
Y.-S. Sheen ◽  
C.-Y. Chu ◽  
P.-J. Lin ◽  
S.-H. Liaw ◽  
H.-C. Chiu ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Knuckle Pads

Novel mutation p.Gly59Arg inGJB6encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss

2009 ◽  
Vol 161 (2) ◽  
pp. 452-455 ◽  
Author(s):  
I. Nemoto-Hasebe ◽  
M. Akiyama ◽  
S. Kudo ◽  
A. Ishiko ◽  
A. Tanaka ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Novel Mutation ◽  
Palmoplantar Keratoderma ◽  
Knuckle Pads ◽  
Connexin 30

scholarly journals Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin

2015 ◽  
Vol 7 (2) ◽  
pp. 220-226 ◽  
Author(s):  
Fahad Almutawa ◽  
Thusanth Thusaringam ◽  
Kevin Watters ◽  
Tenzin Gayden ◽  
Nada Jabado ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Correct Diagnosis ◽  
Type I ◽  
Palmoplantar Keratoderma ◽  
Whole Exome ◽  
Epidermolytic Hyperkeratosis ◽  
Dominant Disease ◽  
Knuckle Pads ◽  
Pachyonychia Congenita

Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. Case: A 49-year-old male presented with diffuse and striate palmoplantar keratoderma, thickened nails, knuckle pads, and pseudoainhum. Histology showed compact hyperkeratosis, prominent irregular acanthosis, and extensive epidermolytic hyperkeratosis, suggestive of Vörner's palmoplantar keratoderma. However, keratin 9 and 1 were not mutated, and full exome sequencing showed heterozygous missense mutation in type I keratin K16. Conclusion: To our knowledge, epidermolytic hyperkeratosis has not been previously described with PC. Our patient had an excellent response, maintained over the last 5 years, to a low dose of acitretin. We wish to emphasize the crucial role of whole exome sequencing in establishing the correct diagnosis.

Case of epidermolytic palmoplantar keratoderma with knuckle pads

2011 ◽  
Vol 39 (1) ◽  
pp. 84-87
Author(s):  
Masahiro HAYASHI ◽  
Hajime NAKANO ◽  
Daisuke SAWAMURA ◽  
Tamio SUZUKI
Keyword(s):  
Palmoplantar Keratoderma ◽  
Knuckle Pads
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