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Genetic disease

Section edited by Prof. Xianyong Yin

This section considers articles describing the the diagnosis and management of genodermatoses. 

  1. The association of molecular phenotypes, such as gene transcript levels, with human common genetic variation can help to improve our understanding of interindividual variability of tissue-specific gene regulat...

    Authors: Marisol Herrera-Rivero, Lara M. Hochfeld, Sugirthan Sivalingam, Markus M. Nöthen and Stefanie Heilmann-Heimbach

    Citation: BMC Dermatology 2020 20:16

    Content type: Research article

    Published on:

  2. Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or aut...

    Authors: E. G. Okuneva, A. A. Kozina, N. V. Baryshnikova, A. Yu Krasnenko, K. Yu Tsukanov, O. I. Klimchuk, E. I. Surkova and V. V. Ilinsky

    Citation: BMC Dermatology 2019 19:4

    Content type: Case report

    Published on:

  3. Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakne...

    Authors: Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C. Branco, Raquel Senra, Ângela Reis-Rego and Luisa Mota-Vieira

    Citation: BMC Dermatology 2018 18:1

    Content type: Case report

    Published on:

  4. Human hair follicle (HF) cycling is characterised by the tight orchestration and regulation of signalling cascades. Research shows that micro(mi)RNAs are potent regulators of these pathways. However, knowledge...

    Authors: Lara M. Hochfeld, Thomas Anhalt, Céline S. Reinbold, Marisol Herrera-Rivero, Nadine Fricker, Markus M. Nöthen and Stefanie Heilmann-Heimbach

    Citation: BMC Dermatology 2017 17:3

    Content type: Research article

    Published on:

  5. 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 protei...

    Authors: Anne Bruun Krøigård, Liv Eline Hetland, Ole Clemmensen, Diana C. Blaydon, Jens Michael Hertz and Anette Bygum

    Citation: BMC Dermatology 2016 16:7

    Content type: Case report

    Published on:

  6. Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the...

    Authors: Anne Bruun Krøigård, Ole Clemmensen, Hans Gjørup, Jens Michael Hertz and Anette Bygum

    Citation: BMC Dermatology 2016 16:3

    Content type: Case report

    Published on:

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