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PROTEUS SYNDROME
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Radiology Cases in Pediatric Emergency Medicine Volume 7, Case 4
Craig T. Nakamura, MD
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Case |
This is a 16 year old female who presents to the emergency department with a two day history of coughing, productive for small amounts of thin, yellow mucous. She also has two episodes of mild hemoptysis each day (5 milliliters per episode). She had a low grade fever and clear rhinorrhea 5 days ago, which has resolved. She denies shortness of breath, wheezing, chest pain, headaches, malaise, chills, symptoms of reflux, weight loss, rashes, and joint pains. However, she does become dyspneic with prolonged activity. There are several family members with rhinorrhea and low grade fevers. There is no history of recent travel.
The patient has a history remarkable for lung cysts of unknown etiology. At the age of 10, she developed similar symptoms. A chest radiograph revealed bilateral cystic changes thought to be secondary to bronchiectasis. A follow-up film several months later reportedly showed a progression of the right middle lobe cyst. Bronchoscopy was normal and a TB skin test was negative. The cyst was surgically excised. Pathology revealed atrophic lung parenchyma lining the cyst and chronic nonspecific inflammation. No atypical cells were present.
Her birth history is unremarkable. A chest radiograph from infancy was normal. Her past medical history is significant for left hand hemihypertrophy which was noted shortly after birth. At 5 years of age, metal plates were placed in her left hand to retard the hemihypertrophy. As mentioned, a chest radiograph at 10 years of age revealed cystic lung disease and she underwent a resection of a right middle lobe cyst. Her family history is unremarkable for pulmonary, connective tissue, or genetic disorders.
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Examination
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T36.3, P 96, RR 24, BP 110/72, oxygen saturation 91%-95% in room air. Weight 39.7 kg (<5th percentile). Height 164 cm (70%ile).
She is a thin, well developed alert female in no distress. Skin: No rashes, lesions, thickened skin, or varicosities. Head: Normocephalic. EENT: Normal. Neck: No elongation or adenopathy. Chest: Symmetrical with normal anteroposterior diameter. No retractions. No scoliosis or kyphosis noted. Mild pectus excavatum is present. No tympany to percussion. A surgical scar is noted. Lungs: Mildly decreased breath sounds. No rhonchi, rales, or wheeze. No prolongation of the expiratory phase. Heart: Regular rate and rhythm. No murmur. Normal S2. No gallop. Abdomen: Benign. No organomegaly. Extremities: Enlarged left hand with long fingers. There is also joint enlargement involving her left hand. No other hemihypertrophy noted. Arterial blood gas: pH 7.39, pCO2 40, pO2 55, bicarbonate 24. Review her radiographs:
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Review her CXR at an early age.
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Review a later CXR..
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Review her current CXR.
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Review her hand radiographs
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The patient was hospitalized for further evaluation of her cystic lung disease as well as treatment of her hypoxemia. A genetics evaluation was obtained upon admission.
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Discussion
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The name, Proteus syndrome, was coined by Wiedemann in 1983 after the Greek sea God, Proteus (1). As the son of Poseidon, Proteus possessed the ability to transform himself into any shape to avoid prophesying the futures of the mortals who hounded him. Like the Greek God, this syndrome manifests itself in many ways. The most famous patient afflicted with Proteus syndrome was Joseph Merrick, better known as the "Elephant Man" (2). Proteus syndrome is an uncommon clinical entity characterized by abnormalities in growth (asymmetric overgrowth, increased stature, macrodactyly, soft tissue hypertrophy, elongated neck, macrocephaly), skin (plantar and palmar skin thickening, epidermal nevi, lipomas, lymphangiomas, hemangiomas, caf‚ au lait spots, varicosities, dermal hypoplasia), musculoskeletal (hemihypertrophy, bony prominences, ankle ankylosis, craniosynostosis, mandibular prognathia, scoliosis, pectus excavatum, thinning of the cortical layer of long bones), eye (ptosis, strabismus, nystagmus, myopia, colobomas, cataracts, epibulbar dermoids, blue sclera), central nervous system (seizures, mental retardation), venous (varicosities, hemorrhoids, dilated superior mesenteric and pulmonary veins) and as in this patient, cystic lung disease (3-7).
Patients afflicted with Proteus syndrome frequently appear normal at birth. Features begin to appear during the first year of life with subsequent progression. The etiology of Proteus syndrome remains unknown. The majority of patients have a normal chromosomal complement. However, it has been suggested that there may be a mosaic somatic mutation affecting the regulation of tissue growth factors, leading to the associated polymorphic characteristics of this disease (8-12). We will focus on the pulmonary disease and chest radiographic findings associated with Proteus syndrome.
The most striking radiographic finding are cystic lung lesions (1,2,5,13). These cysts can be quite large and may be distributed unilaterally or bilaterally. There is no preference for any particular lobe to be involved. Another reported finding is the prominence of pulmonary markings with obstructive lung parenchymal changes (4). The chest radiograph may also reveal dilated pulmonary veins, scoliosis (2), kyphosis (4), dysplastic or enlarged thoracic vertebrae (14), rib hypertrophy (12,15), and soft tissue masses (16).
The differential of cystic lung disease includes bronchopulmonary dysplasia (17), bronchogenic cysts (18), Marfan syndrome (19,20), neurofibromatosis (21), tuberous sclerosis (22), bronchiectasis, pneumatoceles, pneumoconiosis, alpha-1-antitrypsin deficiency (23), cystic adenomatoid malformation (24), histiocytosis X (25), and sarcoidosis (26).
The morbidity and mortality risk of pulmonary cysts in Proteus syndrome is unknown. Treatment generally focuses on minimizing further lung damage and avoiding infection of the cysts to prevent respiratory compromise. If these attempts prove to be unsuccessful, lung transplantation may be an option (5,27). In the future, further efforts may be made to further delineate the exact etiology of this syndrome, which may suggest alternate forms of therapy.
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References
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- Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HG, Schirg E. The proteus syndrome. European Journal of Pediatrics 1983;140:5-12.
- Tibbles JAR, Cohen MM Jr. The proteus syndrome: The elephant man diagnosed. British Medical Journal 1986;293:683-685.
- Proteus Syndrome. In: Jones KL. Smith's Recognizable Patterns of Human Malformation. 4th edition. Philadelphia, PA, W.B. Saunders, 1988, pp. 458-459.
- Barona-Mazuera M, Hidalgo-Galvan LR, Orozco-Covarrubias M, Duran-McKinster C, Tamayo-Sanchez L, Ruiz-Maldonado R. Proteus syndrome: New findings in seven patients. Pediatric Dermatology 1997;14(1):1-5.
- Fay JT, Schow SR. A possible cause of Maffucci's syndrome: Report of a case. J Oral Surg 1968;26:739-744.
- Newman B, Urbach AH, Orenstein D, Dickman PS. Proteus syndrome: Emphasis on the pulmonary manifestations. Pediatric Radiology 1994;24:189-193.
- Happle R, Steijlen PM, Theile U, Karitzky D, Tinschert S, Albrecht-Nebe H, Kuster W. Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome. Arch Dermatol 1997;133:77-80.
- Lezama DB, Buyse ML. The proteus syndrome: The emergence of an entity. J Clin Dysmorphol 1984;2:10-13.
- Samlaska CP, Levin SW, James WD, Benson PM, Walker JC, Perlik PC. Proteus syndrome. Arch Dermatol 1989;125:1109.
- Say B, Carpenter NJ. Report of a case resembling the Proteus syndrome with a chromosome abnormality. Am J Med Genet 1988;31:987-989.
- Happle R. Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. Am Acad Dermatol 1987;16:899-906.
- Clark RD, Donnai D, Rogers J, Cooper J, Baraitser M. Proteus syndrome: An expanded phenotype. Am J Med Genet 1987; 27:99-117.
- Bender BL, Unis E. Fibrocartilaginous lesions of bone and hemangiomas and lipomas of soft tissue resembling Maffucci's syndrome. J Bone Joint Surg 1979;61:1104-1108.
- Azouz EM, Costa T, Fitch N. Radiologic findings in the Proteus syndrome. Pediatric Radiology 1987;17:481-485.
- Cremin BJ, Viljoen DL, Wynchank S, Beighton P. The Proteus syndrome: The magnetic resonance and radiological features. Pediatric Radiology 1987;17:486-488.
- Bialer MG, Riedy MJ, Wilson WG. Proteus syndrome versus Bannayan-Zonana syndrome: A problem in differential diagnosis. Eur J Pediatr 1988;148:122-125.
- Karmazin N, Panitch HB, Balsara RK, Faerber EN, de Chadarevian JP. De novo circumscribed pulmonary lobar cystic anomaly in a young boy. A possible sequela of bronchopulmonary dysplasia. Chest 1989;95(5):1162-1163.
- Raymond GS, Logan PM. Congenital thoracic masses: Imaging features in the adult. Crit Rev Diagn Imaging 1997;38(2):115-205.
- Wood JR, Bellamy D, Child AH, Citron KM. Pulmonary disease in patients with Marfan syndrome. Thorax 1984;39:780-784.
- Day DL, Burke BA. Pulmonary emphysema in a neonate with Marfan syndrome. Pediatric Radiology 1986;16:518-521.
- Webb WR, Goodman PC. Fibrosing alveolitis in patients with neurofibromatosis. Radiology 1977;122:289-293.
- Dwyer JM, Hickie JB, Garvan J. Pulmonary tuberous sclerosis. Report of three patients and a review of the literature. Quart J Med 1971;40:115-125.
- Eriksson S. Studies in alpha-1-antitrypsin deficiency. Acta Med Scand 1965;432(suppl):1-85.
- Nokes SR, Pierce WB. Radiological case of the month. Cystic adenomatoid malformation. J Ark Med Soc 1996;92(9):469-470.
- Smith M, McCormack LJ, Van Ordstrand HS, Effler DB, Groves LK. "Primary" pulmonary histiocytosis X. Chest 1974;65:176-180.
- Ellis K, Renthal G. Pulmonary sarcoidosis: Roentgenographic observations on course of disease. Am J Roentgenol 1962;88:11070-1083.
- Armitage JM, Kurland G, Michaels M, Cipriani LA, Griffith BP, Fricker F. Critical issues in pediatric lung transplantation. Journal of Thoracic and Cardiovascular Surgery 1995;109(1): 60-65.
Copyrighted: Radiology Cases in Pediatric Emergency Medicine Volume 7, Case 4
Loren Yamamoto, MD, MPH, Professor of Pediatrics, University of Hawaii John A. Burns School of Medicine.Loreny@hawaii.edu
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