Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and nystagmus in infancy heralds the development of keratitis, corneal vascularization, and lens cataracts. Repeated corneal transplants have failed. Red, periorificial mucosal lesions involving the above structures are noted by 1 year of age and may persist throughout life. Chronic rhinorrhea and repeated upper respiratory infections frequently progress to bilateral pneumonia accompanied by loss of hair, diarrhea, occasional melena, enuresis, pyuria, and hematuria. Spontaneous pneumothorax is frequent, terminating in fibrocystic-type lung disease and cor pulmonale. Women have had repeated abnormal vaginal PAP smears. Histologically the mucosal epithelium shows dyshesion, thinning of the epithelial layer, and dyskeratosis. Mucosal PAP smears show lack of epithelial maturation, cytoplasmic vacuoles and inclusions, and individual cell dyskeratosis. Histochemically there is a lack of cornification and keratinization. Ultrastructural studies show lack of keratohyalin granules, a paucity of desmosomes, intercellular accumulations, cytoplasmic vacuolization, and formation of bands and aggregates of filamentous fibers and structures in the cytoplasm resembling desmosomes and gap junctions. The condition is probably a panepithelial cell defect of desmosomal and gap junction structure most prominently affecting mucosal epithelia associated with an increased susceptibility to a variety of adventitious organisms.
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PMID:Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. 48 50

Pyometra is the accumulation of pus in the uterine cavity, thus stretching its walls and thinning and enlarging the uterus. This change is characteristic of the senium period of life, when the uterus is atrophic with a stenotic cervical canal. It most frequently occurs as a result of secondary infection of the cancerogenic tissue of the uterus and additional stenosation and clogging up of cervical canal by a malignant process. Apart from carcinomas of the body and uterus cervix, pyometra less often can occur in other illnesses such as senile endometritis and senile colpitis. As pyometra most frequently occurs in uterine carcinomas, in detection of this state, we must think of malignancy and direct our examination to this direction. In this paper we present a patient in whom pyometra developed because she carried an intrauterine device for forty years that resulted in chronic endometritis. The main symptoms for which the patient was admitted to hospital were abdominal pain and intensive suppurative vaginal excretion a month after removal of intrauterine device. The diagnosis of pyometra was made by gynaecological and ultrasound examinations, and also on the basis of gynaecological and ultrasound examinations one month after chronic endometritis was confirmed. On the basis of this finding we suspected that chronic endometritis was caused by this state. By cytological, PAP and histopathological examinations of samples obtained by explorative curettage and biopsy of the uterine cervix, malignant changes were eliminated a possible cause. By laboratory analysis and bacteriological examination of the uterine cavity and vaginal excretion, inflammatory changes of the uterine mocous membrane were confirmed as a cause of the pyometra. This conditions was due to carrying the intrauterine device for more decades. The therapy consisted of dilatation of the cervical canal and evacuation of accumulated suppurative contents and irrigation of uterine cavity with 3% solution of hydrogen peroxide and Povidon. Also wide spectrum antibiotics and uterotonics were given. Such treatment contributed to a fast and effectious recovery.
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PMID:[Pyometra as a result of placement of an intrauterine device for 40 years and chronic endometritis]. 1275 Nov 68