Proteus syndrome: evaluation of the immunological profile
- PDF / 2,454,568 Bytes
- 5 Pages / 595.276 x 790.866 pts Page_size
- 4 Downloads / 192 Views
LETTER TO THE EDITOR
Open Access
Proteus syndrome: evaluation of the immunological profile Vassilios Lougaris1*, Vincenzo Salpietro2, Maricia Cutrupi2, Manuela Baronio1, Daniele Moratto3, M. R. Pizzino2, Kshitij Mankad4, Silvana Briuglia2, Carmelo Salpietro2 and Alessandro Plebani1
Abstract Proteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of different tissues. Prognosis of affected patients may be complicated by premature death, mostly due to pulmonary embolism and respiratory failure. To date, immunological data in Proteus syndrome are scarse. We report on the novel immunologic findings of a 15 years old girl affected with PS. Detailed T and B cell evaluation revealed maturational alterations for both subsets and functional hyperactivation for the latter. Such findings have not been reported previously in PS and may be the spy of more complex immune abnormalities in this syndrome. Keywords: Proteus syndrome, Overgrowth, B cells, T cells
Correspondence 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 [1–6]. Clinical manifestations are highly variable and the disproportionate overgrowth of tissue is usually asymmetrical and involves the arms, legs, hands, feet and digits. 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. 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 [3–5]. 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 [6]. Lesions appear to be distributed in a mosaic manner and have a progressive evolution. Recently, a mosaic activating mutation in AKT1 was reported to be associated with PS [7].
* Correspondence: [email protected] 1 Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Piazzale Spedali Civili 1, Brescia 25123, Italy Full list of author information is available at the end of the article
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 [8].
Case report We report the case of a 15 years old girl with Proteus syndrome and describe novel immunological findings in PS. 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). Diagnosis of PS was made at the age of 2 years, with progressive overgrowth over time. The inde
Data Loading...
