Question: What is (are) Olmsted syndrome ?
Answer: Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white thickened patches around the anus and mouth; and sparse hair. It may be complicated by multiple infections and squamous cell carcinoma. Olmstead syndrome is caused by mutations in the TRPV3 gene. It is transmitted through autosomal dominant inheritance. Treatment includes oral and topical retinoids, such as acetretin.
Source: GARD

Question: What are the symptoms of Olmsted syndrome ?
Answer: What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted syndrome. 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) Abnormality of the fingernails 90% Hypohidrosis 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Abnormality of bone mineral density 50% Carious teeth 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Skin ulcer 50% Alopecia 7.5% Melanoma 7.5% Neoplasm of the lung 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Seizures 7.5% Alopecia universalis 5% Corneal opacity 5% Hyperhidrosis 5% Opacification of the corneal stroma 5% Sparse hair 5% Autosomal dominant inheritance - Flexion contracture - Nail dysplasia - Nail dystrophy - Parakeratosis - Pruritus - Subungual 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.
Source: GARD