Pachydermoperiostosis Disease

About Gene:

Pachydermoperiopstosis is a rare genetic disorder also known as Touraine-Solente-Gole syndrome that is mostly prominent during adulthood, It is mostly characterized by clubbed finger, excessive sweating and thickened skin. It is further classified into 3 types  Complete form which displays all the symptoms( skin thickening, finger clubbing)  Incomplete form, it mostly affects the bones  Fruste form which is observed mostly through skin and skeletal changes

Number of Patients: 1

Disease Causing Genes:

SLCO2A1 HPGD

Sign and Symptoms:

  1. eczema
  2. Periotosis
  3. Clubbed Feet
  4. Excessive sweating
  5. Arthritis

Diagnosis:

Medical history collection, Physical examination, Biochemical test, X-ray, NCV test, MRI of the brain, Examination of the musculoskeletal system, Radiography of the limbs, Skin biopsy

Preventions:

Treatment:

symptomatic treatment, nonsteroidal anti-inflammatory, vagotomy