1.
SAM syndrome is characterized by extensive phenotypic heterogeneity.
Taiber, S, Samuelov, L, Mohamad, J, Barak, EC, Sarig, O, Shalev, SA, Lestringant, G, Sprecher, E
Experimental dermatology. 2018;(7):787-790
Abstract
Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare life-threatening inherited condition caused by bi-allelic mutations in DSG1 encoding desmoglein 1. The disease was initially reported to manifest with severe erythroderma, failure to thrive, atopic manifestations, recurrent infections, hypotrichosis and palmoplantar keratoderma. We present 3 new cases of SAM syndrome in 2 families and review the cases published so far. Whole exome and direct sequencing were used to identify SAM syndrome-causing mutations. Consistent with previous data, SAM syndrome was found in all 3 patients to result from homozygous mutations in DSG1 predicted to result in premature termination of translation. In contrast, as compared with patients previously reported, the present cases were found to display a wide range of clinical presentations of variable degrees of severity. The present data emphasize the fact that SAM syndrome is characterized by extensive phenotypic heterogeneity, suggesting the existence of potent modifier traits.
2.
No allergic reaction after TKA in a chrome-cobalt-nickel-sensitive patient: case report and review of the literature.
Thienpont, E, Berger, Y
Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA. 2013;(3):636-40
Abstract
Hypersensitivity to metallic implants remains relatively unpredictable and poorly understood. Although 20-25 % of total joint arthroplasty patients develop metal sensitivity, only a few highly susceptible persons (<1 %) exhibit symptoms. We present a case report of a fifty-two-year-old woman with a preoperatively documented metal allergy who underwent bilateral total knee arthroplasty using a titanium-niobium-coated implant on one side and a chrome-cobalt implant on the other side because of a logistics problem. At 2-year follow-up, no clinical symptoms of allergy or loosening of the implant were observed. Level of evidence IV.
3.
Eosinophilic esophagitis in adults--no clinical relevance of wheat and rye sensitizations.
Simon, D, Straumann, A, Wenk, A, Spichtin, H, Simon, HU, Braathen, LR
Allergy. 2006;(12):1480-3
Abstract
BACKGROUND Eosinophilic esophagitis (EE) is often associated with concomitant atopic diseases. In children with EE in whom food allergens have been identified as causative factors, elemental and elimination diets result in an improvement or resolution of symptoms. Most adult EE patients are sensitized to aeroallergens, which cross-react with plant-derived food allergens, most commonly to grass pollen and cereals. AIMS OF THE STUDY To investigate the clinical relevance of the sensitization to wheat and rye, and the efficacy of an allergen-specific elimination diet in adult EE patients. METHODS Six patients (five men, one women) with permanently active EE sensitized to grass pollen and the cereals wheat and rye underwent a double-blind placebo-controlled food challenge and were kept on an elimination diet avoiding wheat and rye for 6 weeks. RESULTS The challenge tests with wheat and rye did not provoke any EE symptoms in all patients. The elimination diet failed in reducing disease activity. Although one patient noticed an improvement of symptoms, endoscopic and histopathologic findings remained unchanged. CONCLUSIONS In adult EE patients, sensitization to wheat and rye does not seem causative for EE. Elimination diet is not a reliable and efficient therapeutic measure in EE patients sensitized to wheat and rye. Low specific immunoglobulin-E levels to wheat and rye may be a consequence of the underlying grass pollen allergy.
4.
Type IV hypersensitivity reactions to upper lid gold weight implants-is patch testing necessary?
Doyle, E, Mavrikakis, I, Lee, EJ, Emerson, R, Rainey, AJ, Brittain, GP
Orbit (Amsterdam, Netherlands). 2005;(3):205-10
Abstract
AIMS: To report two cases of allergic reaction to upper lid gold weight implants in patients with facial nerve palsy and to identify the use of pre-implantation patch testing in predicting gold hypersensitivity. METHODS One patient who had a positive family history of gold allergy and had undergone previous gold dental restoration underwent patch testing with gold sodium thiosulphate. The gold weight from the same patient was analysed using scanning electron microscopy and energy dispersive X-ray analysis, which can detect surface impurities. Tissue obtained during surgery to remove the gold weight from the second patient was examined histologically. RESULTS Patch testing in the first patient gave a positive result. Analysis of the gold weight removed from the same patient confirmed 99.99% purity, and hence sensitivity to the gold itself was considered to be the cause of the inflammatory reaction. Histology of tissue taken from the eyelid of the second patient was consistent with type IV hypersensitivity. CONCLUSION A personal and family history of gold allergy should be looked for before upper eyelid gold weight implantation. Patch testing should be performed for patients where there is doubt about whether gold has been the specific cause of previous allergic reactions, for patients who have undergone previous dental restoration involving gold, or if there is a positive family history of gold allergy.