Phenotypes associated with the disease epidermolysis bullosa simplex 6, generalized, with scarring and hair loss (OMIM:617294):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:27889062)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: PCS. Frequency: 14/14. (PMID:27889062)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 7/14. (PMID:27889062)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: TAS. (OMIM:617294)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: PCS. Frequency: 5/5. (PMID:27798626)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: PCS. Frequency: 14/14. Onset: Congenital onset (HP:0003577). (PMID:27889062)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: PCS. Frequency: 14/14. (PMID:27889062)
- Alopecia of scalp (HP:0002293). Evidence: PCS. Frequency: 1/5. Onset: Young adult onset (HP:0011462). (PMID:27798626)
- Onychogryphosis of toenails (HP:0008401): Thickened toenails. Evidence: PCS. Frequency: 8/14. (PMID:27889062)
- Diffuse palmoplantar hyperkeratosis (HP:0007447): Diffuse abnormal thickening of the skin on the palms and soles. Evidence: PCS. Frequency: 15/15. (PMID:27889062;PMID:27798626)
- 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:27798626)
- Dystrophic toenail (HP:0001810): Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. (PMID:27798626)