Clinical, histological and genetic investigation of Buschke–Fischer–Brauer's disease in Tunisian families

Bchetnia, Mbarka; Charfeddine, Chérine; Kassar, Selma; Hanchi, Imen; Guettiti, Haifa Tounsi; Rebai, Ahmed; Osman, Amel Dhahri-Ben; Kubisch, Christian; Abdelhak, Sonia; Boubaker, Samir; Mokni, M.

doi:10.1016/j.jdermsci.2008.11.008

Cited by 8 publications

(9 citation statements)

References 7 publications

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“…y: year. Pedigree PPK 1 to PPK 5 have been reported previously (Bchetnia et al). (b) Genomic DNA sequencing results of AAGAB gene in PPK Tunisian families.…”

Section: Resultssupporting

confidence: 56%

“…We report here, on clinical and molecular investigation of PPPK‐BFB in eight Tunisian families including 18 patients. A genetic linkage to the 15q22–15q24 interval encompassing the disease locus was previously reported by our study group for some of these patients …”

Section: Introductionsupporting

confidence: 68%

“…Eight Tunisian families with a confirmed diagnosis of PPPK‐BFB were included in this study. The pedigrees of PPK1‐5 were previously documented in a published genetic study . Three additional families designed PPK6, PPK7 and PPK8 were included: six were from the Northern region, one from Central region and one from Southern region of Tunisia.…”

Section: Methodsmentioning

confidence: 99%

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Clinical and molecular investigation of Buschke‐Fischer‐Brauer in consanguineous Tunisian families

Charfeddine

Laroussi

Hammami

et al. 2016

Acad Dermatol Venereol

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“…y: year. Pedigree PPK 1 to PPK 5 have been reported previously (Bchetnia et al). (b) Genomic DNA sequencing results of AAGAB gene in PPK Tunisian families.…”

Section: Resultssupporting

confidence: 56%

Section: Introductionsupporting

confidence: 68%

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Clinical and molecular investigation of Buschke‐Fischer‐Brauer in consanguineous Tunisian families

Charfeddine

Laroussi

Hammami

et al. 2016

Acad Dermatol Venereol

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“…2d). When we superposed our findings with those of Gao et al [6] after correction and Bchetnia et al [9] with a 4.824 Mb and is flanked by D15S153 and D15S131.…”

supporting

confidence: 60%

Reduction of palmoplantar keratoderma Buschke–Fischer–Brauer locus to only 0.967Mb

Mamaï

Boussofara

Adala

et al. 2012

Journal of Dermatological Science

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“…Worsening of papules upon exposure to water is a typical feature. 91 Unusual associations, such as familial occurrence of sensorineural hearing loss and ichthyosis vulgaris, 94 congenital hip dysplasia 95 and nail dystrophy, 90 have also been described. Monoallelic mutations have been described in the AAGAB gene encoding for the alpha-and gamma-adaptin-binding protein p34.…”

Section: Other Patterns Of Palmoplantar Keratodermasmentioning

confidence: 99%

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Guerra

Castori

Didona

et al. 2018

Acad Dermatol Venereol

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The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the epidermis of palms and soles and includes genetic as well as acquired conditions. We review the nosology of hereditary PPKs that comprise an increasing number of entities with different prognoses, and a multitude of associated cutaneous and extracutaneous features. On the basis of the phenotypic consequences of the underlying genetic defect, hereditary PPKs may be divided into the following: (i) non-syndromic, isolated PPKs, which are characterized by a unique or predominant palmoplantar involvement; (ii) non-syndromic PPKs with additional distinctive cutaneous and adnexal manifestations, here named complex PPKs; (iii) syndromic PPKs, in which PPK is associated with specific extracutaneous manifestations. To date, the diagnosis of the different hereditary PPKs is based mainly on clinical history and features combined with histopathological findings. In recent years, the exponentially increasing use of next-generation sequencing technologies has led to the identification of several novel disease genes, and thus substantially contributed to elucidate the molecular basis of such a heterogeneous group of disorders. Here, we focus on hereditary non-syndromic isolated and complex PPKs. Syndromic PPKs are reviewed in the second part of this 2-part article, where other well-defined genetic diseases, which may present PPK among their phenotypic manifestations, are also listed and diagnostic and therapeutic approaches for PPKs are summarized.

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Clinical, histological and genetic investigation of Buschke–Fischer–Brauer's disease in Tunisian families

Cited by 8 publications

References 7 publications

Clinical and molecular investigation of Buschke‐Fischer‐Brauer in consanguineous Tunisian families

Clinical and molecular investigation of Buschke‐Fischer‐Brauer in consanguineous Tunisian families

Reduction of palmoplantar keratoderma Buschke–Fischer–Brauer locus to only 0.967Mb

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

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