- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/3. (PMID:21412258)
- Perifolliculitis (HP:0012322): Inflammation surrounding hair follicles. Evidence: IEA. (OMIM:613736)
- Squamous cell carcinoma (HP:0002860): The presence of squamous cell carcinoma of the skin. Evidence: IEA. (OMIM:613736)
- Acne inversa (HP:0040154): A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. Evidence: PCS. Frequency: 3/3. (PMID:21412258)
- Chronic furunculosis (HP:0011132): A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. Evidence: PCS. Frequency: 3/3. (PMID:21412258)
- Recurrent cutaneous abscess formation (HP:0100838): An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. Evidence: PCS. Frequency: 3/3. (PMID:21412258)
- Follicular hyperkeratosis (HP:0007502): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: IEA. (OMIM:613736)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:20929727)
These phenotypes are associated with the disease acne inversa, familial, 2 (OMIM:613736).