Genetic and rare skin diseases.

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• MEHMET KOÇAK

Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions. A major gene locus for PLS has been mapped to a 2.8 cM interval on chromosome 11q14. Correlati…

• HALİL ERHAN FIRATLI

OBJECTIVE: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients. DESIGN: Multicenter, retrospective, questionnaire-based survey. SETTING: Dermatology research institute. PARTICIPANTS: Patients with harlequin ichthyosis for whom we had per…

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• BEYHAN TÜYSÜZ

BACKGROUND: The purpose of this study was to describe the epidemiological and clinical features, course, response to treatment, and prognosis of pemphigus in the Mediterranean region of Turkey. METHODS: All patients with confirmed pemphigus were prospectively enrolled in two major dermatology departments in the cities…

• MURAT DURDU

BACKGROUND: The purpose of this study was to describe the epidemiological and clinical features, course, response to treatment, and prognosis of pemphigus in the Mediterranean region of Turkey. METHODS: All patients with confirmed pemphigus were prospectively enrolled in two major dermatology departments in the cities…

• SONER UZUN

BACKGROUND: The purpose of this study was to describe the epidemiological and clinical features, course, response to treatment, and prognosis of pemphigus in the Mediterranean region of Turkey. METHODS: All patients with confirmed pemphigus were prospectively enrolled in two major dermatology departments in the cities…

• ERKAN ALPSOY

BACKGROUND: The purpose of this study was to describe the epidemiological and clinical features, course, response to treatment, and prognosis of pemphigus in the Mediterranean region of Turkey. METHODS: All patients with confirmed pemphigus were prospectively enrolled in two major dermatology departments in the cities…

• AYŞE AKMAN

This is the twenty-three of a series of reports of chromosomes numbers from Mediterranean area, peri-Alpine communities and the Atlantic Islands, in English or French language.

• GÜLAY ECEVİT GENÇ

BACKGROUND: Rituximab and mycophenolate mofetil are used to treat pemphigus vulgaris, but they have not been adequately compared in clinical trials. METHODS: In a randomized, controlled trial, we assigned patients with moderate-to-severe pemphigus vulgaris in a 1:1 ratio to receive intravenous rituximab (1000 mg on da…

• SONER UZUN

BACKGROUND: Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described to date, only one missense mutation has been reported and all others are predicted to be truncating mutations. G…

• HÜLYA KAYSERİLİ KARABEY

BACKGROUND: Encouraging results of previous uncontrolled trials suggest that calcipotriol may potentiate the efficacy of psoralen plus ultraviolet (UV) A (PUVA) therapy in patients with vitiligo. OBJECTIVES: We performed a placebo-controlled double-blind study to investigate whether the effectiveness of PUVA treatment…

• ERKAN ALPSOY