Articles

Breast cancer in a young woman with short stature: Which diagnosis not to miss

BJMO - volume 16, issue 4, june 2022

L. Depauw MD, J. Michielsen , K. Storm MSc, K. Forceville MD, N. Degrieck MD, S. Altintas MD, PhD, F. Lockefeer MD, J. van den Ende MD, K. Janssens MD

SUMMARY

This article presents the case report of a 27-year old woman with a triple-negative ductal adenocarcinoma and distinct physical features, in whom Bloom syndrome was diagnosed. Bloom syndrome, a rare autosomal recessive genetic disorder caused by biallelic mutations in the BLM gene, is associated with a markedly increased risk of developing a variety of cancers at a young age (most commonly leukaemia, lymphomas and gastrointestinal tract tumours). Other clinical manifestations include proportional growth deficiency, microcephaly, a long narrow face, retro/micrognathia, photosensitive erythematous rash, endocrine disorders and fertility problems. The potentially life-threatening consequences of Bloom syndrome make early detection, diagnosis and thorough multidisciplinary follow-up of patients with this disease an essential matter.

(BELG J MED ONCOL 2022;16(4):191–5)

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