Sporadic Kerathoacantomas in Young Patients: A Case Series and a Proposed Diagnostic AlgorithmQueratoacantomas esporádicos en pacientes jóvenes: serie de casos y propuesta de algoritmo diagnóstico

Nov. 19, 2021

We sought to describe the clinical-epidemiological characteristics and associated
genetic disorders of young patients with KAs in our centers, and to develop a
diagnostic algorithm. We describe three patients who developed KAs before age 40
and who harbored unrecognized genetic diseases predisposing to these cutaneous
Patient 1 was a 54-year-old male with no relevant family history and a personal history
of intense sunlight exposure who had had more than ten KAs since age 39. He
developed growing centrifugal lesions on the left forearm after radiotherapy for a
solitary KA. The lesions were clinically and histologically suggestive of
keratoacanthoma marginatum centrifugum (KMC) (Fig. 1). No loss of MMR
immunohistochemical markers was observed in the tumors, and the lesions were
successfully treated with intralesional 5-fluorouracil and oral retinoids. A screen
analysis of the TGFBR1 gene and a likely pathogenic c.301 T>C heterozygous variant
was detected.
Patient 2 was an otherwise healthy 38-year-old male who developed a rapidly growing
KA measuring 13 mm on the nose. His father had died at age 53 after developing

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