How do keratinizing disorders and blistering disorders overlap?

[epidermolysis bullosa simplex]

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 .

Diseases
Validation

Diseases presenting "superficial epidermolytic ichthyosis" symptom

epidermolysis bullosa simplex

harlequin ichthyosis

lamellar ichthyosis

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