Which of the following is NOT a clinical presentation of DKC?

A clinical presentation of Dyskeratosis Congenita (DKC) includes a range of symptoms that are primarily associated with abnormalities in cellular growth and proliferation, particularly affecting the skin, nails, and mucous membranes. Each of the other options listed represents potential manifestations of DKC.

Hyperpigmentation of the skin is indeed a common finding, often seen as mottled pigmentation. Urethral stenosis can occur as part of the broader spectrum of anomalies associated with DKC, reflecting the multi-system involvement of the disorder. Thrombocytopenia is also frequently observed due to bone marrow failure, which is a consequence of the underlying etiological factors of DKC.

In contrast, vascular malformations are not specifically characteristic of DKC. While these may be found in a variety of genetic conditions, they are not a recognized clinical feature associated with DKC. Thus, identifying vascular malformations as not being a clinical presentation aligns with an understanding of DKC’s primary symptoms and manifestations.