Results 41 to 50 of about 1,347 (192)

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype

, 2022
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.
Laura Fertitta, Isabelle Sermet-Gaudelus, Sermet-Gaudelus, Isabelle, Leclerc-Mercier, Stéphanie, Steffann, Julie, Alby, Caroline, Fertitta, Laura, Baran, Robert, Stéphanie Leclerc-Mercier, Smail Hadj-Rabia, Robert Baran, Hadj-Rabia, Smail, Charbit-Henrion, Fabienne, Nguyen-Khoa, Thao, Fabienne Charbit-Henrion, Thao Nguyen-Khoa, Caroline Alby, Julie Steffann   +17 more
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Papillon-Lefevre syndrome with pseudoainhum

Indian Dermatology Online Journal, 2010
An interesting episode of Papillon-Lefevre syndrome in a 25-year-old female with diffuse palmoplantar keratoderma, periodontitis and pseudoainhum of the toes is reported for academic interest.
P Ashwani, K Swapna, M Sailaja Rani, B.S.N Reddy   +3 more
doaj   +1 more source

Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder

Indian Dermatology Online Journal, 2013
Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia with a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy.
Vinay Shanker, Mudita Gupta
doaj   +1 more source

Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients [PDF]

, 2021
Background Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues.
Einarsdottir, Elisabet,, Ranki, A., Karvonen, V, Heikkila, H, O. Elomaa, Heikkilä, Hannele, S. Kivirikko, Saarela, J., Hannula-Jouppi, K., Einarsdottir, E, Heikkilä, H., V. Karvonen, Elomaa, Outi, Kettunen, K., Hannula-Jouppi, Katariina Sara Eriikka, Ellonen, P., Saarela, J, Ellonen, Pekka, E. Einarsdottir, Kivirikko, Sirpa Johanna, J. Kere, K. Hannula‐Jouppi, Ellonen, P, A. Ranki, Harjama, L., Kere, Juha, K. Kettunen, Einarsdottir, Elisabet, Kettunen, Kaisa, Ranki, Annamari, P. Ellonen, Kettunen, K, H. Heikkilä, Karvonen, V., Harjama, Liisa H, Saarela, Janna, Kivirikko, S., Ranki, A, Harjama, L, L. Harjama, Karvonen, Vesa, J. Saarela, Kere, J., Elomaa, O., Elomaa, O, Kivirikko, S   +45 more
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Você conhece esta síndrome? Do you know this syndrome?

Anais Brasileiros de Dermatologia, 2011
A síndrome KLICK é uma genodermatose rara, autossômica recessiva, caracterizada pela associação de queratodermia palmo-plantar difusa e transgressiva, com esclerodactilia, placas hiperqueratóticas lineares localizadas preferencialmente em flexuras e ...
Isabela Guimarães Ribeiro Baeta, Ana Carolina Figueiredo Pereira, Antônio Carlos Martins Guedes, Luciana Baptista Pereira   +3 more
doaj   +1 more source

Novel mutations in desmoglein 1:Focal palmoplantar keratoderma in milder phenotypes [PDF]

, 2019
Striate palmoplantar keratoderma (SPPK) (OMIM 148700) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of the volar aspects of the fingers extending onto the palm, associated with focal to diffuse hyperkeratosis of the soles.
Wilson, N. J., O'Toole, E. A., Smith, F. J. D., Zamiri, M.   +3 more
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Data_Sheet_1_Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing.zip

, 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
Conghui Wang (4556071), Xiangdong Kong (534996), Jingjing Meng (101803), Qianqian Li (386223), Xiaofan Zhu (447606), Duo Chen (505788)   +5 more
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Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature

, 2006
Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis and honeycomb palmoplantar keratoderma but no occurrence of pseudoainhums or autoamputations.
Traupe, H., Fischer, B., Tinschert, S., Hennies, Hans C., Gedicke, M.M., Hennies, H.C.   +5 more
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Coexistence of Lichen Planus Pemphigoides, Palmoplantar Keratoderma of Unna-Thost, and Atopic Dermatitis

, 2022
Lichen planus pemphigoides (LPP) is a very rare auto-immune blistering disease associated with lichenoid skin changes. Unna-Thost palmoplantar keratoderma (PKK) is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and ...
Mokos, Mislav, Ljubojević Hadžavdić, Suzana   +1 more
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Hereditary palmoplantar keratoderma: A practical approach to the diagnosis

Indian Dermatology Online Journal, 2019
The ridged skin of the palms and soles has several unique features: (i) presence of dermatoglyphics created by alternating ridges and grooves forming a unique pattern, (ii) presence of the highest density of eccrine sweat glands and absence of ...
Tanvi Dev, Vikram K Mahajan, Gomathy Sethuraman   +2 more
doaj   +1 more source