Pathogenic variants in the RSPO1 gene (OMIM 609595) have been associated with autosomal recessive palmoplantar keratoderma, genitourinary abnormalities, disorder of sex development (46, XX females developing testicular tissue and other extra‐genital findings), and a predisposition to squamous cell skin carcinoma (Radi et al., 2005; Tomaselli et al., 2008; Tallapaka, Venugopal, Dalal, & Aggarwal, 2018). The gene discussed is RSPO1; the disease is skin squamous cell carcinoma.