Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 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 report two children with a common pattern of birth defects. Both have very sparse, curly hair, nystagmus and mental retardation. The first one has Noonan syndrome habitus associated with keratosis plantaris and nystagmus; the second one has a slightly Noonan-like face, macrocephaly, keratosis pilaris, and hypertrophic cardiomyopathy. They represent the extreme of a spectrum of congenital defects recently reported independently as CFC syndrome by Reynolds and as "Noonan-like short stature syndrome with sparse hair" by Baraitser and Patton. The clinical features are reviewed and the autonomy of the syndrome with regards to Noonan syndrome, is disputed, since every sign seems to occur independently in Noonan syndrome. The father of the second case probably has a minor syndrome expression, pointing to probable autosomal dominant inheritance.
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PMID:CFC syndrome: a syndrome distinct from Noonan syndrome. 326 6

A 19-year-old Chinese female presenting mucocutaneous manifestations including facial trichilemmomas, oral papillomatosis, and acral keratosis was diagnosed, according to the criteria proposed by Salem and Steck, as a definite case of Cowden's disease, although no members of her family were affected. The cutaneous reticulohistiocytic granuloma and congenital nystagmus of eyes that occurred in this case were new combinations in the syndrome. To the best of our knowledge, this is the first documented case of Cowden's disease in a Chinese.
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PMID:Cowden's disease: report of the first case in a Chinese. 806 4

Human oculocutaneous albinism (OCA) is a heritable metabolic defect transmitted as an autosomal recessive trait and characterized by a hypopigmentation of skin, hair and eyes. This defect is mainly due to an altered or absence of tyrosinase activity, the key enzyme of eu-and pheo-melanin synthesis. It is a seldom condition in white peoples but more frequent in Africans and in Afro-Americans. Albinos, especially in tropical settings, have high prevalence of solar keratosis and squamous cell carcinoma. Ocular defects characteristics of OCA are photobia, nystagmus and decreased visual acuity. Two forms of OCA have been distinguished in 1970 on the basis of their genetic, clinical, biochemical and ultrastructural characteristics: type I i. e. tyrosinase negative and type II i. e. tyrosinase positive. Actually 10 forms are described. Human tyrosinase gene has been mapped to chromosome 11 (q14-21) and cloned. It is formed by 5 exons. Several different human tyrosinase gene mutations have been identified in patients with type I-A OCA. Non sense, misense and frameshift mutations result in altered or absence of tyrosinase activity.
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PMID:[Human oculocutaneous albinism. From clinical observation to molecular biology]. 812 97

A 34-year-old woman presented to our outpatient clinic with photosensitivity, photophobia, and facial pruritus (Figure 1). She had brown eyes and fair skin, hair, eyelashes, and eyebrows since birth. Her sister had similar skin and hair pigments. The patient had no systemic disease and was not taking any medication. Her parents were second-degree relatives. A dermatologic examination revealed small hyperkeratotic papules with an erythematous background, minimal desquamation, and some excoriation over the nose, zygomatic arch, and forehead consistent with actinic keratosis and solar damage. An ophthalmological examination demonstrated impaired visual acuity (60/100 in both eyes, reaching 80/100 in the left eye with best correction). Hypopigmentation at the albinotic retinal midperiphery (Figure 2) by fundoscopy was noted. She had no nystagmus or strabismus. The patient had no complaints or symptoms of the neurological, gastrointestinal, or respiratory system, and she had no recurrent skin or systemic infection.
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PMID:A Turkish patient with Hermansky-Pudlak syndrome. 2563 53