What are the symptoms of Epidermolysis bullosa simplex, generalized ?
What are the signs and symptoms of Epidermolysis bullosa simplex, generalized? Epidermolysis bullosa simplex, generalized is associated with widespread blisters that appear at birth or in early infancy. While not a common feature of this type of epidermolysis bullosa, scarring may occasionally occur. There may also be mild involvement of the mucous membranes, fingernails and toenails. As individuals age, localized thickening of the skin on the soles of the feet and palms of the hands may occur.   The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, generalized. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Subcutaneous hemorrhage 90% Abnormal pattern of respiration 50% Abnormality of dental enamel 50% Abnormality of the nail 50% Hyperhidrosis 50% Ophthalmoparesis 50% Palmoplantar keratoderma 50% Ptosis 50% Fatigable weakness 7.5% Respiratory insufficiency 7.5% Milia 5% Nail dysplasia 5% Nail dystrophy 5% Autosomal dominant inheritance - Palmoplantar hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.