The skin in the Winchester syndrome

Cohen, A. H.

doi:10.1001/archderm.111.2.230

Cited by 11 publications

(8 citation statements)

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“…Very similar aberrations have been described earlier [5, 8, 9], along with dilated cisternae of the rough endoplasmic reticulum and hyperactive Golgi stacks [3, 5, 8, 9, 11, 12, 15, 16, 19, 22]. However, some of these intracellular abnormalities do not seem specific for the hyalinosis syndromes but are also observed in other syndromes characterized by osteolysis [24, 25, 26]. Recently, unusual intracellular multivesicular bodies have been observed in a skin biopsy from an ISH patient [5].…”

Section: Discussionsupporting

confidence: 72%

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini¹,

Stojanov

Willemsen³

et al. 1999

Dermatology

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Background: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF). ISH and JHF are sometimes difficult to separate since they show significant overlap. Observations: We report on 3 children from two unrelated families suffering from JHF. The first child is severely handicapped by joint contracture, massive hyperplasia of the gingivae, diffuse skin papules and subcutaneous nodules occupying the scalp, face, perianal area, palms, soles and chest. At the same age, the second child only shows pearly skin papules on the face, groin and perianal area and gingival hyperplasia without joint stiffness or any other subjective complaint. The third patient, a brother of the second child, developed mild skin abnormalities by the end of the first year. The occurrence in siblings and consanguinity in the second family suggests autosomal recessive inheritance. Histological skin examination in the 3 cases showed hyaline deposition in the dermis and abnormal ultrastructure of fibroblasts. Biochemical findings showed mucopolysaccharide abnormalities in both families. Conclusion: Our patients do not only illustrate the different expressions of JHF but also show some overlap with ISH, suggesting a common cause for both disorders. Genetic studies will finally answer this question.

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Section: Discussionsupporting

confidence: 72%

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini¹,

Stojanov

Willemsen³

et al. 1999

Dermatology

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“…Skin biopsies reveal fibroblastic hyperplasia, abnormal collagen bundles in the deep dermis, excessive collagen turnover and chronic perivascular infiltrate [1,4]. Basic laboratory tests are usually within normal limits.…”

Section: Discussionmentioning

confidence: 99%

Winchester syndrome

Matthiesen

Pedersen

Hélin

et al. 2001

International Orthopaedics (SICOT)

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Winchester syndrome was first described in 1969 and since then nine patients have been reported in the literature. The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes. The etiology is unknown. Parental consanguinity supports autosomal inheritance. The diagnosis is based on clinical and radiological manifestations. We describe a case in a 7-year-old Pakistani boy.Résumé Le syndrome Winchester a été décrit pour la première fois en 1969 et seulement 9 cas ont été rapporté dans la littérature. Le syndrome est caractérisé par une petite taille, un visage grossier, des opacités cornéennes, une ostéolyse généralisée et des arthropathies douloureuses progressives avec raideur et contractures des phalanges distales en association avec des troubles cutanés. L'étiologie du syndrome est inconnue. La consanguinité parentale est un facteur favorisant. Le diagnostic est basé sur les manifestations cliniques et radiologiques. Nous décrivons un cas chez un garçon pakistanais de 7 ans.

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“…Eisenstein et al [1998] recently reported an additional case of Torg syndrome where the nodules, contrary to our findings, were not major presenting manifestations, but rather occurred years later. Cases with multicentric osteolysis may have been reported as cases of Winchester syndrome or Winchester-like syndrome [Winchester et al, 1969;Hollister et al, 1974;Cohen et al, 1975;Dunger et al, 1987]. The overlap between different osteolysis syndromes may be due to the similarities between clinical characteristics and the disease stage at the time of diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…This might partly explain the response to methotrexate and D-penicillamine. The exact cause of osteolysis is not known, but Cohen et al [1975] suggested abnormal fibroblast function. This mechanism may play a role in the nodular regression and improved joint ROM, and should be studied.…”

Section: Discussionmentioning

confidence: 99%

New form of idiopathic osteolysis: Nodulosis, arthropathy and osteolysis (NAO) syndrome

et al. 2000

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We describe 10 patients (6 females and 4 males) from 6 unrelated families with an autosomal recessive disease characterized by simultaneous presentation of nodulosis, arthropathy and osteolysis. They were followed up regularly at King Faisal Specialist Hospital and Research Center in Saudi Arabia for clinical evaluation, serial blood work-up, and evaluating radiological changes. Nodulosis and arthropathy were the clinical criteria for inclusion in this study, and the ten patients fulfilled these criteria. All patients had nodulosis and distal arthropathy. Eight patients (80%) presented with deformed hands and four (40%) with painful hands. All patients had parents who were first cousins and three families had more than one affected child, the finding suggesting autosomal recessive inheritance. Osteopenia and undertubulation of bones distally more than proximally, and upper limbs affected more often than lower limbs, were found in all patients. Osteolysis was seen in carpal and tarsal bones. Other common findings were sclerotic cranial sutures, brachycephaly, and broad medial clavicles. This novel phenotype should be considered in the differential diagnosis of chronic arthritis. Familial arthropathies are more often seen in communities where interfamilial marriage is common. Such a collection of patients is ideal for homozygosity mapping of the disease locus.

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The skin in the Winchester syndrome

Cited by 11 publications

References 0 publications

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Winchester syndrome

New form of idiopathic osteolysis: Nodulosis, arthropathy and osteolysis (NAO) syndrome

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