Total 53 clinical symptoms reported for Recessive dystrophic epidermolysis bullosa
| Abnormal blistering of the skin |
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Synonyms:Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae |
Very frequent |
| Anemia |
A reduction in erythrocytes volume or hemoglobin concentration.
Synonyms:Anaemia; Low number of red blood cells or hemoglobin |
Very frequent |
| Atrophic scars |
Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
Synonyms:Sunken or indented skin due to damage; Thin, atrophic scars |
Very frequent |
| Carious teeth |
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.
Synonyms:Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay |
Very frequent |
| Chronic pain |
Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.
Synonyms:Chronic pain; Long-lasting pain |
Very frequent |
| Flexion contracture |
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Synonyms:Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints |
Very frequent |
| Fragile skin |
Skin that splits easily with minimal injury.
Synonyms:Fragile skin; Skin fragility |
Very frequent |
| Gastrointestinal inflammation |
Inflammation of the alimentary part of the gastrointestinal system.
Synonyms:Gastrointestinal inflammation; GI inflammation |
Very frequent |
| Growth delay |
A deficiency or slowing down of growth pre- and postnatally.
Synonyms:Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth |
Very frequent |
| Milia |
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Synonyms:Milk spot; Millium cyst |
Very frequent |
| Mitten deformity |
Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a 'mitten' hand deformity.
Synonyms:Pseudosyndactyly |
Very frequent |
| Oral mucosal blisters |
Blisters arising in the mouth.
Synonyms:Blebs of oral mucosa; Blisters of mouth; Bullae of oral mucosa; Oral blistering; Oral mucosal blisters |
Very frequent |