Does Turner Syndrome Impact Dermatological Health and Quality of Life?

🔍 Key Finding Skin conditions are highly prevalent in individuals with Turner Syndrome (TS), often starting in the first decade of life, and several, including xerosis cutis, lymphedema, and onychodystrophy, negatively impact quality of life, highlighting the need for routine dermatology referrals for this population. Moreover, while increased acquired melanocytic nevi are common in TS, the prevalence of skin cancer is lower than the general population, suggesting a potential protective effect.

🔬 Methodology Overview

• Design: Cross-sectional study using an author-designed survey.
• Participants: Females with a clinical and genetic confirmation of Turner Syndrome (TS). Participants under 18 years old had surveys completed by a parent or guardian.
• Recruitment: UTHealth Turner Syndrome Research Registry members, Turner Syndrome Society of the United States (TSSUS) members, and Turner syndrome social media group members.
• Data Collection: Electronic surveys distributed via email/phone call (for registry members) and anonymous Qualtrics survey links (for TSSUS and social media groups).
• Survey Content: Demographics, referral experience to dermatologists, self-reported dermatological manifestations, treatment details, family history of skin conditions, growth hormone therapy experience, and Dermatology Life Quality Index (DLQI).
• Statistical Analysis: Descriptive statistics, Z-test proportion tests, t-tests, Chi-squared analysis, Fischer’s exact analysis, and multivariate tests of means. Linear regression was used to assess the relationship between xerosis cutis and quality of life.

📊 Results

• Dermatology Referrals: 64% (n=149) of participants reported being referred to a dermatologist at some point, with the majority (79.6%) self-identifying their dermatological concern and 90.2% being referred after a concern arose. Only 9.8% were referred at the time of TS diagnosis.
• Prevalence of Skin Conditions: Xerosis cutis (dry skin) was the most common (78.7%), followed by lymphedema (33%), and more than 20 acquired melanocytic nevi (70%).
• Quality of Life Impact: The mean Dermatology Life Quality Index (DLQI) score was 3.52, indicating a small effect on quality of life. Onychodystrophy, history of skin biopsy, and lymphedema were significantly associated with a higher DLQI score.
• Growth Hormone Therapy: Two-thirds (n=144) reported using growth hormone therapy, with 23.8% expressing concerns about increased nevi, 19.4% about excess hair growth, and 23.8% about swelling as side effects.
• Skin Cancer: A personal history of skin cancer was reported by 8.8% of participants, which is lower than the general population frequency of approximately 20%. Nearly 90% of those with skin cancer also reported having more than 20 acquired melanocytic nevi.
• Treatment Gaps: A significant portion of participants with lymphedema (54.8%), alopecia areata (26.7%), and vitiligo (61%) reported not receiving treatment for these conditions.

💡 Clinical Impact Dermatological manifestations are highly prevalent in Turner syndrome, necessitating routine dermatology referrals at diagnosis to address quality-of-life impacts and potentially aid in earlier diagnoses, especially in mosaic cases. This reinforces the need for updated clinical guidelines to include routine dermatological care and specific treatment recommendations for common skin findings in Turner syndrome.

🤔 Limitations

• Self-report nature of the data includes risk for recall bias.
• Recall bias by respondents regarding their personal experience with the dermatological concerns.
• Lymphedema unexpectedly underreported, which may indicate recall bias due to an average onset during infancy.
• Homogeneity of race and ethnicity introduces limitations to the interpretability of the data to other populations.
• Certain skin conditions may be at higher or lower prevalence based on ethnicity or race alone.

✨ What It Means For You Physicians should be aware of the high prevalence of skin conditions in Turner Syndrome (TS) and consider these in the diagnostic process. Routine dermatology referrals for TS patients are essential to address the impact of skin concerns on quality of life and to ensure appropriate treatment, particularly for xerosis cutis, lymphedema, and vitiligo. Growth hormone therapy side effects on the skin should also be monitored, and appropriate treatment offered.

Reference Rodriguez-Buritica D, Mones M, Prakash SK, Rivera M, Aldrich M, Rogge M, Richardson K. Dermatological concerns for women and girls with turner syndrome. Frontiers in Medicine. 2023;10:1235187. https://doi.org/10.3389/fmed.2023.1235187