Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency.
Severe congenital neutropenia (SCN) is a primary immunodeficiency disease characterized by early onset of severe bacterial infection and persistent severe neutropenia. We describe an SCN patient with a history of recurrent infections. The clinical course was complicated by necrosis of the nasal cartilage due to mucormycosis. Molecular studies revealed a homozygous germline HAX1 mutation. Fungal infections may lead to serious complications in immunodeficient patients. Recurrent and severe infections should alert physicians to possible immunodeficiency disease. Early diagnosis and appropriate treatment are the most important keys to preventing irreversible organ damage. (+info)
Anatomy of the nasal profile.
There is a lack in the understanding of the variation within the thickness of the soft tissue structures (muscle, skin and fat) overlying the cartilaginous skeleton of the nose and their relationship to the dorsum shape. We examined such relationships by dissecting noses of six adult female and six adult male cadavers, comparing the internal anatomical structures to the external nasal profile. We found that the soft tissue structures differ in thickness along the dorsum and that these differences are individualized. Specifically, continuous presence of subcutaneous fat from root to tip was found in half the sample, one nose had fat only on the tip, another one only on the root, the four others at both positions. The nasalis muscle was identifiable in nine of the 12 noses, transversing the nose in half the sample, and in the remaining three, only the lateral section of the muscle was identified. The superior border of the septal cartilage does not form a linear extension of the profile contour of the nasal bones but angles downwards. The actual profile contour of the dorsum does not follow the profile of the nasal bones or the septal cartilage. These results may influence the current use of nasal guidelines in forensic facial approximation. (+info)
The polycystic kidney disease 1 (Pkd1) gene is required for the responses of osteochondroprogenitor cells to midpalatal suture expansion in mice.