Phenotypes associated with the disease keratosis follicularis spinulosa decalvans, X-linked (OMIM:308800):
- Facial erythema (HP:0001041): Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. (OMIM:308800)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: PCS. (OMIM:308800)
- Scarring alopecia of scalp (HP:0004552). Evidence: PCS. (OMIM:308800)
- Corneal dystrophy (HP:0001131): The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. Evidence: IEA. (OMIM:308800)
- Folliculitis (HP:0025084): Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. Evidence: TAS. (OMIM:308800)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. (OMIM:308800)
- Dystrophic fingernails (HP:0008391): The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. Evidence: PCS. (OMIM:308800)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: IEA. (OMIM:308800)
- Keratosis pilaris (HP:0032152): An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. Evidence: IEA. (OMIM:308800)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:20672378)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. (OMIM:308800)
- Perifollicular fibrosis (HP:0030054): Presence of excess fibrous connective tissue surrounding hair follicules. Evidence: TAS. (OMIM:308800)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. (OMIM:308800)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: PCS. (OMIM:308800)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. (OMIM:308800)
- 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: TAS. (OMIM:308800)
- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: IEA. (OMIM:308800)
- 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: PCS. (OMIM:308800)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. (OMIM:308800)