Fucosidosis: Ultrastructural study of the eye in an adult

Hoshino, Motohiro; O’Brien, Terrence P.; McDonnell, Jan M.; Cruz, Zenaida C. de la; Green, W R

doi:10.1007/bf02169791

Cited by 11 publications

(3 citation statements)

References 19 publications

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“…Our observations have evidenced the vacuolization of keratinocytes and Langerhans cells, as shown by LIBERT (5) and HOSHINO et al (6) during ultrastructural studies of the eye in fucosidosis. CARPENTIER & KARPATI (7) also reported "fingerprint-like" inclusions in the muscle endothelium cells of lipofuscinosis patients.…”

Section: Discussionsupporting

confidence: 86%

Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria

Bonnaure‐Mallet¹,

Loiseau-Corvez

Goasguen³

et al. 1991

J Oral Pathology Medicine

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The case described is that of a 9-yr-old girl presenting with aspartylglycosaminuria. Diagnosis of this lysosomal storage disease was guided by histologic study of gingival specimen sampled in the course of dental care. Transmitted electron microscopy (TEM) revealed many vesicles and cellular inclusions, altered collagenic formations, associated with abnormal extracellular matrix. Gingival biopsy is easily performed, is noniatrogenic, leaves nor scar, and could be properly used to help diagnose metabolic diseases in children.

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Section: Discussionsupporting

confidence: 86%

Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria

Bonnaure‐Mallet¹,

Loiseau-Corvez

Goasguen³

et al. 1991

J Oral Pathology Medicine

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“…EM examination may help to exclude Anderson–Fabry's disease, because this disease is the only one among metabolic diseases with ACD to show electron‐dense, lamellar (zebra‐like) inclusions within endothelial and other cell types 13,20 . By EM, it was observed that endothelial cells of fucosidosis angiokeratomas contain electron‐lucent vacuoles, found also in several other cell types, not only in the skin but in other tissues as well, including liver, 21,22 peripheral nerves, 23 rectal mucosa, 24 eye, 25 and peripheral lymphocytes 26 . The differential diagnosis between these ACD‐associated metabolic diseases is established through biochemical examination, showing greatly reduced or absent activity of the deficient enzyme within leukocytes, skin fibroblasts, or other tissues such as the liver.…”

Section: Discussionmentioning

confidence: 99%

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

Kanitakis¹,

Allombert²,

Doebelin³

et al. 2005

J Cutan Pathol

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Fucosidosis is a rare lysosomal storage disease due to alpha-L-fucosidase deficiency. It presents clinically with neurological, skeletal, and cutaneous findings, including mainly angiokeratoma corporis diffusum. Electronmicroscopic examination reveals characteristic electron-lucent cytoplasmic vacuolization present in several cell types of the skin and other tissues. We present here a new patient suffering from fucosidosis with angiokeratoma, whose normal and diseased skin was studied by lightmicroscopy and electronmicroscopy. The salient clinicopathological features of this disease are briefly reviewed.

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“…The corneal epithelial cells, corneal endothelial cells, keratocytes, fibroblasts, retinal ganglion cells, inner segments of photoreceptors and glial cells of the optic nerve have all shown evidence of deposition of this abnormal material. 8 …”

Section: Discussionmentioning

confidence: 99%

Ocular findings in a patient with fucosidosis

Sanchez

Oatts

Duncan

et al. 2016

American Journal of Ophthalmology Case Reports

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PurposeTo describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storage disease.ObservationsA 14 year-old female presented with angiokeratomas corporis diffusum, coarse facial features, poor verbal skills, hearing impairment and mild developmental delay. A lysosomal storage enzyme screen confirmed absent activity of α-l-fucosidase consistent with a diagnosis of fucosidosis. Her eye exam was remarkable for telangiectatic vessels in the inferior conjunctiva and mild corneal stromal haze bilaterally. Spectral domain–optical coherence tomography scans of the macula and a full-field electroretinogram were normal.Conclusions and importanceWe describe the findings in a 14 year-old patient with fucosidosis and review the systemic and ocular manifestations of this rare lysosomal storage disease.

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Fucosidosis: Ultrastructural study of the eye in an adult

Cited by 11 publications

References 19 publications

Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria

Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria

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

Ocular findings in a patient with fucosidosis

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