Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB

M Zamiri (Lead / Corresponding author), N J Wilson, A Mackenzie, G Sobey, C Leitch, F J D Smith

Research output: Contribution to journalLetter

Abstract

Punctate palmoplantar keratoderma (PPPK) is a rare, autosomal dominant disorder of keratinization with three main variants. PPPK type 1 (MIM 148600), also known as Buschke-Fischer-Brauer disease, is characterized by the progressive development of multiple small hyperkeratotic papules with central indentations that are irregularly distributed on the palms and soles, often deteriorating to more extensive diffuse hyperkeratosis on the weight-bearing areas of plantar skin. The PPPK1 gene was recently identified as the α and γ-adaptin binding protein p34 gene AAGAB, and in a single case, the COL14A1 gene. This article is protected by copyright. All rights reserved.

Original languageEnglish
Number of pages7
JournalThe British journal of dermatology
DOIs
Publication statusE-pub ahead of print - 19 Nov 2018

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Palmoplantar Keratoderma
Mutation
Genes
Weight-Bearing
Carrier Proteins
Skin

Cite this

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title = "Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB",
abstract = "Punctate palmoplantar keratoderma (PPPK) is a rare, autosomal dominant disorder of keratinization with three main variants. PPPK type 1 (MIM 148600), also known as Buschke-Fischer-Brauer disease, is characterized by the progressive development of multiple small hyperkeratotic papules with central indentations that are irregularly distributed on the palms and soles, often deteriorating to more extensive diffuse hyperkeratosis on the weight-bearing areas of plantar skin. The PPPK1 gene was recently identified as the α and γ-adaptin binding protein p34 gene AAGAB, and in a single case, the COL14A1 gene. This article is protected by copyright. All rights reserved.",
author = "M Zamiri and Wilson, {N J} and A Mackenzie and G Sobey and C Leitch and Smith, {F J D}",
note = "This article is protected by copyright. All rights reserved.",
year = "2018",
month = "11",
day = "19",
doi = "10.1111/bjd.17442",
language = "English",
journal = "British Journal of Dermatology",
issn = "0007-0963",
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Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB. / Zamiri, M (Lead / Corresponding author); Wilson, N J; Mackenzie, A; Sobey, G; Leitch, C; Smith, F J D.

In: The British journal of dermatology, 19.11.2018.

Research output: Contribution to journalLetter

TY - JOUR

T1 - Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB

AU - Zamiri, M

AU - Wilson, N J

AU - Mackenzie, A

AU - Sobey, G

AU - Leitch, C

AU - Smith, F J D

N1 - This article is protected by copyright. All rights reserved.

PY - 2018/11/19

Y1 - 2018/11/19

N2 - Punctate palmoplantar keratoderma (PPPK) is a rare, autosomal dominant disorder of keratinization with three main variants. PPPK type 1 (MIM 148600), also known as Buschke-Fischer-Brauer disease, is characterized by the progressive development of multiple small hyperkeratotic papules with central indentations that are irregularly distributed on the palms and soles, often deteriorating to more extensive diffuse hyperkeratosis on the weight-bearing areas of plantar skin. The PPPK1 gene was recently identified as the α and γ-adaptin binding protein p34 gene AAGAB, and in a single case, the COL14A1 gene. This article is protected by copyright. All rights reserved.

AB - Punctate palmoplantar keratoderma (PPPK) is a rare, autosomal dominant disorder of keratinization with three main variants. PPPK type 1 (MIM 148600), also known as Buschke-Fischer-Brauer disease, is characterized by the progressive development of multiple small hyperkeratotic papules with central indentations that are irregularly distributed on the palms and soles, often deteriorating to more extensive diffuse hyperkeratosis on the weight-bearing areas of plantar skin. The PPPK1 gene was recently identified as the α and γ-adaptin binding protein p34 gene AAGAB, and in a single case, the COL14A1 gene. This article is protected by copyright. All rights reserved.

U2 - 10.1111/bjd.17442

DO - 10.1111/bjd.17442

M3 - Letter

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

ER -