Dermatological Concerns for Women and Girls With Turner Syndrome

INTRODUCTION: Turner syndrome (TS) is associated with distinct manifestations in women and girls including short stature, cardiac abnormalities, premature ovarian failure as well as dermatological features, including lymphedema, keloids, onychodystrophy, and acne. Although many dermatological concerns present during the first few decades of life, the overwhelming majority of respondents are not provided with dermatology referrals at diagnosis. METHODS: This cross-sectional study utilized an author designed survey to assess self-reported dermatological manifestations, dermatology referral experience, common therapies for select dermatological conditions, as well as a validated 10-question Dermatology Life Quality Index (DLQI) to assess quality-of-life impact in women and girls with Turner syndrome. RESULTS: In our cohort, 64% ( DISCUSSION: Our data reveal that skin conditions are highly prevalent in the TS population during the early decades of life and affirm utilizing these conditions in the TS diagnostic process, as well as emphasize the need for specialized dermatology referrals to address the detrimental impacts related to skin concerns on quality of life

Dermatological concerns for women and girls with Turner syndrome

Turner syndrome (TS) is associated with distinct manifestations in women and girls involving many mesoderm-derived body systems, including endocrine, cardiovascular, lymphatic, and renal. Many TS signs and symptoms may go undetected until teenage years or later. Non-mesoderm-derived manifestations of dermatological nature, which are just as common as other features of TS, but often present either at birth or soon after, can aid in earlier detection and impact clinical management. The main objective of this study was to determine self-reported prevalence of various dermatological manifestations in a sample of women and girls with TS. We created a six-part questionnaire that included demographic information, dermatology referral experience, impact on quality of life, dermatological manifestation history, special issues in growth hormone therapy, and family history. We analyzed 241 responses from the UTHealth TS registry, TS Society of the United States, and TS social media groups. Although many dermatological concerns present during the first few decades of life, the overwhelming majority of respondents are not provided with dermatology referrals at diagnosis and/or available treatment methods. Some conditions like dry skin, lymphedema, vitiligo, abnormal nails, and history of skin biopsy due to a suspicion for skin cancer were especially predictive of deleterious impact on quality of life. Our data reveal that many skin conditions are highly prevalent in the TS population during the early decades of life and affirm utilizing these conditions in the TS diagnostic process, as well as indicate the need for specialized dermatology referrals to address detrimental quality of life impacts related to skin concerns