Results 31 to 40 of about 1,347 (192)

Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing

Frontiers in Genetics, 2021
Nagashima-type palmoplantar keratoderma (NPPK) is characterized by non-progressive, diffuse, and cross-gradient hyperkeratosis caused by mutations in the SERPINB7 gene on chromosome 18q21.33. Chromosome 18q deletion syndrome (18q- syndrome) is a terminal
Qianqian Li, Xiaofan Zhu, Conghui Wang, Jingjing Meng, Duo Chen, Xiangdong Kong   +5 more
doaj   +1 more source

Diagnosis and Management of Inherited Palmoplantar Keratodermas

Acta Dermato-Venereologica, 2020
Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin.
Bjorn R. Thomas, Edel A. O'Toole
doaj   +1 more source

Diffuse Nonepidermolytic Palmoplantar Keratoderma Caused by a Recurrent Nonsense Mutation in DSG1 [PDF]

Archives of Dermatology, 2005
Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris striata.We describe a family affected with a diffuse nonstriated form of palmoplantar keratoderma.
Hannah, Keren, Reuven, Bergman, Mordechai, Mizrachi, Yechiezkel, Kashi, Eli, Sprecher   +4 more
openaire   +2 more sources

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

Case Reports in Dermatology, 2015
Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma.
Fahad Almutawa, Thusanth Thusaringam, Kevin Watters, Tenzin Gayden, Nada Jabado, Denis Sasseville   +5 more
doaj   +1 more source

Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. [PDF]

, 2010
Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species.
Jeong, SY, Kim, HJ, Choung, YH, Hyon J Kim, Jae Yeol Lee, You Chan Kim, Yun Hoon Choung, Lee, JY, Kim, YC, Sung-Il In, Seon-Yong Jeong, In, SI   +11 more
core   +1 more source

Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7

Case Reports in Dermatology, 2020
Nagashima-type palmoplantar keratosis (NPPK) is a diffuse, non-syndromic (isolated), autosomal recessive palmoplantar keratoderma (PPK) with transgredients. It is characterized by non-progressive mild to moderate transgredient PPK.
Chankiat Songsantiphap, Jirat Suwanwatana, Chupong Ittiwut, Pravit Asawanonda, Pawinee Rerknimitr, Vorasuk Shotelersuk   +5 more
doaj   +1 more source

Keratodermia

Лечащий Врач, 2021
The article covers information about keratodermia, a heterogeneous group of conditions characterized by abnormal thickening of the skin of the palms and soles. Traditionally, acquired and hereditary forms are distinguished. In clinical practice, the most
L. A. Yusupovа, Z. Sh. Garaeva, E. I. Yunusova, G. I. Mavlyutova, A. R. Galimova   +4 more
doaj   +1 more source

Tegafur-induced acral hyperpigmentation

Dermatology Reports, 2011
Tegafur is a prodrug of 5-fluorouracil (5-FU) with a similar spectrum of antitumor activity. It is used in the treatment of advanced gastrointestinal neoplasms.
Vera Teixeira, Ricardo Vieira, Américo Figueiredo   +2 more
doaj   +1 more source

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma. [PDF]

JAMA Dermatol
IMPORTANCE: Palmoplantar keratoderma poses diagnostic challenges due to its clinical and genetic heterogeneity, and knowledge on the value of systematic genetic testing on clinically well-described patient cohorts is sparse.OBJECTIVE: To improve ...
Gram SB, Brusgaard K, Lei U, Sommerlund M, Vinding GR, Sleire SOK, Christensen AH, Fast SP, Bach R, Bygum A, Ousager LB.   +10 more
europepmc   +2 more sources

Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB [PDF]

, 2019
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 ...
Wilson, N. J., Leitch, C., Mackenzie, A., Sobey, G., Smith, F. J. D., Zamiri, M.   +5 more
core   +1 more source