Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern. It has an estimated prevalence of less than 1/1,000,000 live births. The diagnosis can be difficult because the phenotypes of the patients are variable. Many individuals develop cutaneous capillary malformation and prominent varicosities (large and complex vascular malformations). Thus, Proteus syndrome patients are at risk of developing deep vein thrombosis and pulmonary embolism. The authors present the case of a patient with Proteus syndrome who was admitted because of pulmonary thromboembolism and presented hypertrophy of the left arm and left hemithorax.
Eosinophilic granuloma is a localized, non-invasive form of Langerhans cell histiocytosis. It usually develops in the long bones and is more frequent in children under the age of 10 years. It is very rare in adults. We present the case of a young woman admitted to hospital for persistent refractory left parietal headache, later revealed to be caused by an eosinophilic granuloma.
Hypokalemia, despite its potential seriousness, is frequently encountered in clinical practice; with the majority of cases occurring in adulthood being rationalized by examining the triad losses: diuretics, vomiting and diarrhea, as inherited causes of hypokalemia with later onset are uncommon. Below we report a case of chronic and recurrent mild hypokalemia, in an adult patient with idiopathic congenital deafness. Early clinical and analytical findings pointed to a hereditary syndrome with augmented potassium renal excretion. Suspicion of a likely molecular basis motivated the analysis of the barttin's gene, revealing a G47R mutation in heterozygosity as well as a second mutation within an usually unaltered area. G47R mutation when in homozygosity is associated with an attenuated BSND (Bartter syndrome accompanied by sensorineural deafness) phenotype, questioning the clinical significance of the second mutation discovered.
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