Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.

Successful Treatment of Severe Atopic Dermatitis with Calcitriol and Paricalcitol in an 8-Year-Old Girl.

Atopic dermatitis (AD) is a chronic inflammatory disease affecting children and adolescence. The traditional therapeutic options for AD, including emollients topically and immune modulatory agents systemically focusing on reducing skin inflammation and restoring the function of the epidermal barrier, are proven ineffective in many cases. Several studies have linked vitamin D supplementation with either a decreased risk to develop AD or a clinical improvement of the symptoms of AD patients. In this report, we present a girl with severe AD who under adequate supplementation with cholecalciferol was treated with calcitriol and subsequently with paricalcitol. She had significant improvement-almost healing of her skin lesions within 2 months, a result sustained for more than 3 years now. Because of hypercalciuria as a side effect from calcitriol therapy, treatment was continued with paricalcitol, a vitamin D analogue used in secondary hyperparathyroidism in chronic kidney disease. Calcitriol therapy may be considered as a safe and efficacious treatment option for patients with severe AD, particularly for those with refractory AD, under monitoring for possible side effects. Treatment with paricalcitol resolves hypercalciuria, is safe, and should be further investigated as an alternative treatment of atopic dermatitis and possibly other diseases of autoimmune origin.

Childhood and adolescent psoriasis in Greece: a retrospective analysis of 842 patients.

BACKGROUND: Childhood and adolescent psoriasis is not an uncommon disease, but epidemiological information from a large series of studies is still lacking. OBJECTIVE: Our purpose was to present the demographics, clinical features, and outcome of psoriasis appearing in Greek patients from infants up to adolescents. METHODS: We conducted a retrospective analysis of 842 children and adolescents who diagnosed with psoriasis over a period of twenty years. RESULTS: The mean age of psoriasis onset was 7.33 years, and the sex distribution was equal between boys and girls. Plaque-type psoriasis was the most frequent type (82.1%), followed by perianal, inverse, and guttate. The limbs and the scalp were the main body areas affected. The affected body surface area (BSA) was more than 10% in only 1.7% of patients, and the overall disease manifestations were considered to be mild. Psoriatic nails were detected in 11.8% of patients, while psoriatic arthritis in only six (0.7%) patients. An additional autoimmune disease was present in 3.8% of patients, and 16.7% had a positive family history for first-degree relatives. The main choice of therapy was topical treatment. CONCLUSION: Gender distribution, type of psoriasis, and body area affection is almost the same as in adults. Most of the patients presented with mild disease of little extent, possibly indicating the favorable effect of sun in a Mediterranean country. The most often prescribed treatment for the majority of patients was topical.