eMedicine Specialties > Dermatology > Pediatric Diseases

Winchester Syndrome: Follow-up

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

Follow-up

Further Inpatient Care

  • Physiotherapy is advised for Winchester syndrome (WS) patients.
  • Some individuals with Winchester syndrome require orthopaedic equipment.

Further Outpatient Care

  • Physiotherapy is advised.
  • Some individuals with Winchester syndrome require orthopedic equipment.

Inpatient & Outpatient Medications

  • Medication in the treatment of Winchester syndrome is symptomatic.

Complications

  • Intensified symptoms of osteoporosis, including osteolysis of the carpal and tarsal bones, causes destructive changes in the joints of the hands and wrists, as well as in the joints of the tarsus and foot.
  • Aggravated osteoporosis of the vertebral bodies may lead to compressive fractures of the backbone.
  • In the knee and hip joints, strong contractures can hinder movement.4,11
  • Multifocal bony-articular changes can lead to permanent disability.
  • Weakening of vision as a consequence of intensified cataracts can occur.

Prognosis

  • The disease has a progressive course with aggravating bony-articular, ocular, and cutaneous changes.

Miscellaneous

Medicolegal Pitfalls

  • Knowledge of the pathologic changes of the course of Winchester syndrome helps to prevent diagnostic error.
    • In the initial stage, bony-articular changes in patients with Winchester syndrome may suggest juvenile arthrosis.
    • Generalized disturbances of bone tissue, growth inhibition, peripheral corneal opacity, coarseness of facial features, and other changes of the skin on the trunk and limbs that accompany the articular changes help in establishing the proper diagnosis.
  • Parents and custodians should be informed of the chronic progressive course of the disease, which may lead to disability.

Special Concerns

  • Winchester syndrome with multiorgan changes that occur in infancy and early childhood requires special attention to the coordination of care by family physicians, as well as pediatricians and dermatologists; these physicians may be the first to notice the onset of pathologic changes.
  • Knowledge of the clinical findings of this syndrome helps in accurately diagnosing and differentiating the syndrome from rheumatoid arthritis.
 


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

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  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].

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  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].

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  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.

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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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