During follow-up, the patient developed portal thrombosis at 12 years of age with portal splenic and mesenteric hypertension and liver atrophy and suffered from a transient ischemic attack (TIA) at the age of 13. 1c), emphysema, pulmonary fibrosis, syringomyelic cavity of about 2 cm in the section C3-D4, and ovarian cystadenomas. 1b) and length discrepancy and macrodactyly in the III and IV fingers of right hand (Fig. The patient also presented severe kyphoscoliosis (Fig. 1a, left panel) with greater growth of the calcaneus and cuboid, especially of the left foot (Fig. The index patient presented important overgrowth of the feet (Fig. The patient presented thin skin, adipose dysregulation with poorly represented subcutaneous adipose and a disproportionate, asymmetric overgrowth of the limbs. The phenotypic examination showed dolichocephaly, hyperostosis of the skull in the right fronto-parietal area, facial dysmorphic features with facial asymmetry and ptosis of right eye, depressed nasal bridge, wide and anteverted nares, oligodontia and multiple caries, long neck. The index patient presented multiple lesions affecting the central nervous and circulatory system, lung, skeleton, limbs and abdominal organs. Diagnosis of PS was made at the age of 2 years, with progressive overgrowth over time. The index patient, born to non consanguineous parents, was born via caesarian section at 36 weeks of gestation, with normal weight and length (3500 g and 50 cm, respectively). We report the case of a 15 years old girl with Proteus syndrome and describe novel immunological findings in PS. Published immunological data for PS are scarse: in fact, only one patient has been reported to date with mild hypogammaglobulinemia and lymphopenia leading to reduction of total T and B cell numbers. Recently, a mosaic activating mutation in AKT1 was reported to be associated with PS. Lesions appear to be distributed in a mosaic manner and have a progressive evolution. Newborns with Proteus syndrome have few or no signs of the condition, and overgrowth becomes apparent between 6 and 18 months of life, getting more severe with age. The syndrome has an incidence of less than 1 per 1,000.000 live births and is estimated that 120 individuals with PS are currently alive worldwide. The complications of PS include hyperostosis, cerebriform connective tissue progressive, skeletal deformities, benign and malignant tumors, capillary vascular malformations and deep venous thrombosis with pulmonary embolism. Clinical manifestations are highly variable and the disproportionate overgrowth of tissue is usually asymmetrical and involves the arms, legs, hands, feet and digits. The Proteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of various tissues, mainly connective tissue, bone, skin, and central nervous system, although any tissue may be involved.
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