A 22 year old man with acute genital oedema and a swollen ankle
| Autor: | Martijn B. A. van Doorn, Danielle J C Komen, Jim E Zeegelaar |
|---|---|
| Přispěvatelé: | Dermatology, Other Research |
| Rok vydání: | 2011 |
| Předmět: |
Male
medicine.medical_specialty Abdominal pain Physical examination Diagnosis Differential Young Adult Scrotum medicine Edema Humans Outpatient clinic Medical history General Environmental Science Hereditary Angioedema Types I and II medicine.diagnostic_test business.industry General Engineering Autosomal dominant trait General Medicine Surgery medicine.anatomical_structure General Earth and Planetary Sciences Ankle Genital Diseases Male Differential diagnosis medicine.symptom business Complement C1 Inhibitor Protein Penis |
| Zdroj: | British Medical Journal, 343:d3132 BMJ (Clinical research ed.), 343. British Medical Association Komen, D J C, van Doorn, M B A & Zeegelaar, J E 2011, ' A 22 year old man with acute genital oedema and a swollen ankle ', British Medical Journal, vol. 343, d3132 . https://doi.org/10.1136/bmj.d3132 |
| ISSN: | 0959-535X 0959-8138 |
| DOI: | 10.1136/bmj.d3132 |
| Popis: | A 22 year old man was referred to our outpatient department with a painless non-pruritic swelling of the genitals that had spontaneously developed in the course of a few hours. He had taken no medication in the past few months and denied having allergies. His medical history included intermittent “joint swellings,” which started at the age of 12. These swellings were sometimes preceded by a tingling sensation and usually resolved spontaneously within two days. Furthermore, at the age of 22 he was admitted to hospital with an episode of acute and severe abdominal pain for which no apparent cause was found. Physical examination showed scrotal and penile oedema (fig 1⇓), with no mucosal defects or skin abnormalities. He also had subtle swelling around the right ankle (fig 2⇓). His vital signs were within the normal range and his temperature was 36.8°C. Ultrasonography of the scrotum and penis showed extensive subcutaneous oedema but no other abnormalities. Screening laboratory analyses (blood and urine) were unremarkable. ### 1 What are the likely diagnosis and the differential diagnoses? #### Short answer The signs and symptoms and his medical history suggest a diagnosis of hereditary angio-oedema. The main differential diagnosis is Quincke’s oedema. Other differential diagnoses are idiopathic scrotal oedema, allergic reactions, drug reactions, and penile friction oedema. #### Long answer The main diagnosis to consider in this case is hereditary angio-oedema. This is a rare autosomal dominant disease caused by mutations in the gene encoding the broad spectrum protease inhibitor C1 esterase inhibitor (C1INH), which leads to reduced plasma concentrations of functional C1INH.1 This enzyme is the primary inhibitor of the complement proteases C1r and C1s as well as the contact system proteases, activated Hageman factor (coagulation factors XIIa and XIIf), … |
| Databáze: | OpenAIRE |
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