What are the symptoms of Lipoid proteinosis of Urbach and Wiethe ?
What are the signs and symptoms of Lipoid proteinosis of Urbach and Wiethe? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoid proteinosis of Urbach and Wiethe. 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% Abnormality of the eye 90% Abnormality of the voice 90% Acne 90% Atypical scarring of skin 90% Pustule 90% Thick lower lip vermilion 90% Abnormal hair quantity 50% Aplasia/Hypoplasia of the tongue 50% Feeding difficulties in infancy 50% Hyperkeratosis 50% Recurrent respiratory infections 50% Verrucae 50% Cerebral calcification 7.5% Nasal polyposis 7.5% Seizures 7.5% Abnormality of the skin - Aggressive behavior - Autosomal recessive inheritance - Bilateral intracranial calcifications - Hallucinations - Hoarse voice - Memory impairment - Paranoia - Patchy alopecia - 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.