Steatocystoma multiplex, a rare distribution of a rare disease

Cuperus, Edwin; Leguit, Roos J.; Sigurdsson, V.

doi:10.1684/ejd.2010.0915

Cited by 3 publications

(2 citation statements)

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“…Diseases caused by mutations in the keratin genes include EB simplex, epidermolytic ichthyosis (EI), superficial epidermolytic ichthyosis (SEI), epidermolytic palmoplantar keratoderma (EPPK; Vörner type palmoplantar keratoderma), pachyonychia congenita/focal palmoplantar keratoderma and steatocystoma multiplex . EB simplex was described in the previous section.…”

Section: Inherited Skin Disorders Of Epidermal Keratinsmentioning

confidence: 99%

“…EPPK is caused by mutations in the KRT9 gene . Finally, pachyonychia congenita/focal palmoplantar keratoderma is caused by mutations in the KRT6A‐C, KRT16 or KRT17 genes and often shows palmoplantar keratoderma with underlying blister formation . Thus, dysfunction of keratins surely leads to both blisters and abnormal keratinization.…”

Section: Inherited Skin Disorders Of Epidermal Keratinsmentioning

confidence: 99%

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How do keratinizing disorders and blistering disorders overlap?

Hamada

Tsuruta

Fukuda

et al. 2012

Experimental Dermatology

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Inherited keratinizing disorders are caused by mutations in the genes encoding cornified cell envelope proteins, enzymes and their inhibitors, adhesion molecules, cytoskeletal proteins and others in the epidermis. These molecules are known to regulate differentiation, proliferation and cell adhesions. Intriguingly, some keratinizing disorders show blistering skin lesions, while some inherited blistering disorders show abnormal keratinization. Therefore, hereditary keratinizing and blistering diseases are closely related and show overlapping genetic backgrounds. In this review, we overviewed keratinizing and blistering disorders in terms of overlapping of the two disease groups. Gene mutations in desmosomal components cause striate keratoderma, Naxos disease, epidermolytic palmoplantar keratoderma and plakophilin deficiency, which first show skin fragility and blisters and later hyperkeratosis. Gene mutations in hemidesmosomal components cause various forms of epidermolysis bullosa, some of which show hyperkeratosis on the nails, palms and soles, in addition to blister formation. Diseases with gene mutations in calcium pump proteins are Darier disease and Hailey-Hailey disease, which show clinicopathological overlaps and develop both keratinizing and blistering skin lesions. Finally, gene mutations in epidermal keratins cause epidermolysis bullosa simplex, epidermolytic ichthyosis, superficial epidermolytic ichthyosis, epidermolytic palmoplantar keratoderma and pachyonychia congenita/focal palmoplantar keratoderma, which show thickening of the palms and soles with underlying blister formation. In general, responsible proteins for diseases developing both keratinizing and blistering conditions are adhesion molecules, calcium pump proteins and keratins, but not connexins, cornified cell envelop proteins, enzymes or inhibitors. It is still unknown how particular keratinizing diseases develop blisters and vice versa.

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Section: Inherited Skin Disorders Of Epidermal Keratinsmentioning

confidence: 99%

Section: Inherited Skin Disorders Of Epidermal Keratinsmentioning

confidence: 99%

How do keratinizing disorders and blistering disorders overlap?

Hamada

Tsuruta

Fukuda

et al. 2012

Experimental Dermatology

View full text Add to dashboard Cite

show abstract