Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042109 (urticaria)
 6,569 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe an 18-month-old male infant suffering from the ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome and further delineate the clinical phenotype. Severe retardation of growth and psychomotor development, chill-like seizures, bronchial asthma, urticaria, a proneness to skin infections and transient nail dystrophy observed in our patient are non-obligatory manifestations of this disorder. Histological examination of the atrichia revealed poorly developed, shortened hair follicles and a complete absence of sebaceous glands. The sex ratio of published cases suggests an X-linked recessive inheritance. The marked clinical variability of the IFAP syndrome might be the expression of a contiguous gene defect.
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PMID:Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. 191 13

A 34-year-old Lebanese man presented with photophobia, tearing, and reduced vision in the left eye, a few hours after being accidentally hit in the eye with a fingernail. The cornea in the left eye showed corneal defect . About three minutes after receiving topical fluorescein in this eye, the patient developed syncope and anaphylactic shock. After immediate reanimation, the patient regained consciousness. When specifically asked, he reported a three-month history of urticaria to the right side of his neck and nose. The possible pathophysiology involves an underlying IgE-mediated mechanism. Ophthalmologists should be aware of complications associated with topical fluorescein.
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PMID:Anaphylactic shock after fluorescein staining corneal abrasion. A case report. 2156 Aug 53

Regulation of vesicle trafficking to lysosomes and lysosome-related organelles (LROs) as well as regulation of the size of these organelles are critical to maintain their functions. Disruption of the lysosomal trafficking regulator (LYST) results in Chediak-Higashi syndrome (CHS), a rare autosomal recessive disorder characterized by oculocutaneous albinism, prolonged bleeding, severe immunodeficiency, recurrent bacterial infection, neurologic dysfunction and hemophagocytic lympohistiocytosis (HLH). The classic diagnostic feature of the syndrome is enlarged LROs in all cell types, including lysosomes, melanosomes, cytolytic granules and platelet dense bodies. The most striking CHS ocular pathology observed is an enlargement of melanosomes in the retinal pigment epithelium (RPE), which leads to aberrant distribution of eye pigmentation, and results in photophobia and decreased visual acuity. Understanding the molecular function of LYST and identification of its interacting partners may provide therapeutic targets for CHS and other diseases associated with the regulation of LRO size and/or vesicle trafficking, such as asthma, urticaria and Leishmania amazonensis infections.
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PMID:Lysosomal Trafficking Regulator (LYST). 2642 84