- Squamous cell carcinoma of the skin (HP:0006739): Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. Evidence: PCS. Frequency: 1/4. (PMID:28646613)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:28646613)
- Persistent human papillomavirus infection (HP:0020114): Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. Evidence: PCS. (PMID:28646613)
- Verruca plana (HP:0550004): Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. Evidence: PCS. Frequency: 4/4. Onset: Childhood onset (HP:0011463). (PMID:28646613)
These phenotypes are associated with the disease epidermodysplasia verruciformis, susceptibility to, 2 (OMIM:618231).