This is a summary of the results of part 1 of the Skin Conditions Survey.This survey was based previous statements and concerns raised by family members. It is not intended as scientific research but may be helpful to researchers and clinicians in helping to identify areas to explore.
Surveys were completed for 47 individuals with MECP2 Duplication Syndrome from 10 different countries (2 of the 47 were from unidentified countries). Most (40) of these individuals were male and 7 were female. Fourteen were six years old or younger, twenty-one were aged seven to age fifteen, and twelve were sixteen years old or older. The surveys for 43 of the individuals were complete and had usable information for all questions. The other four surveys were incomplete with useful information for some but not all questions.
The following conditions were identified in order from most to least frequent (reporters indicated that they had the following conditions were observed or diagnosed in the following percentages of individuals:
Two other conditions were suggested as possible findings but had no identified instances. These were Erysipelas (0%) and Lupus Rash (0%).
Several other conditions were not presented as options for selection but were included by survey respondents under ‘other’ or ‘comments’. These included cellulitis, blister rash, folliculitis, and heat rash. Most frequent among these was eczema which was mentioned by 7 (15% of) respondents, this would likely have been a higher number if eczema had been listed as a specific response choice.
Episodes of flushing of ears and cheeks have been reported and discussed by numerous families. These are often only on one side but bilateral occurrences have also be described. Episodes of mottled skin on the trunk or limbs had also been frequently mentioned. These generally seem similar to livedo reticularis or cutis marmorata. These and some other findings may suggest issues of temperature regulation or other autonomic function. This was also suggested by the question on perspiration.
Another finding that might suggest problems with temperature regulation was related to perspiration. Although 43% of respondents indicted that the individual with MECP2 Duplication perspired normally, 15% indicated that the affected individual perspired excessively, and 41% indicted that the affected individual perspired less than normal.
Finally, the survey asked about allergic rashes. The largest group (45%) of respondents indicated that the affected individual had not had a rash due to allergies, but 27% indicted that an allergic rash was observed and the remainder 27% were not sure.
Because the number of females in the study was small and the ages spanned a large number of years, the analysis could not detect whether or not there were differences between males and females. While there were some differences among age groups, these were generally unremarkable and similar to what might be expected in the general population.
This survey took a first look at some of the concerns that family members observed. Some additional surveys will follow to clarify some of these reports. Thank you to all the people who took time to complete this survey.