Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report an unusual case of development of upper eyelid depigmentation in a child 4 months following corticosteroid injection of a periocular capillary hemangioma. Depigmentation has been described with local steroid injections for other dermatologic conditions, but has not been reported previously with treatment of infantile ocular adnexal hemangiomas.
J Pediatr Ophthalmol Strabismus
PMID:Eyelid depigmentation following corticosteroid injection for infantile ocular adnexal hemangioma. 291 11

Chromosome region 15q is thought to contain one or more genes that are important for melanin pigment synthesis in the hair, skin, and eyes. Hypopigmentation has been identified in the Prader-Willi (PWS) and Angelman (AS) syndromes. We have examined 6 individuals with AS to further characterize the pigment pattern in this condition. The age of the 5 girls and one boy ranged from 2.4 to 7.0 years. None had obvious albinism. Hair color ranged from light blond to brown. Skin was type I in 3 and type II in 3. Eye changes included nystagmus in 2, strabismus in 4, and reduced retinal pigment in 5. The mean hairbulb tyrosinase activity was 0.37 +/- 0.44 pmol/hb/120 min for the individuals with AS, with a range of 0.00 to 1.13 (normal brown control 1.49 +/- 0.79, normal blond control 1.50 +/- 0.85). Electron microscopic examination of hairbulb melanocytes showed normal melanosome and melanocyte architecture and number, but reduced melanin formation, with many stage II and III premelanosomes but few stage IV fully melanized melanosomes. Hypopigmentation characterized by light skin, reduced retinal pigment, low hairbulb tyrosinase activity, and incomplete melanization of melanosomes is part of the phenotype of AS, and is similar to that found in PWS.
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PMID:Hypopigmentation in Angelman syndrome. 849 33

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