Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

2017 ◽  
Vol 42 (3) ◽  
pp. 316-319 ◽  
Author(s):  
N. Dinani ◽  
M. Ali ◽  
L. Liu ◽  
J. McGrath ◽  
J. Mellerio
Keyword(s):  
Autosomal Dominant ◽  
Palmoplantar Keratoderma

Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

2015 ◽  
Vol 174 (2) ◽  
pp. 430-432 ◽  
Author(s):  
A. Abdul-Wahab ◽  
T. Takeichi ◽  
L. Liu ◽  
D. Lomas ◽  
B. Hughes ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Recurrent Mutation ◽  
Palmoplantar Keratoderma ◽  
Aquaporin 5

scholarly journals Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

2013 ◽  
Vol 93 (2) ◽  
pp. 330-335 ◽  
Author(s):  
Diana C. Blaydon ◽  
Lisbet K. Lind ◽  
Vincent Plagnol ◽  
Kenneth J. Linton ◽  
Francis J.D. Smith ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Water Channel ◽  
Palmoplantar Keratoderma ◽  
Channel Protein ◽  
Water Channel Protein

Mutation inDSG1causing autosomal dominant striate palmoplantar keratoderma

2009 ◽  
Vol 161 (3) ◽  
pp. 692-694 ◽  
Author(s):  
M. Zamiri ◽  
F.J.D. Smith ◽  
L.E. Campbell ◽  
L. Tetley ◽  
R.A.J. Eady ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Palmoplantar Keratoderma

Novel mutation in the DSG1 gene causes autosomal‐dominant striate palmoplantar keratoderma in a large Syrian family

2019 ◽  
Vol 83 (6) ◽  
pp. 472-476
Author(s):  
Batoul Abi Zamer ◽  
Mona Mahfood ◽  
Batoul Saleh ◽  
Abdullah Fahd Al Mutery ◽  
Abdelaziz Tlili
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Palmoplantar Keratoderma

Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene

2010 ◽  
Vol 152A (7) ◽  
pp. 1798-1802 ◽  
Author(s):  
Ralf Birkenhäger ◽  
Nicola Lüblinghoff ◽  
Erick Prera ◽  
Christian Schild ◽  
Antje Aschendorff ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Gjb2 Gene ◽  
Palmoplantar Keratoderma ◽  
Clinical Expression

scholarly journals Unna Thost syndrome: a case report

2019 ◽  
Vol 6 (4) ◽  
pp. 1767
Author(s):  
Geetha M. ◽  
Rajeswari Bhat ◽  
Kiran B. ◽  
Madhusmitha Jena ◽  
Libni D. Angel
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Palmoplantar Keratoderma ◽  
Autosomal Dominant Fashion ◽  
Second Degree

Unna thost syndrome is Palmo Plantar Keratoderma (PPK) of diffuse non epidermolytic type inherited in autosomal dominant fashion. Authors had a seven-year-old boy born to second degree consanguineous parents had palmoplantar keratoderma with hyperhidrosis with positive family history. He was promptly diagnosed and treated with acitretin and showed improvement.

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