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This clinical letter identifies Rothmund-Thomson syndrome type 2 as a rare cause of chronic wounds, but provides no new experimental findings.

In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.

This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.

This report describes a case of Rothmund-Thomson type congenital poikiloderma, noting minor skin changes, hair loss, and slightly elevated lysine and cystine in the urine.

This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.