Tracheal enlargement or Mounier-Kuhn syndrome in giant cell arteritis: a possible causal association with therapeutic implications.

Giant cell arteritis (GCA) is a large-vessel vasculitis with rarely described respiratory initial manifestations. We report such a case presenting with hoarseness, stridor, cough and dyspnea, in which a tracheomegaly with tracheomalacia was found. No signs of relapsing polychondritis were present. The respiratory symptoms rapidly improved after glucocorticoids and Azathioprine. Tracheomegaly or Mounier-Kuhn syndrome is characterized by marked dilatation of trachea and central bronchi. The differential diagnosis and the possible relationship between tracheomegaly and GCA involving metalloproteinase-induced elastolysis are discussed. This is the first case, to our knowledge, of Mounier-Kuhn syndrome in vasculitis. The association of tracheomegaly with GCA may be underestimated, as the diagnosis is not always obvious on conventional radiographs. A tracheal enlargement finding in GCA requires monitoring to ensure early detection and prevention of spontaneous tracheal rupture. Adding a metalloproteinase inhibitor like Doxycycline to GCA therapy would be rational for the prophylaxis of complications.

Redundant plantar skin folds.

A 46-year-old female patient presented with photosensitivity, symmetric arthritis, episodic plantar pain and strikingly redundant plantar skin folds, likely due to lipoatrophy after recurrent episodes of plantar panniculitis. In this context, leukopenia with lymphopenia, thrombocytopenia and positive antinuclear antibodies were revelatory for systemic lupus erythematosus. However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third syndactyly and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal Proteus syndrome. Genetic confirmation could not be performed. As adipose tissue dysregulation may be a feature of Proteus syndrome, the possible mechanisms leading to localized lipoatrophy in this setting are discussed. This case enlights intriguing links between adipogenesis, inflammation and dysmorphology. From a practical point of view, finding and treating an over-imposed inflammation could help limit damage in a hamartomatous syndrome.