N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

Hailey-Hailey disease (HHD), also called as familial benign chronic pemphigus, is a rare autosomal dominant blistering skin disease with waxing and waning in its clinical course. It is characterized by the presence of flaccid vesiculo-pustules, crusted erosions or expanding plaques in the areas of friction such as neck, axilla, groins, and perineum. His to pathologically shows suprabasal separations, inconspicuous dyskeratosis, acantholytic cells within the epidermis, giving a dilapidated brick wall appearance. Here we have discussed about the clinical and histopathological features of HHD and various differential diagnosis for this disease.

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

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2013.06.008 ◽

2013 ◽

Vol 93 (2) ◽

pp. 330-335 ◽

Cited By ~ 46

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

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Mutation inDSG1causing autosomal dominant striate palmoplantar keratoderma

British Journal of Dermatology ◽

10.1111/j.1365-2133.2009.09316.x ◽

2009 ◽

Vol 161 (3) ◽

pp. 692-694 ◽

Cited By ~ 13

Author(s):

M. Zamiri ◽

F.J.D. Smith ◽

L.E. Campbell ◽

L. Tetley ◽

R.A.J. Eady ◽

...

Keyword(s):

Autosomal Dominant ◽

Palmoplantar Keratoderma

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

Annals of Human Genetics ◽

10.1111/ahg.12335 ◽

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

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The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family

Clinical Genetics ◽

10.1034/j.1399-0004.2002.620409.x ◽

2002 ◽

Vol 62 (4) ◽

pp. 306-309 ◽

Cited By ~ 55

Author(s):

O Uyguner ◽

T Tukel ◽

C Baykal ◽

H Eris ◽

M Emiroglu ◽

...

Keyword(s):

Hearing Loss ◽

Autosomal Dominant ◽

Gjb2 Gene ◽

The Novel ◽

Palmoplantar Keratoderma ◽

Turkish Family

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

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.33464 ◽

2010 ◽

Vol 152A (7) ◽

pp. 1798-1802 ◽

Cited By ~ 20

Author(s):

Ralf Birkenhäger ◽

Nicola Lüblinghoff ◽

Erick Prera ◽

Christian Schild ◽

Antje Aschendorff ◽

...

Keyword(s):

Hearing Loss ◽

Autosomal Dominant ◽

Gjb2 Gene ◽

Palmoplantar Keratoderma ◽

Clinical Expression

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Unna Thost syndrome: a case report

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20192793 ◽

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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