eMedicine Specialties > Dermatology > Pediatric Diseases

Winchester Syndrome: Multimedia

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

Multimedia

(A) Case 1. Girl aged 2.5 years. Destruction of t...
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Media file 1: (A) Case 1. Girl aged 2.5 years. Destruction of the carpal ossification centers that have appeared early is visible. (B) Case 1. Girl aged 6 years. The carpals are totally destroyed, and erosion of the proximal metacarpals is seen. The phalanges are expanded and appear cystic. Destructive arthritis is observed in the metacarpal, phalangeal, and interphalangeal joints. (C) Case 1. Girl aged 12 years. Only small portions of the metacarpals remain, and destruction of the phalanges of the fifth finger has occurred. The distal radius and ulna are flared. Courtesy of Patricia Winchester, MD, Departments of Radiology, Pediatrics, and Medicine, Cornell University Medical College and the New York Hospital, Cornell Medical Center, 525 East 68th Street, New York, NY 10021.
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(A) Case 1. Girl aged 2.5 years. Destruction of t...

(A) Case 1. Girl aged 2.5 years. Destruction of the carpal ossification centers that have appeared early is visible. (B) Case 1. Girl aged 6 years. The carpals are totally destroyed, and erosion of the proximal metacarpals is seen. The phalanges are expanded and appear cystic. Destructive arthritis is observed in the metacarpal, phalangeal, and interphalangeal joints. (C) Case 1. Girl aged 12 years. Only small portions of the metacarpals remain, and destruction of the phalanges of the fifth finger has occurred. The distal radius and ulna are flared. Courtesy of Patricia Winchester, MD, Departments of Radiology, Pediatrics, and Medicine, Cornell University Medical College and the New York Hospital, Cornell Medical Center, 525 East 68th Street, New York, NY 10021.

Case 1. Girl aged 12 years. The knees are ankylos...
(Enlarge Image)
Media file 2: Case 1. Girl aged 12 years. The knees are ankylosed. The ends of the long bones are flared. The bone density is markedly diminished. The left distal fibula is eroded. Destruction of the small bones of the foot is seen. Courtesy of Patricia Winchester, MD, Departments of Radiology, Pediatrics, and Medicine, Cornell University Medical College and the New York Hospital, Cornell Medical Center, 525 East 68th Street, New York, NY 10021.
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Case 1. Girl aged 12 years. The knees are ankylos...

Case 1. Girl aged 12 years. The knees are ankylosed. The ends of the long bones are flared. The bone density is markedly diminished. The left distal fibula is eroded. Destruction of the small bones of the foot is seen. Courtesy of Patricia Winchester, MD, Departments of Radiology, Pediatrics, and Medicine, Cornell University Medical College and the New York Hospital, Cornell Medical Center, 525 East 68th Street, New York, NY 10021.

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].

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  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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  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.

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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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