Relapsing polychondritis is a rare autoimmune disease causing inflammation in cartilaginous structures and other tissues throughout the body. Negative-pressure pulmonary edema (NPPE) due to laryngeal swelling from relapsing polychondritis is rare and has not been reported. Here, we report a case of relapsing polychondritis in an 18-y-old female who presented with recurrent NPPE and acute respir...

Ectodermal dysplasias (EDs) form a part of the complex group of rare congenital diseases, primarily observed as a result of the abnormal development of embryonic ectodermal derivatives. A 5-year-old male child reported to the Department of Pedodontics and Preventive Dentistry, with the typical features of hypohidrotic ectodermal dysplasia (HED), i.e., diff usely sparse hair, eyelashes and eyebr...

An 82-year-old man with severe cardiac arrhythmia and recurrent heart failure presented with a 3-year history of erythematous plaques on the left orbita and on the chest. The lesion on his left eye was a hypertrophic actinic keratosis (231.5 cm), a scaly erythematous plaque on the saddle of the nose extending to the opening of the left lacrimal duct. The chest lesion consisted of a 532.5-cm pla...

Wegener's granulomatosis (GW) is a multisystemic granulomatous vasculitis that predominantly affects the airways and the kidneys, but may affect any organ. Otorhinolaryngological manifestations may be gingival swelling, oral ulcer or septal perforations that can cause saddle nose deformities, rhinitis, sinusitis and hearing loss. We report a case of WG that was first diagnosed on oral gingival ...

Wegener's granulomatosis is a multisystemic granulomatous vasculitis that predominantly affects the airways and the kidneys, but may affect any organ. Otorhinolaryngological manifestations may be oral ulcers, gingival swelling or septal perforations that can cause saddle nose deformities, rhinitis, sinusitis and hearing loss. The oral ulcers usually occur when the disease is advanced. Renal inv...

A 53-year-old Japanese woman presented with mild mental retardation, short stature, hypertelorism, saddle nose, vertebral fusion, and hydrocephalus, implying an underlying bone growth impairment mainly of the head and neck. A point mutation in fibroblast growth factor receptor 2 (FGFR2) was identified that had previously been seen only in sporadic cases of Crouzon syndrome. This patient did not...

Granulomatosis with polyangiitis (Wegener's granulomatosis) is one of the anti-neutrophil cytoplasmic anti-body-associated small vessel vasculitides. Upper and lower respiratory system and kidneys are most commonly affected. The disease is characterized by granulomatous inflammation of the respiratory tract and necrotizing vasculitis of small to medium-sized blood vessels. Most patients show in...

Skull base osteomyelitis in the setting of granulomatosis with polyangiitis (GPA) is rare and entails significant diagnostic challenges. We present a case of a 65-year-old Caucasian man with a history of rheumatoid arthritis, off immunosuppression for 18 months, who presented with 2 years of chronic headaches, severe fatigue, saddle nose deformity and 20-kilogram unintentional weight loss. Maxi...