Mutations in genes encoding for desmosomal components are associated with a broad spectrum of phenotypes comprising skin and hair abnormalities and account for 45-50% of cases of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 dominant and recessive desmoplakin (DSP) gene mutations have been reported to be associated with skin, hair and/or heart defects. Here we report on 3 cases with yet unreported DSP mutations, c.7566_7567delAAinsC, p.R2522Sfs*39, c.7756C>T, p.R2586*, c.2131_2132delAG and c.1067C>A, p.T356K, that were associated with variable woolly hair or hypotrichosis, palmoplantar keratoderma, and cardiac manifestations. In addition, we review and summarise the clinical features and DSP mutations of the patients described in the literature, which illustrates the complexity of this group of disorders and of their genotype-phenotype correlations, which cannot be easily predicted. Early diagnosis is crucial and cardiac examinations have to be performed on a regular basis.

Bowen's disease is a neoplastic skin disease, known as squamous cell carcinoma in situ. The treatment options for Bowen's disease are: cryotherapy, curettage, surgery, topical therapy and radiotherapy. In the past recent years, photodynamic therapy was used as a new treatment method. The purpose of this paper is to summarize the results of clinical and research studies with respect to the photodynamic therapy of Bowen's disease. A search of three databases was conducted using specific keywords and explicit inclusion and exclusion criteria for the study of photosensitizers, light sources and their efficacy in photodynamic therapy of Bowen's disease. Two photosensitizers have been used mainly for photodynamic therapy of Bowen's disease therapy: δ-aminolevulinic acid and methyl aminolevulinate. These photosensitizers have been activated with both coherent (lasers) and non-coherent (lamps and LEDs) light sources. Fluence has been set in a large domain (10-240 J/cm(2)) and irradiance was 0.23-100 mW/cm(2). All these light sources have the same efficacy. The high response rates were obtained using methyl aminolevulinate and light emitting diode as light source. These results have demonstrated that photodynamic therapy using methyl aminolevulinate as photosensitizer could be considered as one of the first therapeutic options for Bowen' disease.

Background: Also known as papulopustular dermatitis (chronic form), rosacea-like dermatitis, periorificial dermatitis, or airhostess’ dermatitis, perioral dermatitis is a commonly encountered dermatological disease, especially in adult women and less frequently in children. Its diagnosis and treatment are a challenge especially in small children. Case report: We present the case of a 2-year-old girl referred to the dermatologist for widespread erythematous papules, vesicles, and pustules on the perioral area, nasolabial folds, and on the outer region of the lower eyelids. Several diagnoses had been established during the previous months: impetigo, atopic dermatitis, seborrheic dermatitis, allergic contact dermatitis, childhood rosacea, demodecidosis, infantile acne, and variable therapeutic approaches had been tried, with no clinical improvement. Clarithromycin 250 mg/day orally associated with the application of 2% erythromycin solution were successfully used. Conclusion: This case highlights the importance of the clinical diagnosis of perioral dermatitis in young children, of excluding other diagnoses and worthless treatments, and also the chronic evolution of the disease and its individualized treatment.

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