Endocrine Abstracts

The aim: To study the case of Pachydermoperiostosisis.

Material and methods: We report a case of a 24-year old male complaining of marked changes in appearance due to the disfiguring thickening and wrinkling of skin, excessive greasiness and perspiration, marked horizontal creases on the forehead, with deep furrows between them, increase in the thickness of eye lids, “senile expression” of the face, thickening of distal parts of extremities, fingers and toes. The patient is unsocial, aloof and focused on his emotions.To evaluate the patient’s condition we conducted hormonal and biochemical investigations, as well as total blood and clinical urine analysis; MRI of pituitary and ultrasonography of inner organs were performed.

Results: GH – 2.2 (normal range: 0–20 mIU/l); IGF –114.6 (normal range: 219–644 mg/l); prolactin – 5.3 (normal range: 1–18 ng/ml), TSH – 0.87 (normal range: 0.17–4.05 mIU/l), free T4 – 15.5 (normal range: 11.5–23 pmol/l). The patient was diagnosed with pituitary microadenoma, mastoiditis, ethmoiditis, and sinusitis; US revealed chronic cholecystitis, pancreatitis, and reactive hepatitis. Total blood and clinical urine analysis demonstrated no deviations. The patient presented pachydermia of scalp with moderately painful, rough skin folds in the parietal-occipital region, resembling cerebral gyri, thickening and enlargement of eyelids due to hypertrophy of the cartilage tissue, dystrophic changes of the conjunctiva, atrophy of the tarsal glands with formation of cysts and granulomas in them. The patient is unsocial, aloof and focused on his emotions.

Conclusions: Although the prognosis for patients with pachydermoperiostosis is unfavorable, and there are no specific prevention techniques, they can maintain the ability to work for a long time and live to old age if the appropriate treatment is applied (the latter can be achieved by a thorough medical and genetic counseling of families of patients. Some cases, severe articular syndrome may cause permanent disability.