Endocrine Abstracts

Introduction: Congenital ichthyoses are a group of inherited keratinization disorders that pose a challenge in terms of diagnosis, treatment, and clinical associations with other pathologies. The association with vitamin D deficiency and possible bone changes is cited, but the exact mechanism of occurrence of endocrine pathologies is not described.

Case report: We report the case of a 16-year-old teenage boy known to have congenital ichthyosis, having been under the care of a dermatologist since birth. He was recently admitted to our clinic for hypocalcemic seizures, without a detectable etiology, with good response to calcium supplementation. On clinical examination, the adolescent had a normal waist and weight, being in Tanner stage 4 development. At the first endocrine evaluation we detected a total calcemia of 6 mg/dl, with low PTH values, slightly increased phosphorus, mild vitamin D deficiency, and normal albuminemia, glucose, renal and liver function values. In addition, evaluation of thyroid, adrenal, testicular and pituitary hormone axes showed normal values. Neurological and ophthalmological evaluation did not identify pathological changes, but cerebral CT showed the presence of intracerebral calcifications. In the face of a diagnosis of hypoparathyroidism the evolution was favourable on optimal treatment with oral calcium together with active vitamin D.

Conclusion: Hypoparathyroidism may be associated with congenital ichthyosis but further studies are needed to establish the exact etiopathogenic mechanisms.