Manifestations oculaires du syndrome d’Urbach-Wiethe

François, J.; Bacskulin, J; Follmann, P

doi:10.1159/000305345

Cited by 17 publications

(18 citation statements)

References 9 publications

(11 reference statements)

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“…Radiographic and electroencephalographic results were unremarkable. The pedigree indicates that the pattern of inheritance in this family is most likely autosomal recessive, and this is in accordance with the findings of other investigators [4, 5, 16, 17]. Although phenotypically normal, the parents were consanguineous, and they had two affected offspring.…”

Section: Discussionsupporting

confidence: 91%

“…We believe that the hyaline degeneration, the deposition of lipid material and the release of carbohydrates could be all consequences of a primary enzymic defect; on the other hand, only in this way is it possible to explain the ubiquitous presence of symptoms (skin, mucous membranes, viscera, central nervous system and ocular tissues) [1, 2, 3, 4], 24, 25] without serum or urine markers of the disease.…”

Section: Discussionmentioning

confidence: 99%

“…It starts in early childhood, and common findings are the deposition of plaques on the mucous membranes, and eruptions on the face and extensor surfaces of the skin [3]; ocular manifestations include papules along the lid margins [4]as well as retinal drusen [5], and, more recently, bilateral corectopia [6]and dry eye syndrome [7]have been observed (table 1). The distribution of the lesions and their chronic nature are considered pathognomonic.…”

Section: Introductionmentioning

confidence: 99%

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Lipoid Proteinosis (Urbach-Wiethe Disease)

et al. 1999

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The aim of this study has been to assess the clinical presentation and biochemical profile of lipoid proteinosis within a defined pedigree. Glycoprotein analysis was compared to normal values in an attempt to define a biochemical phenotype. Six affected family members were identified with variable degrees of disease expression. The most likely mode of inheritance is autosomal recessive due to consanguinity. Routine laboratory investigations were normal in all family members tested. The total content of mucopolysaccharides, sialic acid and hexosamine in biopsed tissue was significantly lower than normal. Our findings demonstrate that a defect in glycoprotein synthesis, possibly enzymatic, may be the cause of lipid proteinosis and its protean clinical manifestations.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Lipoid Proteinosis (Urbach-Wiethe Disease)

et al. 1999

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“…Ocular signs/symptoms were described as a part of UWS, since early descriptions [17, 18]. As far as we could elicit from the literature, these manifestations may fall into two major groups: (1) common findings described in most patients and (2) rare findings reported in a single or few cases.…”

Section: Discussion and Literature Reviewmentioning

confidence: 96%

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis

Abtahi

Kianersi

Abtahi

et al. 2012

Case Reports in Medicine

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Patients suffering from Urbach-Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae, may have an ophthalmologist involved in the diagnosis and management of their disease. Along with moniliform blepharosis as a pathognomonic feature of the disease, an ophthalmologist may encounter other manifestations of UWS in any part of the eye such as cornea; conjunctiva; sclera; trabecular meshwork; iris/pupil; lens and zonular fibers; retina; nasolacrimal duct. This paper provides a review on the pathogenesis and the diverse ocular manifestations seen in UWS patients. Uncommon complications are discussed in this paper (glaucoma; dry eye and epiphora; complications of lens, retina, cornea; iris/pupil and conjunctiva). Moreover, a 27-year-old male UWS patient is described with bilateral diffuse anterior stromal iris atrophy, diffuse keratic precipitates; posterior subcapsular cataract; 1 + vitreous cell in anterior vitreous examination. This case was thought to be the first instance of bilateral uveitis associated with UWS. Overall, ophthalmologists may encounter diverse ocular complications accompanying this syndrome. They should be familiar with well-established ophthalmologic manifestations leading them to cooperate with other specialists in diagnosis and management of the disease.

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“…Although autopsy studies have shown lipoid proteinosis to be a generalized disorder with microscopic deposits of hyaline material in practically every organ, symptoms related to other viscera have not been described. 20 Some patients may present with extracutaneous and extramucosal features mainly neurological, like epilepsy, memory loss and schizophrenic behavior, sometimes in association with intracranial calcification in the temporal lobes or hippocampus, easily detected by brain computed tomography (CT). 21 Histologically, this entity is characterized by disruption/ duplication of the basement membrane with deposition of hyaline material at the level of the basement membrane resulting in its thickening at the dermoepidermal junction.…”

Section: 16mentioning

confidence: 99%

Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

Koganti¹

2013

International Journal of Phonosurgery &Amp; Laryngology

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Urbach-Wiethe disease is a rare, autosomal recessive disorder, characterized by infiltration of periodic acid-Schiff positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. Laryngeal involvement is typical and causes hoarseness of voice. In this paper, we present a case of a middle-aged female with clinical features suggestive of Urbach-Wiethe disease. This entity is of interest to the otolaryngologist as it is a rare cause of hoarseness of voice.

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Manifestations oculaires du syndrome d’Urbach-Wiethe

Cited by 17 publications

References 9 publications

Lipoid Proteinosis (Urbach-Wiethe Disease)

Lipoid Proteinosis (Urbach-Wiethe Disease)

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis

Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

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