[The Proteus syndrome: a rare cause of pulmonary emphysema].

[proteus syndrome]

The Proteus syndrome is a rare genetic disease which is characterized by the overgrowth of tissues , especially bone , connective and adipose tissue . This condition is related to a somatic mosaic activating mutation in the AKT 1 oncogene .We report the case of a 25 -year -old man , diagnosed with the Proteus syndrome at the age of 6 months . He exhibited an asymmetric overgrowth of the extremities leading to bilateral amputation of the legs at the age of 10 years . He was hospitalized for acute respiratory failure due to a bronchopulmonary infection . Severe bullous pulmonary emphysema , predominantly on the left , with mediastinal deviation , was diagnosed . The patient recovered with antibiotics . An assessment 2 months later revealed mild hypoxaemia (PaO 2 =75 mmHg ) and severe airflow limitation (FEV 1 =1260 mL [28 % th .], FEV 1 /V C =69 %) with hyperinflation (TLC =7840 mL [107 % th .], RV =6010 mL [253 % th .]).The Proteus syndrome is a very rare cause of pulmonary emphysema . The pathophysiology of emphysema in this syndrome is unknown . It can be hypothesized that the development of pulmonary cysts leading to emphysema may share the same AKT 1 activation pathway with lymphangioleiomyomatosis .

Diseases
Validation

Diseases presenting "rare genetic disease" symptom

achondroplasia

coats disease

cystinuria

epidermolysis bullosa simplex

fabry disease

kabuki syndrome

lymphangioleiomyomatosis

pendred syndrome

proteus syndrome

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