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1.
J Wrist Surg ; 12(5): 439-441, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37841354

RESUMO

Background Epidermal inclusion cysts (EIC) are epidermally lined, keratin containing cysts which occur when keratinizing epithelium becomes imbedded in deeper subcutaneous tissue, usually following penetrating trauma, or, rarely, surgery. We describe a case of an EIC presenting as a late complication following open carpal tunnel release (CTR). Case Description A 64-year-old woman with a history of left open CTR 17 years prior presented to our institution with unprovoked left palmar pain, swelling, and fluctuance. Computed tomography imaging confirmed the presence of a multiloculated abscess involving the hypothenar musculature. The abscess developed at the site of a small, pre-existing, asymptomatic mass that the patient recalls developed within months of CTR surgery. She was initially treated with antibiotics and bedside incision and drainage, but required further operative exploration in the setting of persistent erythema and drainage. An inflamed cystic structure consistent with an infected EIC was identified and completely excised. Her wound healed by secondary intention. Her postoperative course was uncomplicated. Pathology confirmed a diagnosis of EIC. Literature Review Only one other case report was found in which the patient presented within 2 years following CTR surgery with what was later confirmed to be an EIC and recurrent median nerve compression symptoms. Clinical Relevance To prevent a delay in definitive surgical care, EIC rupture and subsequent infection should be considered in the differential diagnosis when evaluating patients with a history of prior hand surgery who are presenting with an unprovoked hand abscess, as incision and drainage alone will not adequately treat an EIC.

2.
Blood Coagul Fibrinolysis ; 21(5): 494-7, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20386430

RESUMO

The dysfibrinogen gammaR275C can be a clinically silent mutation, with only two out of 17 cases in the literature reporting a hemorrhagic presentation and four cases reporting a thrombotic presentation. We describe here a particularly severe presentation in 54-year-old female patient who required a hysterectomy at 47 years of age due to heavy menstrual bleeding. Coagulation studies revealed a prolonged prothrombin time and thrombin time, a normal fibrinogen antigen level, and a low fibrinogen activity level. Molecular analysis of the patient's DNA revealed a gamma chain gene mutation resulting in an amino acid substitution at residue 275 (gammaR275C). Protein sequencing of the fibrinogen gamma chain confirmed this mutation, which was named Fibrinogen Portland I. This case demonstrates that the gammaR275C mutation can lead to a severe hemorrhagic phenotype.


Assuntos
Fibrinogênios Anormais/genética , Menorragia/genética , Mutação de Sentido Incorreto , Substituição de Aminoácidos , Testes de Coagulação Sanguínea , Feminino , Fibrinogênios Anormais/isolamento & purificação , Heterozigoto , Humanos , Pessoa de Meia-Idade , Fenótipo
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