Endocrine Abstracts

Introduction: Darier disease, also known as dyskeratosis follicularis, is a rare autosomal dominant genodermatosis characterized by a persistent eruption of keratotic papules. It is caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca 2+ -ATPase isoform 2 in the endoplasmic reticulum. Since it is expressed in most tissues, other organs besides the skin may be involved in Darier disease. In this case, we report a patient treated for Darier disease who was also diagnosed later with Graves disease.

Case Presentation: We report the case of a 44-year-old male patient, treated for Darier disease since the age of 13, who recently showed nervousness, irritability, weight loss and hand tremors. Initial investigation showed a hyperthyroidism which is confirmed with measurement of a suppressed serum thyrotropin concentration (TSH) at a level of 0, 17 µUI/ml, and elevated free thyroid hormones at a level of at 176 pmol/l. Physical examination showed bilateral exophthalmia, a diffuse homogeneous goiter, systolic hypertension with a blood pressure of 160/80 mmHg, and multiple hyperkeratotic papules, on the chest, upper back, forehead, scalp, nasolabial folds, and ears. Immunological investigation showed positive anti-thyroid stimulating hormone receptor antibody at the level of 41 (normal <1), and positive Thyroid peroxidase antibody (TPO) at the level of 8780 (normal<70). He was treated with two doses of radioactive Iodine-131 (10 mCi than after 7 month 17 mCi) with good evolution. After 2 months, he developed hypothyroidism and is now treated with a dose of 1,5µg/kg/day of levothyroxine.

Conclusion: In conclusion, since intracellular calcium homeostasis is of fundamental importance, Darier disease should be considered a systemic condition that requires screening for other organ dysfunctions like dysthyroidism.