Results 31 to 40 of about 1,256 (158)

Clathrin Adaptor Complex-interacting Protein Irc6 Functions through the Conserved C-Terminal Domain. [PDF]

, 2019
Clathrin coats drive transport vesicle formation from the plasma membrane and in pathways between the trans-Golgi network (TGN) and endosomes. Clathrin adaptors play central roles orchestrating assembly of clathrin coats.
Costaguta, Giancarlo, Payne, Gregory S, Zhou, Huajun   +2 more
core   +2 more sources

A case of porokeratotic adnexal ostial nevus misdiagnosed as wart

Clinical Case Reports, Volume 9, Issue 3, Page 1092-1094, March 2021., 2021
Porokeratotic adnexal ostial nevus may be misdiagnosed as wart based on clinical appearance and morphology. An accurate diagnosis through skin biopsy is crucial, as is the inclusion of rare disorders such as porokeratotic adnexal ostial nevus in the differential diagnosis. Abstract Porokeratotic adnexal ostial nevus may be misdiagnosed as wart based on
Bo Ram Kwon, Rosa Kim, Ji Yeon Byun, You Won Choi, Hae Young Choi, Min Young Lee   +5 more
wiley   +1 more source

Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes:implications for genetic screening [PDF]

, 2017
INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology
Almutawa, Armstrong, Dua-Awereh, Harmon, Has, Hershkovitz, Hunt, Irvine, Itin, Keren, Klijuic, McAleer, Milingou, Nomura, Samuelov, Wan, Whittock   +16 more
core   +2 more sources

Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]

, 2011
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore, Cottoni, Francesca Maria Giovanna, Cucca, Francesco, Fozza, Claudio, Galleu, Antonio, Longinotti, Maurizio Roberto, Poddie, Fausto Pier'Angelo   +6 more
core   +3 more sources

Unilateral clustered papules on the palm

, 2023
JEADV Clinical Practice, Volume 2, Issue 4, Page 1005-1008, December 2023.
Yuhao Pi, Ling Liu
wiley   +1 more source

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death [PDF]

, 2018
Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p.G45E), in two unrelated patients and investigated its cellular ...
Alboulshi, A. K., Broers, M. R., Brouns, G. H., Coull, Barry. J., Easton, J. A., Kamps, M. A. F., Martin, P. E., Oji, V., van Geel, M., van Steensel, M. A. M.   +9 more
core   +5 more sources

Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma [PDF]

, 2023
Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss of function variants in desmosomal genes lead to a variety of skin and heart related phenotypes.
Andrei, Daniela, Arp, Pascal, Bolling, Maria C, Bremer, Jeroen, Dean, M Christopher, Diercks, Gilles FH, Giepmans, Ben NG, Hoes, Martijn F, Hoogeboom, A Jeannette M, Hublin, Jean-Jacques, Kramer, Duco, Meijer, Hillegonda J, Nijenhuis, Miranda, Oberdorf-Maass, Silke, Pas, Hendri H, Romero-Herrera, Pedro H, Saris, Jasper, Schouten, Marloes, Silljé, Herman HW, Slotman, Johan A, Stoop, Hans, Uitterlinden, André G, van den Akker, Peter C, van den Ouweland, Ans MW, van der Meer, Peter, van der Molen, Marije, Verkerk, Annemieke JMH, Verlouw, Joost AM, Vermeer, Mathilde CSC, Willemsen, Rob   +29 more
core   +5 more sources

Yellowish papules on the palms: a diagnostic challenge

, 2023
International Journal of Dermatology, Volume 62, Issue 1, Page 37-39, January 2023.
Carlo Alberto Maronese, Italo Francesco Aromolo, Francesca Boggio, Marco Cusini, Angelo Valerio Marzano, Serena Giacalone   +5 more
wiley   +1 more source

Palmoplantar keratoderma of punctate type: acrokeratoelastoidosis Costa

Acta Dermato-Venereologica, 1980
A special type of punctate palmoplantar keratoderma occurring in 10 patients from six Finnish families is described clinically, histologically and ultrastructurally. Eight of the patients were women. The patients had symptomless, slightly elevated, transparent, round or oval, hyperkeratotic papules, 2 to 5 mm in diameter, located at the edges of the ...
E A, Johansson, A L, Kariniemi, K M, Niemi   +2 more
openaire   +2 more sources

Neoplasia‐related spiny keratoderma: Dermoscopic findings of two cases and a literature review

, 2021
Australasian Journal of Dermatology, Volume 62, Issue 3, Page e393-e396, August 2021.
Laura Cristina Gironi, Gianluca Landucci, Edoardo Cammarata, Lara Camillo, Paola Savoia   +4 more
wiley   +1 more source