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

Botulinum A toxin is used intramuscularly in the treatment of spastic neuromuscular disorders, strabismus, and laryngeal dystonia. The toxin has recently been reported as being useful for the cosmetic removal of glabellar furrows. The clinical effect of the toxin lasts four months or longer. Systemic side effects are rare and usually transient. We report the case of a psoriasiform eruption temporally related to the injection of botulinum A toxin into the medial rectus muscle to treat an ocular motility disorder. To our knowledge, this is the first case of a psoriasiform dermatitis caused by this agent.
 ...
PMID:Psoriasiform eruption from intramuscular botulinum A toxin. 148 91

This report describes an unusual case of a 9-year-old boy with a 6-month history of right lower eyelid lesion and excoriation of the adjoining skin that had not responded to topical treatment. The umbilicated lesion was electively excised and the base of the lesion was cauterized under general anesthesia, which resulted in complete resolution of the periocular dermatitis without additional treatment. It is important to consider molluscum contagiosum in the differential diagnosis in patients with periocular dermatitis, especially in the presence of an umbilicated vesicle, although it is classically taught that these lesions present with toxic conjunctivitis.
J Pediatr Ophthalmol Strabismus 2009 Jun 25
PMID:Molluscum Contagiosum-Induced Periocular Toxic Dermatitis. 1964 90

Sterol-C4-methyl oxidase (SC4MOL) deficiency was recently described as an autosomal recessive cholesterol biosynthesis disorder caused by mutations in the MSMO1 (sometimes also referred to as SC4MOL) gene. To date, 5 patients from 4 unrelated families with SC4MOL deficiency have been reported. Diagnosis can be challenging as the biochemical accumulation of methylsterols can affect global development and cause skin and ocular pathology. Herein, we describe 2 siblings from a consanguineous Turkish family with SC4MOL deficiency presenting with psoriasiform dermatitis, ocular abnormalities (nystagmus, optic hypoplasia, myopia, and strabismus), severe intellectual disability, and growth and motor delay. We undertook whole-exome sequencing and identified a new homozygous missense mutation c.81A>C; p.Asn27Thr in MSMO1. Segregation analysis in all available family members confirmed recessive inheritance of the mutation. The siblings were treated with a combination of oral and topical statin and cholesterol which resulted in clinical improvement. This study demonstrates how genomics-based diagnosis and therapy can be helpful in clinical practice.
 ...
PMID:New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. 3316 6