Proteus syndrome in a young African woman: a clinically diagnosed ultra-rare mosaic overgrowth disorder

Abstract

Proteus syndrome is an extremely rare congenital multisystem disorder characterized by highly variable clinical manifestations. Its exact prevalence remains unknown, with fewer than 200 cases reported in the medical literature worldwide. Clinical case description. We report the case of an 18-year-old African woman diagnosed with Proteus syndrome, presenting with marked asymmetrical overgrowth affecting the upper limbs, trunk, and lower limbs. The distribution of the deformities resembled the appearance of a tree trunk with multiple stumps. Additionally, the patient exhibited soft tissue tumor-like formations at the left oral commissure and in the left retroauricular region. Conclusion. The detailed phenotypic description of individuals with Proteus syndrome is essential due to the extreme rarity and clinical complexity of this disorder. Improved awareness and diagnostic acumen among healthcare professionals are critical for the early identification and appropriate multidisciplinary management of affected patients. Given the high risk of life-threatening complications, such as the development of malignant tumors and thromboembolic events, a structured and dynamic follow-up protocol is required. Moreover, the psychosocial dimension of the disease must not be overlooked. Many patients experience profound emotional distress, stigmatization, and moral suffering, which can significantly impact their quality of life. An integrated approach that combines medical surveillance with psychological and social support is imperative for optimizing long-term outcomes in Proteus syndrome.