A 16-Year-Old Girl With Melanocytic Nevi: Osmosis USMLE Study Question

July 23, 2021

This patient has "https://emedicine.medscape.com/article/949681-overview">Turner syndrome. Turner syndrome is a common genetic condition that almost exclusively presents in females. Patients with Turner syndrome only have one functional X chromosome; the other chromosome may be absent or altered. Infertility, failure to develop secondary sexual characteristics in adolescence and short stature develop in most patients. Lymphedema causes many of the other features and is likely the explanation for the girl's webbed neck.

Dermatologic manifestations of Turner syndrome include neck webbing, highly curved nails on the fingers and toes, multiple melanocytic nevi (as in this patient), and others. Furthermore, these patients are at increased risk for alopecia areata and vitiligo, which may explain the "pale patches" in the vignette.

Major Takeaway: Common skin findings in Turner syndrome include neck webbing, highly curved nails on the fingers and toes and multiple melanocytic nevi. Patients with Turner syndrome only have one functional X chromosome

Read more on Turner syndrome.

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