Hereditary sclerosing poikiloderma of Weary: report of a new case

Salvat, G. Heras; Pont, Sylvia C.; Aliaga,

doi:10.1046/j.1365-2133.1999.02684.x

Cited by 22 publications

(15 citation statements)

References 3 publications

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“…Though cardiac involvement was reported in only two previously described patients (1, 3), several members of reported patient's family had cardiac valvular diseases or impending valvular diseases (1, 3, 4). Also, our patient's father died at 40 yr as a result of cardiovascular disease.…”

Section: Discussionmentioning

confidence: 83%

“…Of these, the most important features for diagnosis for HSP are widespread poikiloderma and sclerotic bands. Previously reported cases suggest that the diagnosis for HSP requires the presence of the above two features and other clinical features are not essential to diagnosis (3). Our patient had generalized poikiloderma, linear sclerotic bands in flexural areas, sclerosis of the palms and soles, and clubbing of the fingers as other reported cases, but tissue calcinosis was not found.…”

Section: Discussionmentioning

confidence: 99%

“…Other combined abnormalities included tissue calcinosis (1), micrognathia (2), maxillary bossing (2), mandibuloacral dysplasia (4), Raynaud's phenomenon (3) and growth retardation were also reported. Our case had micrognathia and growth retardation, but had no other above described diseases.…”

Section: Discussionmentioning

confidence: 99%

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Hereditary Sclerosing Poikiloderma

2012

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Hereditary sclerosing poikiloderma (HSP) is a very rare disease. The clinical features are principally widespread poikiloderma and linear hyperkeratotic and sclerotic bands. We report an 18-yr-old male who presented reticular hyperpigmented lesions on the trunk and extremities since 2-yr-old. Also, linear sclerosing bands appeared on both antecubital and popliteal fossae after yr. Histopathologic finding showed dense sclerotic collagen fibers with telangiectasia in the upper dermis and fragmentations of damaged elastic fibers in the elastic stain, consistent with HSP. We report the first Korean case of HSP.

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Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

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Hereditary Sclerosing Poikiloderma

2012

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“…In cases with hereditary sclerosing poikiloderma [95,96], besides the characteristic signs of poikiloderma, sclerotic lesions are present as linear symmetric bands in the axillary regions and other body areas [97]. Scleroderma-like skin changes may also be present on the hands [98]. Vascular changes and cardiac abnormalities (aortic stenosis) are also important elements of this disorder [98].…”

Section: Other Hereditary Scleroderma-like Dis-ordersmentioning

confidence: 99%

“…Scleroderma-like skin changes may also be present on the hands [98]. Vascular changes and cardiac abnormalities (aortic stenosis) are also important elements of this disorder [98]. The rare disease supposed to show an autosomal dominant inheritance with variable penetrance [95].…”

Section: Other Hereditary Scleroderma-like Dis-ordersmentioning

confidence: 99%

Clinical Features of Scleroderma-Like Disorders: A Challenge for the Rheumatologist

Czirják¹,

Varjú

2006

CRR

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Systemic sclerosis (SSc) is characterized by vascular abnormalities, fibrosis, inflammatory changes, and late stage atrophy/obliterative vasculopathy. Localized scleroderma forms show a longitudinal or circumscribed skin involvement. In scleroderma-like disorders the distribution/characteristics of skin involvement seem to be "atypical" as compared to classic SSc, and the acral skin involvement is usually missing. Exposure to certain chemicals or drugs may also suggest the presence of a scleroderma-like disease. Lack of Raynaud's phenomenon, scleroderma-specific antinuclear antibodies, scleroderma capillary pattern on nailfold capillaroscopy, and typical internal organ manifestations may also indicate the presence of a scleroderma-like disorder. For differential diagnosis skin biopsy is almost always required.Scleroderma-like disorders include diseases with mucin deposition (scleromyxedema, scleredema, etc.). Some disorders show papular-nodular skin changes with or without dermal deposition of materials (amyloid, mucin deposition; fibroblastic rheumatism, etc.). Diseases with monoclonal gammopathy (scleromyxedema, POEMS syndrome, myeloma with scleroderma-like skin changes) also belong to the large group of scleroderma-like diseases. Some disorders are characterized by eosinophilia (diffuse fasciitis with eosinophilia, eosinophilia-myalgia syndrome, toxic oil syndrome), metabolic/biochemical abnormalities (IDDM, nephrogenic fibrosing dermopathy), and endocrine abnormalities (POEMS syndrome, hypo/hyperthyroidism with mucin deposition, diabetes). Chronic graft-versus host disease (cGVHD) may also show scleroderma-like skin changes.Scleroderma-like disorders can be induced by drugs or chemicals (eosinophilia-myalgia syndrome, toxic oil syndrome, vinyl-chloride disease; cytostatic/appetite suppressant, etc), and also by physical injury (trauma, vibration stress, radiation injury). Inherited progeroid syndromes with early ageing (Werner's syndrome, etc.), and a large heterogeneous group of hereditary disorders with either skin thickening (porphyria, phenylketonuria) or skin atrophy/tightening (restrictive dermopathy, scleroatrophic and keratotic dermatosis of the limbs, etc.) should also be taken in consideration in the differential diagnosis of scleroderma-like disorders. These categories are not mutually exclusive, because the remarkably different scleroderma-like diseases show overlapping features.

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