TY - JOUR
T1 - Incontinentia pigmenti in adults
AU - Scheuerle, Angela E.
N1 - Funding Information:
The author appreciates Dr. Mathilde Valeria Ursini for sharing the clinical IP questionnaire from the Italian ASSociation of Incontinentia Pigmenti (IPASSI, [http://www.incontinentiapigmenti.it/] and the moderators and members of the Incontinentia Pigmenti Family Support Facebook group. Data available on request from the authors. Study data were collected and managed using REDCap electronic data capture tools hosted at University of Texas Southwestern Medical Center (Harris et al.,). REDCap (Research Electronic Data Capture) is a secure, web-based application designed to support data capture for research studies, providing 1) an intuitive interface for validated data entry; 2) audit trails for tracking data manipulation and export procedures; 3) automated export procedures for seamless data downloads to common statistical packages; and 4) procedures for importing data from external sources. Internally funded, no associated grant.
Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/8
Y1 - 2019/8
N2 - Incontinentia Pigmenti (IP; MIM 308300) is an X-linked dominant genodermatosis caused by pathogenic variant in IKBKG. The phenotype in adults is poorly described compared to that in children. Questionnaire survey of 99 affected women showed an age at diagnosis from newborn to 41 years, with 53 diagnosed by 6 months of age and 30 as adults. Stage I, II, and III lesions persisted in 16%, 17%, and 71%, respectively, of those who had ever had them. IP is allelic to two forms of ectodermal dysplasia. Many survey respondents reported hypohidrosis and/or heat intolerance and most had Stage IV findings. This suggests that “Stage IV” may be congenitally dysplastic skin that becomes more noticeable with maturity. Fifty-one had dentures or implants with 26 having more invasive jaw or dental surgery. Half had wiry or uncombable hair. Seventy-three reported abnormal nails with 27 having long-term problems. Cataracts and retinal detachment were the reported causes of vision loss. Four had microphthalmia. Respondents without genetic confirmation of IP volunteered information suggesting more involved phenotype or possibly misassigned diagnosis. Ascertainment bias likely accounts for the low prevalence of neurocognitive problems in the respondents.
AB - Incontinentia Pigmenti (IP; MIM 308300) is an X-linked dominant genodermatosis caused by pathogenic variant in IKBKG. The phenotype in adults is poorly described compared to that in children. Questionnaire survey of 99 affected women showed an age at diagnosis from newborn to 41 years, with 53 diagnosed by 6 months of age and 30 as adults. Stage I, II, and III lesions persisted in 16%, 17%, and 71%, respectively, of those who had ever had them. IP is allelic to two forms of ectodermal dysplasia. Many survey respondents reported hypohidrosis and/or heat intolerance and most had Stage IV findings. This suggests that “Stage IV” may be congenitally dysplastic skin that becomes more noticeable with maturity. Fifty-one had dentures or implants with 26 having more invasive jaw or dental surgery. Half had wiry or uncombable hair. Seventy-three reported abnormal nails with 27 having long-term problems. Cataracts and retinal detachment were the reported causes of vision loss. Four had microphthalmia. Respondents without genetic confirmation of IP volunteered information suggesting more involved phenotype or possibly misassigned diagnosis. Ascertainment bias likely accounts for the low prevalence of neurocognitive problems in the respondents.
KW - IKBKG
KW - Incontinentia Pigmenti
KW - adult
KW - ectodermal dysplasia
KW - phenotype
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U2 - 10.1002/ajmg.a.61205
DO - 10.1002/ajmg.a.61205
M3 - Article
C2 - 31119873
AN - SCOPUS:85066846799
SN - 1552-4825
VL - 179
SP - 1415
EP - 1419
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 8
ER -