- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. (OMIM:105250)
- Lichenification (HP:0100725): Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. Evidence: PCS. Frequency: 16/16. Onset: Childhood onset (HP:0011463). (PMID:18179886)
- Cutaneous amyloidosis (HP:0012309): The presence of amyloid deposition in the superficial dermis. Evidence: PCS. Frequency: 16/16. (PMID:18179886)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 16/16. (PMID:18179886)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. (OMIM:105250)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: 16/16. (OMIM:105250)
- 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:18179886)
These phenotypes are associated with the disease amyloidosis, primary localized cutaneous, 1 (OMIM:105250).