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The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten).
Gamborg Nielsen P, Hofer PA, Lagerholm B. Gamborg Nielsen P, et al. Dermatology. 1994;188(3):188-93. doi: 10.1159/000247136. Dermatology. 1994. PMID: 7514461
The frequency of autosomal dominant inherited palmoplantar keratoderma (HPPK) in the northernmost county of Sweden (Norrbotten) is 0.55%. Histopathological examination of 91 biopsies from patients with the dominant form of HPPK revealed no case of epid …
The frequency of autosomal dominant inherited palmoplantar keratoderma (HPPK) in the northernmost county of Sweden (Norrbot
Symmetrical acral keratoderma revisited: proposal for a new term, 'pigmented carpotarsal hyperkeratosis'.
Chen W, Song Z, Yang CC, Hao F. Chen W, et al. J Eur Acad Dermatol Venereol. 2019 Feb;33(2):277-280. doi: 10.1111/jdv.15266. Epub 2018 Oct 23. J Eur Acad Dermatol Venereol. 2019. PMID: 30284750 Review.
To be distinguished are acral acanthosis nigricans, palmoplantar keratoderma of the Nagashima type, palmoplantar keratoderma of the Bothnian type and aquagenic palmoplantar keratoderma. ...Further genetic and molecular studies are required to clarify i …
To be distinguished are acral acanthosis nigricans, palmoplantar keratoderma of the Nagashima type, palmoplantar keratoderma o …
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype.
Fertitta L, Charbit-Henrion F, Leclerc-Mercier S, Nguyen-Khoa T, Baran R, Alby C, Steffann J, Sermet-Gaudelus I, Hadj-Rabia S. Fertitta L, et al. Genes (Basel). 2022 Dec 14;13(12):2360. doi: 10.3390/genes13122360. Genes (Basel). 2022. PMID: 36553627 Free PMC article.
Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion. ...
Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK char
Hereditary palmoplantar keratoderma and dermatophytosis in the northernmost county of Sweden (Norrbotten).
Nielsen PG. Nielsen PG. Acta Derm Venereol Suppl (Stockh). 1994;188:1-60. Acta Derm Venereol Suppl (Stockh). 1994. PMID: 9868488
Clinical reports of hereditary palmoplantar keratoderma are generally based on a limited number of patients. In 1967 the prevalence in the northernmost county of Sweden (Norrbotten) was shown to be 0.55%. ...Histopathological features of epidermolytic palmoplantar …
Clinical reports of hereditary palmoplantar keratoderma are generally based on a limited number of patients. In 1967 the prevalence i …
AQP5 pathogenic variants induce palmoplantar keratoderma Bothnia type in two Chinese families.
Wang Y, Wang J, Li Y, Pan C, Zhou W, Cao Q, Yao Z, Han J, Li M. Wang Y, et al. J Dermatol. 2022 Apr;49(4):463-468. doi: 10.1111/1346-8138.16281. Epub 2022 Jan 11. J Dermatol. 2022. PMID: 35014096
Palmoplantar keratoderma Bothnia type (PPKB) is caused by AQP5 pathogenic variants. ...
Palmoplantar keratoderma Bothnia type (PPKB) is caused by AQP5 pathogenic variants. ...
Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden.
Gamborg Nielsen P. Gamborg Nielsen P. Clin Genet. 1985 Nov;28(5):361-6. doi: 10.1111/j.1399-0004.1985.tb02208.x. Clin Genet. 1985. PMID: 2935332
A follow-up study of clinical and genetic observations, made on patients with hereditary palmoplantar keratoderma living in the northernmost county of Sweden (Norrbotten) in 1967, was performed. ...Occurrence of hereditary palmoplantar keratoderma together wi …
A follow-up study of clinical and genetic observations, made on patients with hereditary palmoplantar keratoderma living in the north …
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis.
Kastl I, Anton-Lamprecht I, Gamborg Nielsen P. Kastl I, et al. Arch Dermatol Res. 1990;282(6):363-70. doi: 10.1007/BF00372085. Arch Dermatol Res. 1990. PMID: 2260881
A new kind of diffuse palmoplantar keratoderma with autosomal recessive inheritance and without associated symptoms was described in Norrbotten, Sweden by Gamborg Nielsen in 1985. ...A delay in this process may be caused by a mutation that reduces or alters the enzy …
A new kind of diffuse palmoplantar keratoderma with autosomal recessive inheritance and without associated symptoms was described in …
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report.
Krøigård AB, Hetland LE, Clemmensen O, Blaydon DC, Hertz JM, Bygum A. Krøigård AB, et al. BMC Dermatol. 2016 Jun 3;16(1):7. doi: 10.1186/s12895-016-0044-3. BMC Dermatol. 2016. PMID: 27255181 Free PMC article.
BACKGROUND: An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protein aquaporin 5 leading to def …
BACKGROUND: An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma
15 results