A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.

We report a 2-year-old patient with Netherton syndrome presenting with generalized exfoliative erythroderma, ichthyosiform dermatitis, trichorrhexis invaginata, hypernatremic dehydration, failure to thrive, and recurrent respiratory infections. Molecular analysis of SPINK5 identified a novel mutation (c.1530CA). Our case report also verifies and supports the safety and efficacy of subcutaneous immunoglobulin substitution in chronic generalized skin disorders associated with primary immunodeficiencies such as Netherton syndrome.

Beneficial effects of an alkaline topical treatment in patients with mild atopic dermatitis.

BACKGROUND: Atopic dermatitis (AD) is the most common cause of eczema. The skin condition affects millions of people worldwide. Severe cases of AD demand systemic treatment, but most AD cases rely on local therapy with topical corticosteroids, emollients, and moisturizing agents to alleviate eczema. Commonly, derma-cosmetics with a pH around 5.5 are used to treat eczematous lesions (EL). However, evidence is currently amassing that the use of mildly alkaline topical creams is beneficial for AD-related eczema treatment because of its effect on the inflammation in the skin. AIMS: To test an alkaline two-phase care concept for the treatment of eczema. PATIENTS/METHODS: An open-label study of 25 patients with eczema associated with mild AD. Patients were treated with Alkaline Build Up Caring Cream INTENSIVE and Alkaline Build Up Caring Cream PLUS+ (both Siriderma® ) for eight weeks. Dermatological, biochemical, and questionnaire-based examinations were conducted prior to the trial and after its completion. RESULTS: Topical administration of slightly alkaline creams led to small and statistically insignificant increases of skin pH. Clinical examination at the end of the observation period revealed a significant decrease of total eczematous-affected skin area, a significant decrease in average severity scores of EL, and significant improvements in patient-reported outcome parameters. Blood tests did not reveal any significant changes, except for small but significant increases in IL-8 and monocytes. CONCLUSION: Mildly alkaline topical creams seem to provide soothing effects on eczema-related skin inflammation and thus might contribute to treatment of local symptoms of eczema in patients with mild AD.

The Value of High-frequency 20 MHz Ultrasonography for Preoperative Measurement of Cutaneous Melanoma Thickness.

High-frequency ultrasonography has become an important diagnostic tool in dermatovenerology. It is used for assessment of the cutaneous layers in diverse benign and malignant skin lesions and diseases. Herein we present the practical value of preoperative measurement of cutaneous melanoma thickness, the explanation of the possible reasons for different sonographic and histologic Breslow thickness, and the practical importance of high-frequency 20 MHz ultrasonography in preoperative measurements of cutaneous melanoma thickness. Fifty patients (31 women aged 41.6±15.4 years, 19 males aged 54.5±11.4 year (mean ± Standard Deviation) were examined in the Skin Cancer Clinic from January 2014 to December 2015. Suspected cutaneous melanomas were investigated with skin ultrasound Dermascan C (Cortex Technology, Denmark) before surgical removal. The Breslow thickness of cutaneous melanomas was analyzed by precise pathological examination after extirpation. Statistical analysis revealed a significant positive correlation between ultrasonographic melanoma thickness and Breslow thickness (r=0.92, P<0.001). The mean thickness of invasive tumors evaluated by high frequency ultrasonography was 6.77 % higher compared with the mean Breslow thickness. The high-frequency ultrasonography provides a sensitive, noninvasive and reproducible method of skin evaluation, which enables objective visualization in vivo, providing valuable information, especially about cutaneous melanoma. The results of our study indicate that high frequency ultrasonography may be a useful adjunctive tool in the evaluation of cutaneous melanoma in daily practice.