- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: PCS. Frequency: 1/4. Onset: Congenital onset (HP:0003577). (PMID:7539673)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:167210)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. (OMIM:167210)
- Folliculitis (HP:0025084): Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. Evidence: TAS. (OMIM:167210)
- Angular cheilitis (HP:0030318): A type of inflammation of the lips involving one or both of the corners of the mouth. Evidence: PCS. (PMID:7539673)
- Dry hair (HP:0011359): Hair that lacks the luster (shine or gleam) of normal hair. Evidence: IEA. (OMIM:167210)
- Subungual hyperkeratosis (HP:0008392): A thickening of the stratum corneum in the region beneath the nails. Evidence: IEA. (OMIM:167210)
- Epidermoid cyst (HP:0200040): Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present. Evidence: PCS. Frequency: 4/4. (PMID:7539673)
- Steatocystoma multiplex (HP:0012035): Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). Evidence: PCS. (PMID:9618173)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: PCS. (PMID:7539673)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: IEA. (OMIM:167210)
- Palmoplantar hyperhidrosis (HP:0007410): An abnormally increased perspiration on palms and soles. Evidence: IEA. (OMIM:167210)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: PCS. Frequency: 4/4. (PMID:7539673)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 4/4. (PMID:7539673)
- Oral leukoplakia (HP:0002745): A thickened white patch on the oral mucosa that cannot be rubbed off. Evidence: PCS. Frequency: 0/4. (PMID:7539673)
- 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:7539673)
These phenotypes are associated with the disease pachyonychia congenita 2 (OMIM:167210).