ESPE Abstracts

Introduction: The frequency of solid and hematological malignancies has been reported to be higher in children with Turner syndrome than in the general population. Mycosis fungoides (MF) represent the most common type of cutaneous T-cell lymphoma, which is a low-grade lymphoproliferative disease. To the best of our knowledge, the coexistence of Turner syndrome and MF has not yet been reported. Here, we report a girl with Turner syndrome and MF.

Case Report: An 11.2–year–old girl presented to the outpatient clinic with the complaint of substantial weight gain (approximately 10 kg in the last two years). She had no significant medical history, and her family history was unremarkable. Height, weight, and body mass index (BMI) were 132.8 cm (-2.1 SDS), 40.5 kg (+0.2 SDS), and 23 kg/m2 (+1.4 SDS), respectively. Physical examination revealed a plethoric face, low posterior hairline, acanthosis nigricans on the nape, and purple striae on the thighs, as well as shortening of the 5th metacarpals. Puberty was Tanner stage 2. The dexamethasone suppression test and 24-hour urinary cortisol were normal. Impaired glucose tolerance on oral glucose tolerance test was detected and metformin treatment was started. Other laboratory examinations including LH, FSH, and E2 were 2.2 mIU/mL, 12.2 mIU/mL, and 12.4 pg/mL, respectively. Karyotype analysis revealed mosaic Turner syndrome (mos 45, X/46, X, i(Xq)/46, XX[8/3/49]). Growth hormone (GH) treatment (50mcg/kg/day) was initiated. In the third month of GH treatment, persistent, erythematous, itchy skin lesions were observed and a skin biopsy confirmed the diagnosis of MF. GH treatment was discontinued, and a topical steroid was initiated. On follow-up, no additional treatment was required, since the lesions were under control with topical steroids.

Conclusion: Skin lesions should be carefully evaluated in patients with Turner syndrome due to the increased risk for malignancy and MF should be also considered in these patients who present with skin lesions. A dermatologic evaluation may be necessary to confirm the diagnosis and guide treatment.