Skin Conditions Commonly Seen in Turner Syndrome

Life with Turner syndrome (TS) means navigating both external and internal medical conditions, one of which includes skin conditions. Consequently, ongoing visits to a dermatologist are usually recommended for the care and treatment for individuals with TS.

In this article, we will review the common skin conditions seen in TS patients and care recommendations.

Melanocytic Nevi

One of the most common skin conditions is Melanocytic nevi, which is the medical term for the common mole. Moles form from melanocytes which are the cells in the skin that make the dark pigment. When these melanocytes grow in clusters (and do not spread out), moles are made. While having moles is completely normal, individuals with TS often develop too many of them naturally.

Melanocytic nevi is commonly seen in young girls and during early adulthood. Its prevalence in TS individuals ranges from 15 to 64%. A study done by Zvulnov et. al (1998) examined the AMN (acquired melanocytic nevi) count of 24 patients with TS treated growth hormone (GH), 24 patients with GH deficiency, and 24 normal females. The key difference discovered in this study was that for the control groups, high exposure to the sun caused a larger AMN count, while for individuals with TS, the high AMN count was influenced by genetic factors rather than sun exposure alone. It is highly recommended that individuals with TS always apply sunscreen before going outdoors.

Halo Nevi

In addition, halo nevi are moles surrounded by an area of depigmentation and resemble halos. This skin condition is found in 18% of individuals with TS. Halo nevus is associated with autoimmunity, and if an individual has one autoimmune condition, they are more likely to develop another. Halo nevi is common among tweens and young adults with TS.

Halo nevi does not have negative effects, but should still be monitored by a doctor or dermatologist. A dermatologist may use a dermascope to ensure that the mole is harmless and it is encouraged that one uses sunscreen (SPF 30+) to reduce any UV-damage, as the areas with halo nevi are highly sensitive.

Pilomatricomas

Another skin condition seen in some with TS is Pilomatricomas, which is a skin tumor that grows from the hair follicle. It is a hard, bumpy nodule or cyst. It usually appears on the head, face, neck or arms and may be painful if touched or pushed. This skin condition is quite rare for those without TS and is prevalent in 2.6% females with TS. It usually appears before the age of 20. Pilomatricomas do not disappear by themselves, therefore if they become irritating or painful, a dermatologist will surgically remove (excise) them.

Vitiligo

Vitiligo is also seen more often in females with TS than the general population. Vitiligo is a skin condition in which areas of the skin lose their color, making those areas look much lighter. Since vitiligo is an autoimmune condition, the immune system mistakenly attacks and damages the body’s own melanocytes (cells responsible for pigment formation).

The risk of an individual with TS getting an autoimmune condition is high, making vitiligo a possible condition. It is present in about 2.7-6% females with TS and is commonly seen in 10-20 year olds.

Keloids

Individuals with TS often undergo surgeries and after some surgical procedures, Keloid scarring may be seen. The most common areas where keloid may show up are mainly the neck, chest, and back. Keloids appear in about 3% of TS individuals and are usually present among 11-20 year olds. Corticosteroid injections are a treatment option for keloids, since they reduce inflammation in a few weeks. Other treatment options include laser therapy or pressure therapy.

Alopecia Areata

Alopecia areata is a condition in which hair loss occurs. Although prevalence in TS individuals is not exactly known, a study conducted by Rodriguez-Buritica et al. (2023) depicts that 7% (15) of the 221 individuals studied had histories of alopecia areata. Alopecia areata is usually found in people whose ages range from 21-30 years old. Similar to keloid formation, alopecia areata has treatment options including corticosteroid injections. However, alopecia may also have the ability to heal from topical ointments in some cases.

Skin Pigmentation Patterns

Skin pigmentation patterns like the Pigmentary Mosaicism (also known as: Hypomelanosis of Ito) cause white patches to appear on the skin. These light patches usually follow certain patterns (Blachko’s lines) on the body which usually look like swirls or waves. Pigmentary mosaicism is extremely rare in mosaic TS individuals (<10 cases reported overall). If present, it is mainly there at birth or early childhood ages (1-2 years old). Although there is not a treatment for this skin condition, a doctor should continuously check such individuals, specifically their ocular (eye) health, neurological health, and skeletal development.

Since TS involves a distinct genetic make-up and differing immune system characteristics, women and girls with TS are more prone to certain skin conditions compared to the general population. Patients should maintain a daily routine that involves sunscreen use and have regular healthcare checkups.

Sources

Zvulunov, A., Wyatt, D. T., Laud, P. W., & Esterly, N. B. (1998). Influence of genetic and environmental factors on melanocytic naevi: A lesson from Turner’s syndrome. The British Journal of Dermatology, 138(6), 993–997. PubMed. https://doi.org/10.1046/j.1365-2133.1998.02265.x
Handler, M. Z., Derrick, K. M., Lutz, R. E., Morrell, D. S., Davenport, M. L., & Armstrong, A. W. (2013). Prevalence of Pilomatricoma in turner syndrome: Findings from a multicenter study. JAMA Dermatol, 149(5), 559–564. https://doi.org/10.1001/2013.jamadermatol.115
De Sanctis, V., & Khater, D. (2019). Autoimmune diseases in turner syndrome: An overview. Acta Biomedica Atenei Parmensis, 90(3), 341–344. https://doi.org/10.23750/abm.v90i3.8737
Rodriguez-Buritica, D., Mones, M., Prakash, S. K., Rivera, M., Aldrich, M., Rogge, M., & Richardson, K. (2023). Dermatological concerns for women and girls with turner syndrome. Frontiers in Medicine, 10, 1235187. https://doi.org/10.3389/fmed.2023.1235187
Capaldi, L., Gray, J., Abuelo, D., Torrelo, A., Nieto, J., Lapidus, C., & Robinson-Bostom, L. (2005). Pigmentary mosaicism and mosaic Turner syndrome. Journal of the American Academy of Dermatology, 52(5), 918–919. https://doi.org/10.1016/j.jaad.2004.11.023