- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: PCS. Frequency: 3/4. (PMID:34999892)
- Pigment incontinence (HP:0034572): A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation. Evidence: PCS. Frequency: 1/2. (PMID:34999892)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/4. (PMID:34999892)
- Acrokeratosis (HP:0200016): Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. Evidence: PCS. Frequency: 4/4. (PMID:34999892)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/4. (PMID:34999892)
- Mottled pigmentation (HP:0001070): Patchy and irregular skin pigmentation. Evidence: PCS. Frequency: 4/4. (PMID:34999892)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 2/4. (PMID:34999892)
- 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:34999892)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 4/4. (PMID:34999892)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 1/4. (PMID:34999892)
- Poikiloderma (HP:0001029): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: PCS. Frequency: 4/4. (PMID:34999892)
These phenotypes are associated with the disease inflammatory poikiloderma with hair abnormalities and acral keratoses (OMIM:620199).