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8 Result(s)

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  1. No Access

    Reference Work Entry In depth

    Disorders of Keratinization

    Hereditary keratinization disorders are inherited skin diseases characterized by abnormal keratinization. The formation of an abnormal stratum corneum and hyperkeratotic skin lesions are the common characteris...

    Asmahane Souissi, Nourchène Toukabri… in Atlas of Dermatology, Dermatopathology and… (2022)

  2. No Access

    Reference Work Entry In depth

    Genodermatoses

    Genodermatoses comprise a clinically-heterogeneous group of mostly devastating disorders affecting the skin. The inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and dis...

    Wissem Hafsi, Nourchène Toukabri… in Atlas of Dermatology, Dermatopathology and… (2022)

  3. No Access

    Living Reference Work Entry In depth

    Genodermatoses

    Genodermatoses comprise a clinically-heterogeneous group of mostly devastating disorders affecting the skin. The inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and dis...

    Wissem Hafsi, Nourchène Toukabri… in Atlas of Dermatology, Dermatopathology and…

  4. No Access

    Living Reference Work Entry In depth

    Disorders of Keratinization

    Hereditary keratinization disorders are inherited skin diseases characterized by abnormal keratinization. The formation of an abnormal stratum corneum and hyperkeratotic skin lesions are the common characteris...

    Asmahane Souissi, Nourchène Toukebri… in Atlas of Dermatology, Dermatopathology and…

  5. No Access

    Article

    Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia

    Dystrophic epidermolysis bullosa (DEB) is a group of heritable bullous skin disorders caused by mutations in the COL7A1 gene. One of the most severe forms of DEB is the severe generalized [recessive dystrophic e...

    Ahlem Sabrine Ben Brick, Nadia Laroussi… in Archives of Dermatological Research (2014)

  6. No Access

    Article

    c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum

    Xeroderma pigmentosum is a rare autosomal recessive disease characterized by hypersensitivity to UV light which is due to alterations of the nucleotide excision repair pathway. Eight genes (XPA to XPG and XPV) ar...

    Mohamed Amine Senhaji, Omar Abidi, Sellama Nadifi… in Archives of Dermatological Research (2013)

  7. No Access

    Article

    New mutations of Darier disease in Tunisian patients

    Darier’s disease (DD, MIM 124200) also known as Darier-White disease and keratosis follicularis, is a rare autosomal dominant skin disorder characterized by warty papules and plaques in the seborrheic area (ce...

    Mbarka Bchetnia, Rym Benmously… in Archives of Dermatological Research (2009)

  8. No Access

    Article

    Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis

    Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis caused by mutations in the type VII collagen gene COL7A1. Clinical diagnosis of DEB should be confirmed by histopathological and electron microscopy...

    Houyem Ouragini, Faïka Cherif, Wafa Daoud… in Archives of Dermatological Research (2008)