Fucosidosis with angiokeratoma. Immunohistochemical &amp; electronmicroscopic study of a new case and literature review

Kanitakis, Jean; Allombert, Carole; Doebelin, Bénédicte; Deroo-Berger, Marie-Charlotte; Grande, Sophie; Blanc, Sébastien; Claudy, A

doi:10.1111/j.0303-6987.2005.00366.x

Cited by 49 publications

(31 citation statements)

References 30 publications

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“…A correlation between lysosomal storage disease and angiokeratoma has been described in several studies on human subjects (Kanitakis et al 2005;Molho-Pessach et al 2007). According to a previous study, angiokeratoma corporis diffusum, which is a generalised systemic form that is usually associated with a metabolic disorder, was present in 52% of fucosidosis patients (Kanitakis et al 2005).…”

Section: Discussionmentioning

confidence: 83%

“…According to a previous study, angiokeratoma corporis diffusum, which is a generalised systemic form that is usually associated with a metabolic disorder, was present in 52% of fucosidosis patients (Kanitakis et al 2005). Because lysosomal storage disease is hereditary and has no definitive clinical or histological features, taking a family history for identification of genetic factors is important.…”

Section: Discussionmentioning

confidence: 99%

“…The lysosome contains more than 60 kinds of acid hydrolases and a deficiency in these enzymes results in excessive storage of their substrates, leading to progressive cell damage and organ dysfunction (Nagayasu et al 2008). Thus, electron-dense lysosomal deposits or electron-lucent lysosomal vacuoles are observed depending on the accumulated substrates (Kanda et al 2002;Kanitakis et al 2005;Molho-Pessach et al 2007;Albano et al 2010).…”

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confidence: 99%

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Angiokeratoma with lysosomal dilatation in keratinocytes in a dog: a case report

Lim¹,

Kim²,

Lee³

et al. 2014

Vet. Med. - Czech

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Herein, we report the histopathology of angiokeratoma characterised by non-invasive, proliferative, ectatic vascular malformations accompanying lysosomal dilation in the canine skin. Two cutaneous angiokeratomas were diagnosed in a six-year-old spayed female Pekinese dog. Physical examination of the skin revealed two small erythematous papules on the axillary and abdominal regions. The masses were approximately 2-3 mm in diameter, well-circumscribed, purple to red in colour, and slightly elevated above the skin surface. The two small masses had similar histopathological features, characterised by exophytic proliferation of a mixture of multiple vascular channels resembling a cavernous haemangioma on the superficial dermis. The entire lesion was well circumscribed and the overlying epidermal hyperplasia formed a collarette. Ultrastructural analysis with transmission electron microscopy revealed electron-lucent lysosomal dilatation in the keratinocytes of the irregular hyperplastic epithelial trabeculae like rete pegs.

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Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Angiokeratoma with lysosomal dilatation in keratinocytes in a dog: a case report

Lim¹,

Kim²,

Lee³

et al. 2014

Vet. Med. - Czech

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“…Si les angiokératomes sont diffus, plusieurs maladies métaboliques peuvent être évoquées [9] : fucosidose, α-galactosidose, maladie de Kanzani, β-mannosidose, aspartylglucosaminurie, galactosialidose. Des angiokératomes ont également été occasionnellement rapportés dans le syndrome de Turner, la sclérose tubéreuse de • Les angiokératomes du scrotum et de la vulve décrits par Fordyce en 1896 [12] sont constatés fréquemment à partir de 40 ans (Figure 3).…”

Section: Diagnostic Différentielunclassified

L’angiokératome dans le diagnostic de la maladie de Fabry

Cuny

2005

Med Sci (Paris)

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Signes cliniques dermatologiques AngiokératomeIl s'agit d'une dilatation vasculaire (papule télan-giectasique) dont la surface est kératosique à la palpation, se vidant en grande partie lors de la vitropression. Les angiokératomes sont multiples, de petite taille, punctiformes, pseudopurpuriques et augmentent avec le temps pouvant constituer une éruption profuse, prédominant sur la racine des cuisses et sur les fesses (en caleçon) (Figure 1). Cependant, cette topographie, si elle est très évocatrice, n'est pas constante et d'autres atteintes sont également possibles : le tronc, les doigts, le scrotum, la muqueuse orale et les conjonctives. Ils apparaissent pendant l'enfance ou l'adolescence mais ne sont pas les premiers signes cliniques. Dans une étude portant sur 366 patients [6], ils sont constatés chez 78 % des garçons et 50 % des filles. L'âge moyen d'apparition est de 17,9 ans chez le garçon et 29,1 ans > Les différents aspects dermatologiques de la maladie de Fabry sont étudiés ainsi que les méca-nismes pathogéniques qui en sont la cause. Les traitements sont discutés. < Service de Dermatologie, Hôpital Fournier, CHU de Nancy, 36, quai de la Bataille, 54000 Nancy, France. jf.cuny@chu-nancy.fr Article disponible sur le site

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“…The clinical symptoms mainly consist of neurodegeneration with progressive mental and motor deterioration. Additional features include angiokeratoma corporis diffusum, dysostosis multiplex, visceromegaly, ocular abnormalities, hearing loss, seizures, coarse features, recurrent infections, spasticity, contractures, growth retardation, muscle wasting, and dystrophy (Willems et al 1991;Kanitakis et al 2005). Although a distinction between the severe type I and less severe type II forms has been described, the wide continuous clinical spectrum of the disease may account for the clinical heterogeneity (Willems et al 1991).…”

Section: Introductionmentioning

confidence: 99%

Mutation identification and characterization of a Taiwanese patient with fucosidosis

et al. 2007

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Fucosidosis is a rare lysosomal storage disease caused by a defect of the a-L-fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with fucosidosis. Upon expressing in COS-7 cells, 97.4% of a-Lfucosidase activity compared with that of the wild-type construct was observed in the cDNA containing Q281R polymorphism. Western blot analysis revealed a 58-kDa precursor and 56-kDa mature forms for cells transfected with wild-type and Q281R enzymes. Using the fluorogenic substrate, the Michaelis constants and maximal velocities of both enzymes were very similar. While no appreciable enzyme activity (0.0%) was observed with Y126X mutation, no apparent decrease in FUCA1 mRNA level was seen with Y126X mutation. The expressed truncated Y126X protein was unstable and largely degraded. The delineation of the molecular defect could serve to complement future prenatal diagnosis for this family when necessary.

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Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review

Cited by 49 publications

References 30 publications

Angiokeratoma with lysosomal dilatation in keratinocytes in a dog: a case report

Angiokeratoma with lysosomal dilatation in keratinocytes in a dog: a case report

L’angiokératome dans le diagnostic de la maladie de Fabry

Mutation identification and characterization of a Taiwanese patient with fucosidosis

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