eMedicine Specialties > Dermatology > Pediatric Diseases

Winchester Syndrome: Treatment & Medication

Author: Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Coauthor(s): Janusz E Urban, MD, Associate Professor, Head of Division of Pediatric Dermatology, Departments of Dermatology and Venereology, Medical University of Lublin, Poland; Vice-President of Pediatric Dermatology, Polish Dermatology Society
Contributor Information and Disclosures

Updated: Jun 1, 2009

Treatment

Medical Care

To establish the final diagnosis of Winchester syndrome (WS), patients with findings suggestive of this pathologic syndrome should undergo examination by many specialists (see Consultations). Pamidronate does not improve peripheral osteolysis in multicentric osteolysis and nodular arthropathy caused by a mutation in the matrix metalloproteinase 2 gene.25

Consultations

  • To establish the final diagnosis and to plan further medical care, patients with findings suggestive of this pathologic syndrome require examinations by specialists, including a pediatrician, a radiologist, a rheumatologist, an orthopedist, an ophthalmologist, a neurologist, a dermatologist, a stomatologist, and a psychologist.
  • Families with this syndrome should be referred for adequate genetic counseling and consultations.

Activity

The activity of patients is limited because of the pathologic changes that occur in the joints of the limbs and in the backbone.

Medication

Treatment of the disease is symptomatic. The available literature provides little information regarding useful treatment modalities.

More on Winchester Syndrome

Overview: Winchester Syndrome
Differential Diagnoses & Workup: Winchester Syndrome
Treatment & Medication: Winchester Syndrome
Follow-up: Winchester Syndrome
Multimedia: Winchester Syndrome
References
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References

  1. Winchester P, Grossman H, Lim WN, Danes BS. A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. Am J Roentgenol Radium Ther Nucl Med. May 1969;106(1):121-8. [Medline].

  2. Brown SI, Kuwabara T. Peripheral corneal opacification and skeletal deformities. A newly recognized acid mucopolysaccharidosis simulating rheumatoid arthritis. Arch Ophthalmol. Jun 1970;83(6):667-77. [Medline].

  3. Hollister DW, Rimoin DL, Lachman RS, Cohen AH, Reed WB, Westin GW. The Winchester syndrome: a nonlysosomal connective tissue disease. J Pediatr. May 1974;84(5):701-9. [Medline].

  4. Hollister DW, Rimoin DL, Lachman RS, Westin GW, Cohen AH. The Winchester syndrome: clinical, radiographic and pathologic studies. Birth Defects Orig Artic Ser. 1974;10(10):89-100. [Medline].

  5. Nabai H, Mehregan AH, Mortezai A, Alipour P, Karimi FZ. Winchester syndrome: report of a case from Iran. J Cutan Pathol. Oct 1977;4(5):281-5. [Medline].

  6. Irani A, Shah BN, Merchant RH. The Winchester syndrome: (a case report). Indian Pediatr. Oct 1978;15(10):861-3. [Medline].

  7. Dunger DB, Dicks-Mireaux C, O'Driscoll P, et al. Two cases of Winchester syndrome: with increased urinary oligosaccharide excretion. Eur J Pediatr. Nov 1987;146(6):615-9. [Medline].

  8. Winter RM. Winchester's syndrome. J Med Genet. Dec 1989;26(12):772-5. [Medline].

  9. Lambert JC, Jaffray JY, Michalski JC, Ortonne JP, Paquis V, Saunieres AM. [Biochemical and ultrastructural study of two familial cases of Winchester syndrome]. J Genet Hum. Sep 1989;37(3):231-6. [Medline].

  10. Prapanpoch S, Jorgenson RJ, Langlais RP, Nummikoski PV. Winchester syndrome. A case report and literature review. Oral Surg Oral Med Oral Pathol. Nov 1992;74(5):671-7. [Medline].

  11. Cohen AH, Hollister DW, Reed WB. The skin in the Winchester syndrome. Arch Dermatol. Feb 1975;111(2):230-6. [Medline].

  12. Zankl A, Bonafe L, Calcaterra V, Di Rocco M, Superti-Furga A. Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet. Mar 2005;67(3):261-6. [Medline].

  13. Rouzier C, Vanatka R, Bannwarth S, et al. A novel homozygous MMP2 mutation in a family with Winchester syndrome. Clin Genet. Mar 2006;69(3):271-6. [Medline].

  14. Zankl A, Pachman L, Poznanski A, et al. Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res. Feb 2007;22(2):329-33. [Medline].

  15. Sidwell RU, Brueton LA, Grabczynska SA, Francis N, Staughton RC. Progressive multilayered banded skin in Winchester syndrome. J Am Acad Dermatol. Feb 2004;50(2 Suppl):S53-6. [Medline].

  16. Hemingway AP, Leung A, Lavender JP. Familial vanishing limbs: four generations of idiopathic multicentric osteolysis. Clin Radiol. Sep 1983;34(5):585-8. [Medline].

  17. Pai GS, Macpherson RI. Idiopathic multicentric osteolysis: report of two new cases and a review of the literature. Am J Med Genet. Apr 1988;29(4):929-36. [Medline].

  18. Tyler T, Rosenbaum HD. Idiopathic multicentric osteolysis. AJR Am J Roentgenol. Jan 1976;126(1):23-31. [Medline].

  19. Kozlowski K, Barylak A, Eftekhari F, Pasyk K, Wislocka E. Acroosteolysis. Problems of diagnosis--report of four cases. Pediatr Radiol. Apr 19 1979;8(2):79-86. [Medline].

  20. Lemaitre L, Remy J, Smith M, et al. Carpal and tarsal osteolysis. Pediatr Radiol. 1983;13(4):219-26. [Medline].

  21. Fayad MN, Yacoub A, Salman S, Khudr A, Der Kaloustian VM. Juvenile hyaline fibromatosis: two new patients and review of the literature. Am J Med Genet. Jan 1987;26(1):123-31. [Medline].

  22. Landing BH, Nadorra R. Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediatr Pathol. 1986;6(1):55-79. [Medline].

  23. Nezelof C, Letourneux-Toromanoff B, Griscelli C, Girot R, Saudubray JM, Mozziconacci P. [Painful disseminated fibromatosis (systemic hyalinosis): a new hereditary collagen dysplasia]. Arch Fr Pediatr. Dec 1978;35(10):1063-74. [Medline].

  24. Grover S, Grewal RS, Verma R, Mani NS, Mehta A, Sinha P. Winchester syndrome: a case report. Int J Dermatol. Feb 2009;48(2):175-7. [Medline].

  25. Phadke SR, Ramirez M, Difeo A, Martignetti JA, Girisha KM. Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. Clin Dysmorphol. Apr 2007;16(2):95-100. [Medline].

  26. Ball GV, Koopman WJ. Rheumatoid arthritis. In: Kelley WN, DeVita VT, DuPont HL, Harris ED, JR, et al, eds. Textbook of Internal Medicine. Philadelphia, Pa: Lippincott-Raven; 1989:974-81.

  27. Myers LK, Pinals RS. Arthritis in childhood. In: Summit RL, ed. Comprehensive Pediatrics. Toronto, Canada: Mosby; 1990:526-33.

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Further Reading

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Keywords

WS, Winchester's syndrome, mucopolysaccharidosis, dwarfism, bony-articular changes, corneal opacities, coarsened facial features, leathery skin, hypertrichosis

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Contributor Information and Disclosures

Author

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

Coauthor(s)

Janusz E Urban, MD, Associate Professor, Head of Division of Pediatric Dermatology, Departments of Dermatology and Venereology, Medical University of Lublin, Poland; Vice-President of Pediatric Dermatology, Polish Dermatology Society
Disclosure: Nothing to disclose.

Medical Editor

Albert C Yan, MD, Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania
Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, Society for Investigative Dermatology, and Society for Pediatric Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Jeffrey J Miller, MD, Associate Professor of Dermatology, Penn State University College of Medicine; Staff Dermatologist, Penn State Milton S Hershey Medical Center
Jeffrey J Miller, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Professors of Dermatology, North American Hair Research Society, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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