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Overview

Practice Essentials

Winchester syndrome (WS) is a syndrome of pathologic changes consisting of dwarfism (resulting from disturbances of the skeletal-articular system), corneal opacities, coarsening of facial features, leathery skin, and hypertrichosis. It is one of the inherited osteolyses, or “vanishing bone” syndromes.^[1]

A recent case of Winchester syndrome was in a 40-year-old woman from the United States; this woman had additional dental disorders with inflammation of the gums. The data in patients with Winchester syndrome are presented in the Table below.

Table. Clinical Features of Patients with Winchester syndrome^a (Open Table in a new window)

Clinical Feature	Winchester et al, 1969 ^[2]		Hollister et al, 1974 ^{[3, 4]}			Nabai et al, 1977 ^[5]	Irani et al, 1978 ^[6]	Dunger et al, 1987 ^[7]		Prapanpoch et al, 1992 ^[8]
Clinical Feature	Case 1	Case 2	Case 1	Case 2	Case 3	Case 1	Case 1	Case 1	Case 2^b	Case 1
Sex	F	F	F	F	M	M	M	F	F	F
Age	12 y	3.5 y	9.5 y	8 y	22 y	3 mo	4 y	2	16 y	40 y
Onset	2 mo	1 y	1 y	1 mo	1 y	1 mo	1 y	1 mo	1 y	ND
Consanguinity	Yes	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes	ND
Skin changes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Coarse face	Yes	Yes	No	No	Yes	Other^c	No	Yes	Yes	Yes
Thickened facial skin	No	No	Yes	Yes	Yes	Yes	No	Yes	No	Yes
Hyperpigmented patches	No	No	Yes	Yes	Yes	Yes	Yes	No	No	No
Skin nodules	No	No	Yes	No	No	No	No	Yes	No	No
Corneal opacity	Yes	Yes	Yes	Yes	Yes	No	No	No	No	Yes^d
Gum hypertrophy	Yes	Yes	Yes	Yes	ND	Yes	No	Yes	Yes	No
Short stature	Yes	Yes	Yes	Yes	Yes	No	ND	Yes	Yes	Yes
Flexion contractures	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Osteoporosis (visible on radiographs)	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Osteolysis of the carpal and tarsal bones	Yes	Yes	Yes	Yes	Yes	No	Yes	Yes	Yes	Yes
Abnormal test results^e	No	No	No	IgM	IgM	IgM^f	No	Yes^g	Yes^g	No
Patient location	USA	USA	Mexico	Mexico	Mexico	Iran	India	Iran^h	India^h	USA
^a Winter, 1989; completed by Urban. ND indicates no data. ^b Additional clinical details obtained at repeat examination by Winter. ^c Upper lip was hypertrophic. ^d Glaucoma was present. ^e Increased immunoglobulin M (IgM) levels were observed. ^f Increased para-amino-isobutyric acid, leucine, and proline levels in the urine. ^g Abnormal oligosaccharide in the urine. ^h Cases reported in Great Britain.

Etiology

Winchester syndrome is an inherited familial disorder transmitted in an autosomal recessive manner. Isolated cases without familial occurrence are described. The molecular causes of the pathologic changes are unknown. Hollister et al^[4] and Cohen et al^[9] emphasize the abnormal function of the fibroblasts, which causes some of the pathologic changes in this syndrome.

Prognosis

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

Complications

Anesthesia management can be challenging in these patients.^[10]

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, 9]} Multifocal bony-articular changes can lead to permanent disability.

Weakening of vision as a consequence of intensified cataracts can occur.

Diagnostics

To verify diagnosis of Winchester syndrome, skin and gum biopsy specimens should be collected for histologic and ultrastructural assessment.

Also see Workup.

Treatment

To establish the final diagnosis of Winchester syndrome, 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.^[11]

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 spine.

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

Background

In 1969, Winchester et al first described pathologic changes in 2 sisters aged 3.5 and 12 years, the offspring of first cousins. These sisters were reported to have "a new acid mucopolysaccharidosis" with skeletal deformities that simulated rheumatoid arthritis.^[2]Later, Brown and Kuwabara^[12]performed corneal biopsy in the younger sibling, whose case is discussed in the report by Winchester et al^[2]; the results were characteristic of the mucopolysaccharidoses.

In 1974, Hollister et al reported 3 cases of this disease in consanguineous relatives from Mexico: 2 sisters aged 8 and 9.5 years and their 22-year-old cousin.^{[3, 4]}The authors first called the constellation of findings Winchester syndrome. In particular, they noted skin changes in the trunk and extremities that Winchester et al did not report.^[2]In 1977, Nabai described a sixth patient, a 3-month-old boy from Iran.^[5]In 1978, Irani et al reported a similar case in a 4-year-old boy from Bombay.^[6]In both cases, the parents were first cousins.

In 1987, Dunger et al reported 2 additional cases.^[7]The first patient had features similar to those of infantile systemic hyalinosis; Winter also emphasized these features.^[13]The other patient was a 16-year-old male adolescent. Lambert et al presented a subsequent report on 2 cases in siblings, a girl aged 13 months and a girl aged 12 years, in France.^[14]

Pathophysiology

Winchester syndrome appears to be inherited in an autosomal recessive manner.^{[2, 9]}The specific cause of the changes has not been clarified. The changes that occur in this syndrome are presumed to be a consequence of metabolic disturbances of glycosaminoglycans. The syndrome is believed to be a mucopolysaccharidosis with unknown enzymatic disturbances.^{[2, 8, 9]}Dunger et al found an abnormal oligosaccharide consisting of a molecule of fucose and 2 molecules of galactose in the urine of 2 patients with Winchester syndrome.^[7]

Studies performed by Hollister et al^[3]and Cohen et al^[9]did not reveal morphologic evidence of lysosomal storage. These authors believe that metachromasia of the fibroblasts and a 2-fold increase in the uronic acid content in these fibroblasts^[2]are not sufficient evidence for diagnosing mucopolysaccharidosis because uronic acid is also observed in as many as 27% of healthy people.

In patients with established diagnosis of a disease that has features of mucopolysaccharidosis, the uronic acid level is 5-10 times greater than that of the control group.^{[3, 9]}The authors believe that Winchester syndrome is a disease that should be classified as a nonlysosomal connective-tissue disturbance and not as a form of acid mucopolysaccharidosis. Their results suggest that fibroblasts play a major role in this syndrome of pathologic changes. Corneal opacities; leathery skin; abnormal collagen in the dermis; and, possibly, contractures are likely manifestations of anomalous fibroblast functions. The authors recommend further studies to determine the pathogenesis of this autosomal recessive disorder.

A homozygous missense mutation (E404K) in the active site of matrix metalloproteinase 2 was found in a 21-year-old woman with a severe form of osteolysis best compatible with a diagnosis of Winchester syndrome.^[15]A novel homozygous MMP2 mutation was identified in a family with Winchester syndrome.^[16]Torg syndrome, nodulosis-arthropathy-osteolysis, and Winchester syndrome may be allelic disorders.^[17]These 2 syndromes are both associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene.^{[18, 19]}Five novel MMP2 mutations in 13 individuals with multicentric osteolysis nodulosis and arthropathy were identified in India.^[20]

Homozygous mutations in membrane type-1 metalloproteinase (MT1-MMP or MMP14) were shown in one patient, an inactivating homoallelic mutation of MT1-MMP, with the resulting hydrophobic-region signal-peptide substitution (p.Thr17Arg) decreasing MT1-MMP membrane localization and with consequent impairment of pro-MMP2 activation.^[1]A homozygous frameshift variant of MMP2 gene has been described.^[21]MMP14 catalytic activity appears to be the main determinant of the Winchester syndrome phenotype.^[22]

Frequency

United States

In the United States, 3 cases were described.

International

Cases in 3 Mexican patients are described (published in the United States). Two cases are described in France; 1 case, in India; 1 case, in Iran; and 2 cases, in Great Britain. The 2 cases in Great Britain involved patients from Iran (case 1) or India (case 2).^[7]See the Table in Background.

In a 32-year period from 1969-2001, 12 cases of Winchester syndrome are described worldwide.

Race-, sex-, and age-related information

No racial predisposition is recognized.

Winchester syndrome appears to be more common in women than in men, with a female-to-male ratio of 3:1 (9 women, 3 men). The data presented in the Table in Background do not include 2 cases described by Lambert et al.^[14]

The initial changes in the bony-articular system may be observed in infants usually when they are aged about 1 year. In 4 patients, the initial changes occurred earlier. In 3 patients, changes occurred when they were aged 1 month, the fourth patient was aged 2 months when the changes occurred. Winchester syndrome was usually diagnosed in the described cases when the patients were aged 3.5-16 years. In 1 case, the syndrome was recognized in an infant aged 3 months,^[5]and in the other 2 cases, the patients were aged 22 and 40 years (see the Table in Practice Essentials).

Clinical Presentation

Evans BR, Mosig RA, Lobl M, Martignetti CR, Camacho C, Grum-Tokars V, et al. Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. Am J Hum Genet. 2012 Sep 7. 91(3):572-6. [QxMD MEDLINE Link]. [Full Text].
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. 1969 May. 106(1):121-8. [QxMD MEDLINE Link].
Hollister DW, Rimoin DL, Lachman RS, Cohen AH, Reed WB, Westin GW. The Winchester syndrome: a nonlysosomal connective tissue disease. J Pediatr. 1974 May. 84(5):701-9. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Nabai H, Mehregan AH, Mortezai A, Alipour P, Karimi FZ. Winchester syndrome: report of a case from Iran. J Cutan Pathol. 1977 Oct. 4(5):281-5. [QxMD MEDLINE Link].
Irani A, Shah BN, Merchant RH. The Winchester syndrome: (a case report). Indian Pediatr. 1978 Oct. 15(10):861-3. [QxMD MEDLINE Link].
Dunger DB, Dicks-Mireaux C, O'Driscoll P, et al. Two cases of Winchester syndrome: with increased urinary oligosaccharide excretion. Eur J Pediatr. 1987 Nov. 146(6):615-9. [QxMD MEDLINE Link].
Prapanpoch S, Jorgenson RJ, Langlais RP, Nummikoski PV. Winchester syndrome. A case report and literature review. Oral Surg Oral Med Oral Pathol. 1992 Nov. 74(5):671-7. [QxMD MEDLINE Link].
Cohen AH, Hollister DW, Reed WB. The skin in the Winchester syndrome. Arch Dermatol. 1975 Feb. 111(2):230-6. [QxMD MEDLINE Link].
Sharma A, Sharma P, Sasidharan S. Anaesthesia management for Winchester syndrome. Indian J Anaesth. 2021 Feb. 65 (2):165-167. [QxMD MEDLINE Link]. [Full Text].
Phadke SR, Ramirez M, Difeo A, Martignetti JA, Girisha KM. Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. Clin Dysmorphol. 2007 Apr. 16(2):95-100. [QxMD MEDLINE Link].
Brown SI, Kuwabara T. Peripheral corneal opacification and skeletal deformities. A newly recognized acid mucopolysaccharidosis simulating rheumatoid arthritis. Arch Ophthalmol. 1970 Jun. 83(6):667-77. [QxMD MEDLINE Link].
Winter RM. Winchester's syndrome. J Med Genet. 1989 Dec. 26(12):772-5. [QxMD MEDLINE Link].
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. 1989 Sep. 37(3):231-6. [QxMD MEDLINE Link].
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. 2005 Mar. 67(3):261-6. [QxMD MEDLINE Link].
Rouzier C, Vanatka R, Bannwarth S, et al. A novel homozygous MMP2 mutation in a family with Winchester syndrome. Clin Genet. 2006 Mar. 69(3):271-6. [QxMD MEDLINE Link].
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. 2007 Feb. 22(2):329-33. [QxMD MEDLINE Link].
Gok F, Crettol LM, Alanay Y, et al. Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. Eur J Pediatr. 2010 Mar. 169(3):363-7. [QxMD MEDLINE Link].
Jeong SY, Kim BY, Kim HJ, Yang JA, Kim OH. A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. J Hum Genet. 2010 Nov. 55(11):764-6. [QxMD MEDLINE Link].
Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, et al. Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. Am J Med Genet A. 2016 Feb. 170A (2):410-7. [QxMD MEDLINE Link].
Elsebaie H, Mansour MA, Elsayed SM, et al. Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations. Bone Rep. 2021 Dec. 15:101106. [QxMD MEDLINE Link]. [Full Text].
de Vos IJHM, Tao EY, Ong SLM, Goggi JL, Scerri T, Wilson GR, et al. Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype. Hum Mol Genet. 2018 Aug 15. 27 (16):2775-2788. [QxMD MEDLINE Link].
Sidwell RU, Brueton LA, Grabczynska SA, Francis N, Staughton RC. Progressive multilayered banded skin in Winchester syndrome. J Am Acad Dermatol. 2004 Feb. 50(2 Suppl):S53-6. [QxMD MEDLINE Link].
Zeng C, Lin Y, Lu Z, Chen Z, Jiang X, Mao X, et al. Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review. BMC Musculoskelet Disord. 2020 Mar 6. 21 (1):154. [QxMD MEDLINE Link].
Cortés-Martín J, Díaz-Rodríguez L, Piqueras-Sola B, Rodríguez-Blanque R, Bermejo-Fernández A, Sánchez-García JC. Hajdu-Cheney Syndrome: A Systematic Review of the Literature. Int J Environ Res Public Health. 2020 Aug 25. 17 (17):[QxMD MEDLINE Link].
Hemingway AP, Leung A, Lavender JP. Familial vanishing limbs: four generations of idiopathic multicentric osteolysis. Clin Radiol. 1983 Sep. 34(5):585-8. [QxMD MEDLINE Link].
Pai GS, Macpherson RI. Idiopathic multicentric osteolysis: report of two new cases and a review of the literature. Am J Med Genet. 1988 Apr. 29(4):929-36. [QxMD MEDLINE Link].
Tyler T, Rosenbaum HD. Idiopathic multicentric osteolysis. AJR Am J Roentgenol. 1976 Jan. 126(1):23-31. [QxMD MEDLINE Link].
Al Kaissi A, Scholl-Buergi S, Biedermann R, Maurer K, Hofstaetter JG, Klaushofer K, et al. The diagnosis and management of patients with idiopathic osteolysis. Pediatr Rheumatol Online J. 2011 Oct 13. 9:31. [QxMD MEDLINE Link]. [Full Text].
Chang KJ, Yang MH, Li B, Huang H. Surgical management of Gorham-Stout syndrome involving the cervical spine with bilateral pleural effusion: A case report and literature review. Exp Ther Med. 2020 Jun. 19 (6):3851-3855. [QxMD MEDLINE Link].
Kozlowski K, Barylak A, Eftekhari F, Pasyk K, Wislocka E. Acroosteolysis. Problems of diagnosis--report of four cases. Pediatr Radiol. 1979 Apr 19. 8(2):79-86. [QxMD MEDLINE Link].
Lemaitre L, Remy J, Smith M, et al. Carpal and tarsal osteolysis. Pediatr Radiol. 1983. 13(4):219-26. [QxMD MEDLINE Link].
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. 1987 Jan. 26(1):123-31. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. 1978 Dec. 35(10):1063-74. [QxMD MEDLINE Link].
Ravikumar VR, Veerappan Ramamoorthi RG, Manisankar S. Juvenile hyaline fibromatosis in siblings. Indian J Pathol Microbiol. 2019 Apr-Jun. 62 (2):300-302. [QxMD MEDLINE Link].
Haidar Z, Temanni R, Chouery E, Jitesh P, Liu W, Al-Ali R, et al. Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. BMC Genet. 2017 Jan 19. 18 (1):3. [QxMD MEDLINE Link].
Grover S, Grewal RS, Verma R, Mani NS, Mehta A, Sinha P. Winchester syndrome: a case report. Int J Dermatol. 2009 Feb. 48(2):175-7. [QxMD MEDLINE Link].
Krasuska-Sławińska E, Polnik D, Rokicki D, Koeber B. Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report. J Oral Maxillofac Surg. 2015 Oct. 73 (10):1962.e1-5. [QxMD MEDLINE Link].
Vanatka R, Rouzier C, Lambert JC, Leroux C, Coussement A. Winchester syndrome: the progression of radiological findings over a 23-year period. Skeletal Radiol. 2011 Mar. 40(3):347-51. [QxMD MEDLINE Link].

Media Gallery

(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 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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Table. Clinical Features of Patients with Winchester syndrome^a

Table. Clinical Features of Patients with Winchester syndrome ^a

Clinical Feature	Winchester et al, 1969 ^[2]		Hollister et al, 1974 ^{[3, 4]}			Nabai et al, 1977 ^[5]	Irani et al, 1978 ^[6]	Dunger et al, 1987 ^[7]		Prapanpoch et al, 1992 ^[8]
Clinical Feature	Case 1	Case 2	Case 1	Case 2	Case 3	Case 1	Case 1	Case 1	Case 2^b	Case 1
Sex	F	F	F	F	M	M	M	F	F	F
Age	12 y	3.5 y	9.5 y	8 y	22 y	3 mo	4 y	2	16 y	40 y
Onset	2 mo	1 y	1 y	1 mo	1 y	1 mo	1 y	1 mo	1 y	ND
Consanguinity	Yes	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes	ND
Skin changes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Coarse face	Yes	Yes	No	No	Yes	Other^c	No	Yes	Yes	Yes
Thickened facial skin	No	No	Yes	Yes	Yes	Yes	No	Yes	No	Yes
Hyperpigmented patches	No	No	Yes	Yes	Yes	Yes	Yes	No	No	No
Skin nodules	No	No	Yes	No	No	No	No	Yes	No	No
Corneal opacity	Yes	Yes	Yes	Yes	Yes	No	No	No	No	Yes^d
Gum hypertrophy	Yes	Yes	Yes	Yes	ND	Yes	No	Yes	Yes	No
Short stature	Yes	Yes	Yes	Yes	Yes	No	ND	Yes	Yes	Yes
Flexion contractures	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Osteoporosis (visible on radiographs)	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Osteolysis of the carpal and tarsal bones	Yes	Yes	Yes	Yes	Yes	No	Yes	Yes	Yes	Yes
Abnormal test results^e	No	No	No	IgM	IgM	IgM^f	No	Yes^g	Yes^g	No
Patient location	USA	USA	Mexico	Mexico	Mexico	Iran	India	Iran^h	India^h	USA
^a Winter, 1989; completed by Urban. ND indicates no data. ^b Additional clinical details obtained at repeat examination by Winter. ^c Upper lip was hypertrophic. ^d Glaucoma was present. ^e Increased immunoglobulin M (IgM) levels were observed. ^f Increased para-amino-isobutyric acid, leucine, and proline levels in the urine. ^g Abnormal oligosaccharide in the urine. ^h Cases reported in Great Britain.

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Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

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.

Specialty Editor Board

Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Jeffrey J Miller, MD Associate Professor of Dermatology, Pennsylvania State University College of Medicine; Staff Dermatologist, Pennsylvania 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, Society for Investigative Dermatology, Association of Professors of Dermatology, North American Hair Research Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Winchester Syndrome

Practice Essentials

Etiology

Prognosis

Complications

Diagnostics

Treatment

Background

Pathophysiology

Epidemiology

Frequency

Race-, sex-, and age-related information

Winchester Syndrome

Practice Essentials

Etiology

Prognosis

Complications

Diagnostics

Treatment

Background

Pathophysiology

Epidemiology

Frequency

Race-, sex-, and age-related information

References

Tables

Contributor Information and Disclosures

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