Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022568 (keratitis)
 5,133 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

We analyzed the differentiation of two strains isolated from the conjunctiva and rhinorrhea of a patient with herpetic keratitis by the restriction endonuclease digestion method of herpes simplex virus (HSV) DNA. As a result two strains were identified as the same one. This result suggests that HSV contained in tears flows into the nasal cavity via the lacrimal canaliculi.
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PMID:Transmission of herpes simplex virus infection via lacrimal canaliculi. 131 37

Before the microbiologic era, venereal diseases were poorly distinguished. Congenital syphilis was believed to be transmitted during conception by the father's sperm, during delivery in the birth canal, or from infected milk or breasts. The most frequent maternofetal transmission was not considered because the mother's primary infection remained undiagnosed. The concept of treating infants with mercury transmitted by nurses' milk prompted the founding of a specialized infant hospital in Vaugirard in 1780: lactating syphilitic women received mercury orally and by rubbing it into the skin. Their own infant and a second infected infant from the foundling hospital were believed to be cured by their milk. Underwood described snuffles in 1789 and Bertin periosteal bone disease in 1810. Tardive congenital lues with keratitis, deafness, and notched upper incisors were described by Hutchinson in 1863. Feeding remained difficult, as wet nursing transmitted syphilis to the nurse and other infants. Specialized institutions tried goat or donkey milk. A debate between contagionists assuming exclusively maternal infection and hereditists assuming germinal transmission by the father's sperm continued throughout the 19th century. Schaudinn and Hoffmann identified Spirochaeta pallida in 1905. When Ehrlich discovered the efficacy of salvarsan in 1910, Noeggerath treated infants with the new drug, pioneering the injection into scalp veins. In 1943, Lentz and Ingraham established penicillin treatment for congenital syphilis. Whereas this drug effectively prevented maternofetal transmission, treating infants remained difficult due to the Jarisch-Herxheimer reaction.
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PMID:Curse on two generations: a history of congenital syphilis. 2348 62