ABSTRACT
We report a case of Alport syndrome associated with esophageal leiomyomatosis, presenting as recurrent pneumonia. A 5-year old girl who had a history of cataract visited the out patient clinic with a complaint of recurrent wheezing and respiratory difficulty which had started five months previously. Chest magnetic resonance image(MRI) and esophagography, checked on the suspicion of achalasia, revealed esophageal leiomyomatosis and renal biopsy revealed Alport syndrome. In the pediatric population, this tumor is a rare cause of dysphagia and is often misdiagnosed as an esophageal motility disorder. Although a number of Alport syndrome associated with leiomyomatosis were reported in the literature, this is a second case report presented with recurrent pneumonia in Korea.
Subject(s)
Child, Preschool , Female , Humans , Biopsy , Cataract , Deglutition Disorders , Esophageal Achalasia , Esophageal Motility Disorders , Korea , Leiomyomatosis , Nephritis, Hereditary , Pneumonia , Respiratory Sounds , ThoraxABSTRACT
We present 2 cases of invasive extramammary Paget disease occuring in the vulva area of a 60 year old female, and in the scrotal and penile area of a 63 year old male patient. The histologically typical Paget cells were not only seen in the surface epithelium but were also involved in the outer root sheath of the hair follicles. Stromal infiltration of tumor cells into the upper dermis were present in both cases, however, no underlying primary sweat gland carcinoma was present. Metastatic foci of inguinal lymph nodes showed apocrine-type epithelium with abundant eosinophilic granular cytoplasm, which were positive for anti-CEA and GCDFP-15, as well as eccrine-type epithelium containing mucinous secretory materials in the lumen and the cytoplasm. Ultrastructural findings showed interdigitating plasma membranes with prominent desmosomes between the Paget cells, intracytoplasmic tonofibrils, intracellular tubules, lipid vacuoles, and enlarged mitochondria. Histological, immunohistochemical, and ultrastructural findings suggested that Paget cells showed both eccrine and apocrine differentiation.