Endocrine Abstracts

Introduction: Thevenard’s disease is a sensory neuropathy with a type of ulcerative-mutilating acropathy of progressive course. It has a hereditary character with autosomal dominant inheritance. It is a scarce disease, which usually affects feet but can also affect hands. It causes disorders of thermoalgesic sensitivity, leading to painless ulcerations at the pressure points and then bone deformities with osteoarticular destruction and ‘cubic foot‘ appearance. Repeated superinfections, often with multi-resistant germs, are the cause of frequent amputations. Les surinfections à répétition, à des germes souvent multi-résistants, sont à l’origine des amputations fréquentes. We report the case of the three sisters who suffer from Thevenard’s disease with multinodular goiter.

Cases: They are three sisters whose age varies between 30 and 40 years, they are under treatment for Thevenard’s disease since the age of 18, with unilateral transtibial amputation in the three and deformities of the third phalanges of the hands in the youngest. They had multi-nodular goiter in euthyroidism (Tirades 2 and 3 nodules) revealed around the age of 30. The autoimmunity record was negative. They were operated on for signs of compression (dysphonia+). Anatom examination opathological was benign with signs of thyroiditis among the three sisters. The clinical and biological course was good under L-thyroxine. Note that there is no notion of goiter in their family or other predisposing factors.

Discussion: Thevenard’s disease begins during adolescence or in adult age. Its diagnosis is made in practice, on bundles of clinical, electrophysiological and family arguments. Neuromuscular biopsy has only a differential diagnostic interest, discarding other polyneuropathies responsible for impaired thermoalgic sensitivity, such as diabetic, amyloid, para-amyloid and leprous neuropathies. The diagnosis of certainty requires the detection of a mutation in the SPTLC1 gene. Preventive treatment of skin lesions is the mainstay of the care of these patients because no curative treatment is available. Its association with multinodular goiter has not been reported in the literature. Moreover, this association among three sisters suggests a link between Thevenard’s disease and nodular goiter which remains to be defined.

Conclusion: Goiter is most commonly caused by iodine deficiency, autoimmune or nodular diseases. Nevertheless, its appearance outside these circumstances and in association with serious diseases such as Thevenard’s disease opens up a perspective for clinical and genetic research.

References: N.ghariani. Thevenard’s disease: about a new observation, dermatology department, CHU Farhat Hached, Sousse, Tunisia, the journal of internal medicine, volume 40 supplement June 1, 2019, Pages A213-A214.