Phenotypes associated with the disease epidermolysis bullosa simplex 5B, with muscular dystrophy (OMIM:226670):
- Milia (HP:0001056): Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. Evidence: IEA. (OMIM:226670)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: IEA. (OMIM:226670)
- Muscle fiber splitting (HP:0003555): Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. Evidence: PCS. Frequency: 1/1. (PMID:8696340)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:8696340)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:226670)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: IEA. (OMIM:226670)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:226670)
- Scarring alopecia of scalp (HP:0004552). Evidence: IEA. (OMIM:226670)
- Punctate keratitis (HP:0011859): A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. Evidence: TAS. (OMIM:226670)
- Muscular dystrophy (HP:0003560): The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. Evidence: TAS. (OMIM:226670)
- Intra-epidermal blistering (HP:0033802): A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. Evidence: PCS. Frequency: 4/4. (PMID:8696340)
- Urethral stricture (HP:0012227): Narrowing of the urethra associated with inflammation or scar tissue. Evidence: TAS. (OMIM:226670)
- Motheaten muscle fibers (HP:0100298). Evidence: PCS. Frequency: 1/1. (PMID:8696340)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:226670)
- 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: 6/6. Onset: Neonatal onset (HP:0003623). (PMID:8696340)
- Increased connective tissue (HP:0009025): The presence of an abnormally increased amount of connective tissue. Evidence: IEA. (OMIM:226670)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: IEA. (OMIM:226670)
- 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:8696340)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: IEA. (OMIM:226670)
- 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: 6/6. Onset: Childhood onset (HP:0011463). (PMID:8696340)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: IEA. (OMIM:226670)
- Increased variability in muscle fiber diameter (HP:0003557): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: PCS. Frequency: 1/1. (PMID:8696340)