Abstract | April 14, 2023

Proteus Syndrome in a Young Adolescent

Miriam Matthews, MB BCh BAO

Miriam Matthews, Medical Student, University College Dublin, Dublin, Ireland; Laura Rosas, MD, Resident Physician, Psychiatry Department, University of Chicago, Chicago, IL; Lynnette Mazur, MD, MPH, Professor Emeritus, McGovern Medical School, Houston, TX

Learning Objectives

  1. Describe a rare condition with less than 200 cases published in literature
  2. Differentiate between Proteus syndrome and other overgrowth syndromes that can present similarly

Introduction Proteus syndrome (PS) is a rare, progressive, asymmetric overgrowth syndrome that presents with symptoms of varying severity. PS most commonly affects the limbs and occasionally presents with hamartomas and vascular malformations. It was named by Hans-Rudolf-Wiedemann in 1983 after the Greek shapeshifter God Proteus, and it is thought that Joseph Merrick (the so-called “Elephant Man”) had PS. Case presentation

This case report presents a 13-year-old boy with progressive enlargement of the left leg that was initially mistaken for filariasis. The boy’s physical examination was remarkable for a body mass index greater than 95% for his age, enlargement of his left leg with areas of cratered scars below the knee, and a leg-length discrepancy. He had no macrocephaly, ocular anomalies, hemangiomas, nevi, or scoliosis.

Final/Working Diagnosis

The differential diagnoses included hemihyperplasia, Proteus syndrome (PS), and Klippel Trenaunay syndrome (KTS). Because of the progressive enlargement of the leg and lack of vascular markings, PS was considered the most likely diagnosis. One pathognomonic sign is the presence of cerebriform connective tissue nevi (CCTN) that most commonly appear on the palms and soles. The lesions have not been observed at birth but develop slowly during adolescence. Their presence also distinguishes PS from KTS. Management/Outcome/and or Follow-up.

Complications vary in severity and may include dermatologic malformations, central nervous system manifestations, pulmonary emboli, skeletal overgrowth, and deep venous thromboses (DVT). When possible, consultations with genetics, pediatrics, dermatology, and orthopedics are helpful. Patients and caregivers may feel isolated because of progressive disfiguring, so all may benefit from referral to behavioral health care providers and family support groups. Due to the progressive nature and risk of complications, such as limb length discrepancy, deep venous thromboses, skin ulcerations, and malignant neoplasms, PS should be considered in a differential diagnosis with other overgrowth syndromes. The life expectancy for PS depends on the severity of the complications but ranges between 9 months and 29 years. The patient’s father was informed of the possible complications and was given a guarded prognosis and life expectancy of a patient with PS.

References

  1. Biesecker LG, Sapp JC. Proteus syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews (internet). University of Washington, Seattle; 2019.
  2. Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. The proteus syndrome. Eur J Pediatr. 1983;140(1):5-12. doi:10.1007/BF00661895





Back to Abstracts