Genetic disease

Section edited by Prof. Xianyong Yin.

This section considers the diagnosis and management of genodermatoses.

  1. Research article

    Expression profiling and bioinformatic analyses suggest new target genes and pathways for human hair follicle related microRNAs

    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...

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

    BMC Dermatology 2017 17:3

    Published on: 22 February 2017

  2. Case report

    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

    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...

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

    BMC Dermatology 2016 16:7

    Published on: 3 June 2016

  3. Case report

    Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

    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...

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

    BMC Dermatology 2016 16:3

    Published on: 10 March 2016

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