Angiokeratoma corporis diffusum. Some clinical aspects.

Johnston, Alan; Weller, S. D. V.; Warland, Betsy

doi:10.1136/adc.43.227.73

Cited by 21 publications

(10 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Female carriers have no pubertal delay. Similar pubertal delay in males has been reported previously (Johnston et al, 1968).…”

Section: Discussionsupporting

confidence: 90%

“…Urbain et al (1969) described a patient of 33 years without a rash or family history. Johnston et al (1968) described adults and an adolescent without a rash, but with a family history, as did Fone and King (1964). Clarke et al (1971) presented two unrelated adults with changes of Fabry's disease on renal biopsy, excess ceramide triand dihexoside in the urine, and deficient leucocyte a-galactosidase activity.…”

Section: Discussionmentioning

confidence: 96%

“…It is thought that they also had the palmar erythemata noted by Johnston, Weller, and Warland (1968). The retinal and conjunctival vessel abnormalities, corneal haze, and limb pains are all characteristic of the condition.…”

Section: Discussionmentioning

confidence: 99%

“…Wise et al (1962) considered that, in the majority and perhaps all cases, the rash appeared before the age of 10 years, quoting two cases in which the rash appeared in infancy, and that systemic symptoms without a rash were rare. To ascertain the correlation between the age of onset of symptoms and the presence or absence of a rash at a stated age, 26 patients in whom these two ages were mentioned were collected from the literature (Curry and Fleisher, 1961;Wise et al, 1962;Fone and King, 1964;Dempsey et al, 1965;Rae, Lee, and Hopper, 1967;Johnston et al, 1968;Loeb et al, 1968). This method is subject to obvious limitations.…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Gut Lesions in Fabry's Disease Without a Rash

Flynn¹,

Lake²,

Boothby³

et al. 1972

Archives of Disease in Childhood

View full text Add to dashboard Cite

“…Female carriers have no pubertal delay. Similar pubertal delay in males has been reported previously (Johnston et al, 1968).…”

Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Gut Lesions in Fabry's Disease Without a Rash

Flynn¹,

Lake²,

Boothby³

et al. 1972

Archives of Disease in Childhood

View full text Add to dashboard Cite

“…The disease is an inborn error of glycolipid metabolism, transmitted as a sex-linked recessive trait,1 5 and is manifested by the sequelae of deposi¬ tion of glycolipids, eg, ceramide trihexoside (CTH) and ceramide dihexoside (CDH), in blood vessels, nerves, ganglion cells, the cornea, kidneys, heart, and other tissues. Brady et al11 reported that the ac¬ cumulation of glycolipid is due to a deficiency of ceramide trihexosidase.…”

mentioning

confidence: 99%

Biochemical and Genetic Studies in Two Families With Fabry Disease

Goto¹,

Tabira²,

Nawa³

et al. 1974

Archives of Neurology

View full text Add to dashboard Cite

Genetic, biochemical, and enzymatic studies were performed in two families with Fabry disease. The urinary glycolipids and the leukocyte \g=a\-galactosidase, \g=b\-galactosidase,N-acetyl-\g=b\-glucosaminidase, and N-acetyl-\g=b\-galactosaminidase activities were determined in members of these families. Seven male members of both families had the typical symptoms of classic Fabry disease with abnormally low levels of \g=a\-galactosidase and increased urinary excretion of glycolipids.Female carriers who had moderately low levels of \g=a\-galactosidasewith excessive urinary glycolipid excretion showed typical clinical symptoms except for one subject. Our results suggest that there is a correlation between the urinary glycolipid excretion, the level of leukocyte \g=a\-galactosidase activity, and the clinical picture in hemizygous male patients with Fabry disease and heterozygous female carriers.(Arch Neurol 31: [45][46][47][48][49][50] 1974) Fabry disease is characterized clini¬ cally by episodes of severe fleet¬ ing pains in the extremities, crises of fever, hypohidrosis, tortuosity and di¬ lation of the conjunctival and retinal vessels, clouding of the cornea, and proteinuria.The disease is an inborn error of glycolipid metabolism, transmitted as a sex-linked recessive trait,1 5 and is manifested by the sequelae of deposi¬ tion of glycolipids, eg, ceramide trihexoside (CTH) and ceramide dihexoside (CDH), in blood vessels, nerves, ganglion cells, the cornea, kidneys, heart, and other tissues.11-10 Brady et al11 reported that the ac¬ cumulation of glycolipid is due to a deficiency of ceramide trihexosidase. Recently, using artificial substrates, Kint12 has shown that a-galactosidase is deficient in the leukocytes of pa¬ tients with Fabry disease.However, few systematic clinicobiochemical studies including the ge¬ netic aspects in pedigrees of Fabry disease have been reported. The pur¬ pose of this communication is to pre¬ sent information on the biochemical and enzymatic changes, as well as the clinical manifestations, of patients and carriers in two families with Fabry disease. Materials and MethodsThe urinary glycolipids and leukocyte agalactosidase, /3-galactosidase, N-acetyl-ß-glucosaminidase, and N-acetyl-/J-galactosaminidase activities were determined in 10 members of family A and 17 members of family B. Clinical and ophthalmologic examinations were also performed on all members. The leukocyte a-galactosidase, /8-galactosidase, N-acetyl-ß-glucosaminidase, and N-acetyl-ß-galactosaminidase activities were also measured in 23 healthy adult controls.Urinary Glycolipid Detection.-When available, a 24-hour urine collection was used for the test. Urine was filtered on sol¬ vent-washed filter papers that were air dried for a few hours. The filter papers were extracted in 40 ml of chloroformmethanol (2:1 v/v) for one hour. The ex¬ tract was washed with 8 ml of distilled wa¬ ter. The upper phase was discarded, and the lower phase was dried at 55 C. An ali¬ quot of the total lipid extract was chromatographed on plates ...

show abstract

Neuropathy and Fabry's disease

2004

View full text Add to dashboard Cite

Fabry's disease is a multisystem disorder that is commonly associated with a painful, debilitating neuropathy. The common coexistence of arthralgias and an elevated erythrocyte sedimentation rate may lead to the misdiagnosis of a rheumatic condition. We report a 38-year-old man who was evaluated for progressive neuropathy and limb pain in the setting of longstanding arthralgias, presumed juvenile rheumatoid arthritis, and past renal transplantation. Histopathologic assessment of nerve and muscle biopsy specimens led to the diagnosis of Fabry's disease, thus allowing the patient to receive enzyme replacement therapy that may slow progression and preserve the transplanted kidney.

show abstract

Angiokeratoma corporis diffusum. Some clinical aspects.

Cited by 21 publications

References 13 publications

Gut Lesions in Fabry's Disease Without a Rash

Gut Lesions in Fabry's Disease Without a Rash

Biochemical and Genetic Studies in Two Families With Fabry Disease

Neuropathy and Fabry's disease

Contact Info

Product

Resources

About