Which of the following is NOT a major feature of Xeroderma Pigmentosum?

Get ready for the American Board of Genetic Counseling exam. Prepare with flashcards and multiple choice questions, each question includes hints and explanations. Ace your exam with confidence!

Xeroderma pigmentosum (XP) is a genetic disorder characterized primarily by an extreme sensitivity to ultraviolet (UV) rays from sunlight, leading to a variety of symptoms related to skin damage and an increased risk for skin cancers. The core features associated with XP include the development of skin cancers, photophobia, sunburn, and pigmentation changes such as freckles, particularly on sun-exposed areas.

The presence of freckling is a significant hallmark of this condition, as individuals often develop numerous freckle-like lesions on their skin. This results from the inability of cells to adequately repair UV-induced DNA damage, which is a fundamental issue in XP.

On the other hand, a marfanoid habitus, which is characterized by features such as tall stature, long limbs, and slender fingers, is more closely associated with other genetic conditions, particularly Marfan syndrome. Importantly, while CNS involvement may occur in some rare cases of XP, it is not a defining characteristic of the disease itself. The major manifestations focus primarily on skin and sun sensitivity, with no significant systemic features aligning with a marfanoid structure.

Thus, because marfanoid habitus is not related to the primary features or symptoms of Xeroderma pigmentosum, it

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