Abstract for presentation at 11th International Congress of Human Genetics

Pachydermoperiostosis, also called Primary Hypertrophic Osteoarthropaty, is an autossomal dominant disease with variable expression, that is basically characterized by clubbing digits, enlargement of extremities (secondary to periarticular and osseous proliferation), arthralgia, and pachydermia of the face and upper trunk. We report an index case of a man, 28 yo, that relates thickening of the skin (especially in scalp and frontal region) in the last 3 years, associated with enlargement of the hands and feet (his shoes were number 38, and now are 41). The patient doesn’t relate arthralgia, abdominal pain, dyspnoea nor weight loss. In a routine medical consultation, with 27yo, was evidenced an important anemia, being then the patient transferred to our Hospital for diagnostic investigation. The patient is the second son of three children of a non-consanguineous couple. The oldest brother has enlargement of the hands and feet, as well as the father who presents cutis gyrata, enlargement of hands and feet, and chronic anemia. In the physical examination we can observed: cutis gyrata, greasy skin, thick subcutaneous tissue in the distal parts of extremities, with clubbing of nails. The following investigation was made: hepatic and renal function tests are normal, thorax X-ray was normal, Abdominal US was normal, Caryotype with G bands 46,XY (normal), GH, IGF-1, TSH and freeT4 values were normal, digestive endoscopy didn’t have any signal of inflammatory or hemorrhagic disease, medullogram was normal (no evidence of myelofibrosis), and the X-rays shows enlargement of the soft tissue next distal phalanges, cortical thickening of metatarsal and phalanges diaphyses, periosteal proliferation of the tarsus, prominence of ungueal lamina. The differential diagnosis is essential, because the hyperthrophic osteoarthropathy (clubbed fingers) is, in majority of the times, associated with cardiopulmonary, neoplastic and endocrinologic diseases.