[Show abstract][Hide abstract] ABSTRACT: Abstract Background: The prevalence of capillary malformations, also known as port-wine stains (PWS), is 0.3%. Familial segregation can occur. The capillary malformation-arteriovenous malformation (CM-AVM) phenotype is caused by mutations in the RASA1 gene. In PWS familial cases, the inheritance is considered to be autosomal dominant with variable penetrance. Objective: Investigation of the heredity of PWS among patients who attended the vascular anomaly section at the department of dermatology in Malmoe, Southern Sweden, between 1993-2004 and to study the involvement of the RASA1 gene in patients with a positive family history of PWS. Subjects and methods: A total of 254 patients were examined and given a questionnaire regarding family history of PWS. The first group of 175 patients (109 females and 66 males) reported a negative family history. The other group of 65 patients (46 females and 19 males) reported a positive family history (50% parents or brothers and sisters). Results: The heredity of PWS was 27 % (65/240). Twenty-one patients with a positive family history and relatives had no CM-AVM phenotype for mutations in the RASA1 gene. Conclusion: PWS may have a stronger heredity component than earlier reported and inheritance should be considered when counselling a patient. RASA1 mutations do not explain the PWS in our patients.
No preview · Article · Jan 2015 · Journal of Cosmetic and Laser Therapy
[Show abstract][Hide abstract] ABSTRACT: It is known that narrowband ultraviolet B (NB-UVB) radiation and oral vitamin D(3) supplementation can both improve serum levels of vitamin D, expressed as 25-hydroxyvitamin D(3) [25(OH)D(3) ]. However, surprisingly few studies have compared the effects of the two interventions in treating vitamin D deficiency.
To compare the effect of NB-UVB exposure with oral vitamin D(3) supplementation on vitamin D levels in patients with vitamin D deficiency.
Seventy-three participants with vitamin D deficiency [25(OH)D(3) ≤ 25 nmol L(-1) ] were consecutively enrolled from February 2010 to May 2011, avoiding the summer period (June to September). The participants were randomized into two groups, one receiving full body NB-UVB exposure three times per week, the other receiving 1600 IU (40 μg) oral vitamin D(3) per day together with 1,000 mg calcium. Thirty-two participants completed the 6-week study period, 16 in each group. In both groups blood samples were obtained at baseline and after 3 and 6 weeks.
We found a significantly greater increase in 25(OH)D(3) levels (mean) in the NB-UVB treated group (from 19·2 to 75 nmol L(-1) ) compared with the oral vitamin D(3) treated group (from 23·3 to 60·6 nmol L(-1) ) after 6 weeks of treatment (P = 0·02), accompanied by a significant decrease in parathyroid hormone for the whole group (from 5·3 to 4·2 pmol L(-1) , P = 0·028).
Full body NB-UVB three times per week is more effective in treating vitamin D deficiency than prescription of a daily oral intake of 1600 IU (40 μg) vitamin D(3) .
No preview · Article · May 2012 · British Journal of Dermatology