Lipoid Proteinosis (Urbach-Wiethe Disease)

Kianersi

Case Reports in Medicine

et al. 2012

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.

“…Interestingly, almost all previously reported cases of UWS had consanguine parents, and the most observed kinship in this regard was “first-cousin” which accords with our case [16]. …”

Section: Discussion and Literature Reviewsupporting

confidence: 90%

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

Kianersi

Case Reports in Medicine

et al. 2012

Journal of Neuropsychiatry

“…Lipoid proteinosis may show protean clinical features and yet remain undiagnosed for many years 35 . Typically, LiP presents with infantile hoarseness 27 and in at least twothirds of cases voice changes are present at birth or early infancy. However hoarseness and other LiP symptoms may first present in later childhood 52 , puberty 53 , adulthood 37 , or not at all.…”

Section: Dermatological Signsmentioning

confidence: 99%

The Neuropsychiatry and Neuropsychology Of Lipoid Proteinosis

Thornton¹,

Nel²,

Thornton³

et al. 2008

Lipoid Proteinosis (LiP) is a rare hereditary disease, which often results in bilateral, symmetrical and circumscribed calcifications in the mesial temporal region (especially the amygdala). While several case studies have been published on individuals with this illness, there have been few systematic investigations of the neuropsychiatry and neuropsychology of a series of patients. Thirty-seven LiP patients were extensively assessed with standardized neuropsychiatric and neuropsychological measures. Of these, 27 patients from the Northern Cape in South Africa were matched (for age, gender, education, language, geographical area) with 53 controls. There was a high incidence of neuropsychiatric disorders in LiP (more than half of the subjects reported a history of depression or anxiety and 12% had a diagnosis of schizophrenia). Despite a wide variance, LiP subjects performed poorly on facial recognition for emotions and on most neuropsychological measures including intelligence, recall and executive functioning. These findings are consistent with involvement of the mesial temporal areas in mood, anxiety, and psychotic symptoms, and in the cognitive-affective processes.

Experimental Dermatology

“…Ocular manifestations of LP include papules along the lid margins that are pathognomonic, as well as retinal drusen, bilateral corectopia, dystrichiasis, and dry eye syndrome (7). Bilateral cataracts appearing at young age may be associated with systemic disease such as prematurity and intrauterine infections and are familial in 23 percent of cases (8).…”

Section: Discussionmentioning

confidence: 99%

A novel splice‐site mutation in ECM‐1 gene in a consanguineous family with lipoid proteinosis

Horev

Potikha

Ayalon

et al. 2005

Lipoid proteinosis (LP) (OMIM 247100) is a rare, autosomal recessive disorder. Recent studies have shown that LP is the result of reduced expression of the extracellular matrix protein gene (ECM-1), in which loss-of-function mutations have been described. In the present report, we describe a large consanguineous family with LP. We identified a homozygous splice-site mutation in intron 1 (IVS1 + 1G-->C) in three clinically affected patients. This is the first splice-site mutation reported in LP and is the most 5' of all ECM-1 mutations described thus far. It is predicted to result in the removal of the translation initiation site, thus ablating all three known ECM-1 isoforms (ECM-1a, ECM-1b, and ECM-1c). In addition, we found a novel splicing variant that is not associated with the disease (DQ010946) and results in the generation of a short, prematurely terminating transcript. This case further emphasizes the role of ECM-1 in LP and highlights the unresolved genotype-phenotype correlation in this disease.