Immunohistological study of involucrin expression in Darier's disease skin

Archive ouverte

Kassar, Selma | Charfeddine, Cherine | Zribi, Hela | Tounsi-Kettiti, Haifa | Bchetnia, Mbarka. | Jerbi, Emna | Cassio, Doris | Mokni, Mourad | Abdelhak, Sonia | Ben Osman, Amel | Boubaker, Samir

Edité par CCSD ; Wiley -

International audience. Darier's disease (DD) is an autosomal dominant skin disorder characterized by acantholysis and abnormal keratinization. The gene responsible for DD, ATP2A2 encodes for the sarco/endoplasmic reticulum (ER) Ca2+-ATPase isoform 2 protein. Involucrin, considered as a marker of terminal epidermal differentiation, could be altered in some keratinization disorders including DD.An immunohistochemical staining using anti-involucrin antibody was carried out on 16 DD patients epidermis. Involucrin staining was compared with biopsies from cutaneous lesions of three healthy individuals and of patients with Hailey-Hailey disease (five cases) and Mal de Meleda (four cases). A semi-quantitative analysis was performed in order to evaluate involucrin immunostaining on the basis of intensity, extension and epidermal distribution. The involucrin expression was examined afterward with confocal laser scanning microscopy.In contrast to normal skin, all DD cases showed premature expression of involucrin in the lower epidermal layers in four cases with a strong labeling in both keratinocytes cell membrane and cytoplasm. Other keratinization disorders share premature expression of involucrin but displayed differences in cytoplasm/cell membrane labeling.DD skin displayed a constant immunohistochemical involucrin pattern characterized by both premature expression and a particular cytoplasmic/cell membrane localization distribution.

Consulter en ligne

Suggestions

Du même auteur

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

Archive ouverte | Charfeddine, Cherine | CCSD

International audience. Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of...

Clinical and Mutational Heterogeneity of Darier Disease in Tunisian Families

Archive ouverte | Bchetnia, Mbarka | CCSD

International audience. Objective: To study the mutation spectrum and phenotype-genotype correlation of Darier disease (DD) in Tunisian patients. Design: Case series. Setting: Referral center: Department of Dermatol...

Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart Syndrome.

Archive ouverte | Bouyacoub, Yosra | CCSD

International audience. Tyrosinemia type II, also designated as oculocutaneous tyrosinemia or Richner-Hanhart syndrome (RHS), is a very rare autosomal recessive disorder. In the present study, we report clinical fea...

Chargement des enrichissements...