Winchester Syndrome Clinical Presentation

Updated: Jul 11, 2018
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

This rare genetic syndrome is one of the inherited osteolysis disorders characterized by destruction and resorption of affected bones with consequent skeletal deformities and functional impairment. [20] Dissolution of carpal and tarsal bones with generalized osteoporosis, progressive joint contractures, short stature, peripheral corneal opacities, and coarse facial features are often seen, although the clinical features vary. Cutaneous features may include diffusely thickened and leathery skin; hypertrichosis; patches of hyperpigmented, hypertrichotic leathery skin in an annular or linear distribution; subcutaneous nodules; gingival hypertrophy; and widespread progressive multilayered symmetrical restrictive banding of the skin.

Perinatal period

The gestation and delivery of children with later features of Winchester syndrome are normal. In the first case, as described by Winchester et al, closure of the frontal fontanel was delayed until the patient was aged 3 years; in the second case, eruption of the milk teeth was delayed until the patient was aged 12 months. [2]

Pathologic changes

The onset of pathologic changes occurred during the patient's first 2 months of life, as Winchester et al, [2] Hollister et al, [4, 5] and Nabai et al [6] described.

The first pathologic changes usually occurred during the patient's first year of life. [2, 5, 7] In the first stage of the disease, inflammatory conditions appeared with painful joints and limited mobility, which suggests rheumatoid arthritis. These inflammatory changes usually involved the small joints, such as the interphalangeal, metacarpophalangeal, and carpal joints. The changes occurred bilaterally and symmetrically. [2, 4, 5, 6, 7, 11] At the same time, changes may develop in the large joints, such as the knee and vertebral joints. [2]

In the second case, Winchester described findings in a 3.5-year-old girl who had changes in the joints that caused stiffness of the vertebral column and extremities. This stiffness was present before the patient was aged 20 months.

The progressive course of the disease may last for many years and lead to permanent flexion contractures in the small joints of the hands and feet, as well as in the knee, hip, elbow, and shoulder joints. Similar changes may be observed in the vertebral column. Inflammatory changes in the joints may result in a failure to thrive.

Peripheral corneal opacities occurred when patients were aged 2-5 years, or the opacities were found later. [2] In later years, the children had poor eyesight. In 5 reported cases in children aged 3 months, 13 months, 4 years, 12 years, and 16 years, cataracts were not found. [6, 7, 8, 10]

Craniofacial deformities

Deformities and coarsening of the facial features is found at different stages of the disease. In patients described by Winchester et al, [2] craniofacial deformities were visible when the patient was aged 20 months in the first case and at 8 years in the second case. In the third case described by Hollister et al, [4, 5] intense coarsening of the facial features was observed when the patient was aged 22 years.

Other abnormalities

Abnormalities also occur on the limbs and trunk. These abnormalities present different morphologic pictures. These abnormalities were not found in the 2 patients described by Winchester et al. [2] In other cases, thickening and hyperpigmentation of the skin occurred in the initial period of the disease or later. [6]

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Physical Examination

In diagnosing Winchester syndrome, the following examination results and characteristic symptoms of the pathologic changes should be taken into account:

  • Case history with familial occurrence in siblings and cousins with a recessive autosomal inheritance pattern

  • Articular changes that occur when the patient is aged about 1 year, combined with complaints similar to those of rheumatoid arthritis

  • In older patients, permanent damages and deformities of the joints and short stature

  • Characteristic radiologic changes of the skeleton with features of multifocal osteoporosis, including a real lack of the carpal and tarsal bones

  • Peripheral corneal opacities

  • Coarsening of facial features

  • Gum hypertrophy

  • Focal or diffuse thickenings, with leathery skin, hyperpigmentation, and hypertrichosis

  • Characteristic histopathologic picture of skin lesions

In 1989, Winter [9] proposed diagnostic criteria for Winchester syndrome. These include the described skeletal radiologic characteristics (see Imaging Studies) combined with at least 2 of the following features: short stature and progressive articular contractures, corneal opacities, thickened hyperpigmentations or hirsutism of the skin, hypertrophy of the gums, and coarsened facial features.

Clinical changes in Winchester syndrome are multisystemic. They can be found in many tissues and organs.

Bony-articular system

Pathologic changes occur in small joints and large joints, as well as in the vertebral column. Involvement of these joints and the vertebral column is the basic feature of this pathologic syndrome. Deformities may occur as a consequence of changes in the bones that form the joints and edema of the periarticular tissues. These changes can be found in the joints of the hands and the digits of the feet, as well as in the wrists and metatarsi. Similar changes can occur in the knee, elbow, shoulder, and hip joints, and they can also involve the backbone. Note the image below.

(A) Case 1. Girl aged 2.5 years. Destruction of th (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.

Spontaneous pain occurs in these joints. This pain is aggravated by movements and palpation at examination. Flexion contractures occur in these joints.

The hands are deformed as a consequence of osteoporosis and osteolysis of the wrist bones, metacarpals, and phalanxes of the hands. Shortening of the wrist metacarpals in the flexion position may be visible, with claw positioning of the fingers. In patients with chronic disease, shortening of the fingers with a deformation may occur as a consequence of total resorption of the phalangeal bones of the fingers.

In the foot region, osteoporosis of the metatarsals and the phalanges can be observed with osteolysis of the tarsal bones. Deformations of the feet with shortening of the tarsus and metatarsus, [2, 5, 6, 12] sometimes with features of equine foot, [11] are observed.

Short stature (below the third percentile) is a characteristic feature of patients with Winchester syndrome. Short stature is presumably a consequence of osteolytic and degenerative changes of the vertebral bodies of the backbone and the long bones of the limbs. The long bones may show osteolytic destruction with rarefaction and atrophy of the spongy and cortical bone tissue, sometimes with thinning of the cortical part to 1 mm. [10] Note the image below.

Case 1. Girl aged 12 years. The knees are ankylose 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.

The damage also involves the metaphyses and epiphyses of these bones. The metaphyses are flattened, and the epiphyses are widened. Erosions occur on the articular surfaces. In some cases, stiffening of the backbone and/or large joints occurs as a consequence of ankylosis. [2, 11]

Skin

Changes in the facial skin and the skin of the trunk and limbs are often characteristic of this syndrome. Facial features may be coarsened and deformed. The following characteristics may be found: protruding forehead, big fleshy nose with lowering of its dorsum, and thick lips.

The skin may be thickened and brownish, and sometimes, it may have a leathery consistency. [6, 7, 12]

On the trunk and extremities, the skin may be thickened with associated hyperpigmentation and, sometimes, associated hirsutism. Changes in the skin may be focal, oval shape, and 8-12 cm in diameter. The changes can be localized on the back in the scapular region, and smaller ones are symmetrically scattered in the medial and lower parts of the back, as well as on the lateral surfaces of the chest and arms. [4, 5]

In some patients, changes may be diffuse and occupy a larger surface area on the skin.

In the case of the 3-month-old infant described by Nabai et al, a diffuse symmetrical skin thickening occurred on the abdomen and both limbs. [6] The skin over the metacarpal joints of the phalanxes and phalanxes was thickened with brown hyperpigmentation. Widespread progressive multilayered symmetrical restrictive cutaneous banding has been noted in one patient. [4]

Eyes and oral cavity

Corneal opacities, which are also characteristic of this syndrome, are usually localized on the corneal peripheries. Corneal opacities may involve the Descemet membrane. Involvement of the Descemet membrane was found in 1 patient. [5] In a 40-year-old woman, the corneal opacities were accompanied by glaucoma. [11] Corneal damage depends on the duration of the disease and worsens as the patient ages.

Hypertrophy of the gums is found in most patients.

Internal organs

In the cases described to date, hepatosplenomegaly has not been shown. In the single cases of children, heart murmurs over the heart or ECG changes were present. [2, 5]

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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. [5, 12] Multifocal bony-articular changes can lead to permanent disability.

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

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