Objectives A highly invasive pathological diagnosis is necessary to differentiate central diabetes insipidus (CDI) with a thickened pituitary stalk. Lymphocytic infundibulo-hypophysitis (LIH) due to autoimmune involvement of the pituitary stalk is a differentiating disease, and anti-rabphilin-3A antibody (Rab3A-Ab) positivity was recently reported. Case presentation A 7-year-old boy was diagnosed with CDI after having polyuria for two months. He showed growth hormone deficiency with reduced growth rate. Brain magnetic resonance imaging (MRI) revealed a thickened pituitary stalk. The placental alkaline phosphatase level of the cerebrospinal fluid, tumor marker for germ cell tumors, was below the level of sensitivity. No skin or bone findings suggestive of Langerhans cell histiocytosis were detected. Eight months after CDI onset, Rab3A-Ab was positive, and MRI showed shrinking of the thickened pituitary stalk, leading to the diagnosis with LIH. Conclusions Rab3A-Ab is a useful adjunctive diagnostic tool for childhood-onset LIH.

No abstract

No abstract

Introduction: Pemphigus vulgaris is an autoimmune disease with characteristic blistering lesions on the skin and mucous membranes, associated with painful erosions and ulcers. The mucosal-dominant type is relatively rare. Here, we report a case of mucosal-dominant pemphigus vulgaris with progressive erosion and ulceration of the oral mucosa and decreased oral intake due to throat pain with some literature review. Case: The patient was a 54-year-old man who presented to our clinic with a chief complaint of throat pain and oral feeding difficulty. About 6 months earlier, he presented to a dentist for oral sores, but not well treated. He then went to a local otolaryngologist 4 months prior to visiting our clinic, but his symptoms did not improved. At his first visit to our clinic, there were no abnormal skin findings, erosions were found on the buccal mucosa, soft palate, gingiva, floor of the mouth, tongue, and lips, as well as the mucous membrane of the hypopharynx and the arytenoid region. On suspicion of dermatologic disease related stomatitis, we referred him to the dermatology clinic at our institution where biopsies of an erosion in the lower lip and the oral mucosa were performed. The biopsies revealed IgG deposits in the mucous epithelial cell membrane, and serum anti-desmoglein-3 antibody levels were high. Thus, the patient was diagnosed with mucosal-dominant pemphigus vulgaris.

No abstract