Metabolic and Nutritional Disorders

Sarkany, Robert; Breathnach, S.M.; Morris, A. A. M.; Weismann, K; Flynn, P.

doi:10.1002/9781444317633.ch59

Cited by 45 publications

(16 citation statements)

References 960 publications

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“…Corneal arcus which represent deposition of cholesterol esters in peripheral cornea may co exist in younger patients with familial hypercholestrolaemia. 1 In our case, characteristic firm nodules were found over extensors of elbows, knees and dorsa of fingers with no corneal arcus. Differential diagnosis includes cysts, neurofibromas and lipomas.…”

Section: Discussionsupporting

confidence: 44%

“…Tuberous xanthomas can also occur in two other disorders of sterol metabolism, cerebrotendinous xanthomatosis and sitosterolaemia, both of which are extremely rare. 1 In our patient, the lipid profile was suggestive of Type IIa hyperlipidaemia, with markedly elevated total and LDL cholesterol levels and normal triglyceride levels. Homozygous familial hypercholesterolaemia was diagnosed on the basis of the typical clinical features of tuberous xanthomas over extensors of elbows, knees and dorsa of fingers with early onset at six years of age.…”

Section: Discussionmentioning

confidence: 48%

“…1 Two variants have been described: heterozygous with a prevalence of one per 500 and homozygous occurring with a prevalence of one per one million in the general population. The primary defect lies with genetic deficiency of the LDL receptors, which remove LDL cholesterol from the circulation.…”

Section: Discussionmentioning

confidence: 99%

“…1 They do not represent a disease per se, but are cutaneous markers for lipoprotein disorders or may even arise without an underlying metabolic defect. 2 We report a case of multiple tuberous xanthomas with a lipid profile consistent with familial hypercholesterolaemia Type IIa.…”

Section: Introductionmentioning

confidence: 99%

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A case of familial hypercholesterolaemia Type IIa presenting with tuberous xanthomas

Pathania¹,

Yadav²

2015

Medical Journal Armed Forces India

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Section: Discussionsupporting

confidence: 44%

Section: Discussionmentioning

confidence: 48%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A case of familial hypercholesterolaemia Type IIa presenting with tuberous xanthomas

Pathania¹,

Yadav²

2015

Medical Journal Armed Forces India

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“…Amyloidosis can be broadly classified into systemic and localised (organ-specific). 1,2 Cutaneous amyloidosis is a type of organ-specific amyloidosis and is further classified into primary localised cutaneous amyloidosis (PLCA) and secondary cutaneous amyloidosis. 1,3 The major PLCA are papular (lichen), macular and nodular amyloidosis.…”

Section: Introductionmentioning

confidence: 99%

A Clinical and Histopathological Study of Cutaneous Amyloidosis

E¹,

S²,

Nandakumar³

2017

jemds

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BACKGROUNDCutaneous amyloidosis refers to deposition of amyloid in the skin and can be primary or secondary. Systemic amyloidosis can also have skin involvement with amyloid deposits. Aims-1) To study the clinical presentation and the histopathological features of different types of cutaneous amyloidosis; 2) To study the association of cutaneous amyloidosis with other diseases; 3) To analyse the possible role of friction in inducing the condition. MATERIALS AND METHODSAll such patients during a period of one year were subjected to a detailed history taking, clinical examination, blood and urine investigations and histopathological evaluation including special stain for amyloid. Only biopsy-proven, Congo red positive cases were included in the study. Statistical Analysis: Method used was descriptive statistics. Design and Setting-The study is a case series of patients with clinical and histopathological features of cutaneous amyloidosis attending the outpatient wing of Department of Dermatology and Venereology, in a tertiary care teaching hospital. RESULTSThe clinical and histopathological features were studied and associations with other diseases were noted -26.3% had pre-existing pruritic skin diseases, 10.5% were diabetic and 7.9% were hypothyroid. History of usage of bath scrub was obtained from 76% patients and may be considered a major factor in the development of the condition. Limitations of the Study-Level of significance was not calculated to confirm associations assessed in this study. CONCLUSIONHistopathology is helpful to differentiate between macular and lichen amyloidosis. Cutaneous amyloidosis may often be associated with systemic disorders and hence must prompt one to investigate for them. Avoiding friction to the skin like use of bath-scrubs may help in preventing development of primary cutaneous amyloidosis.

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The therapeutic role of lasers in primary localized cutaneous amyloidosis: a systematic review

et al. 2021

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With the investigation of the efficacy of laser therapy in primary localized amyloidosis(PLCA) only recently starting to materialize, we aimed to review the currently available studies of laser therapy in the management of the disease. We searched PubMed, Scopus, Embase, Web of Science, Cochrane, and ProQuest online databases with a specified search strategy, assessed the quality of each study, and then extracted the eligible data. Five RCTs(randomized controlled trials), one non-randomized controlled trial, three case series, and nine case reports(18 in total) were included. Overall, carbon dioxide (CO2), neodymium-doped:yttrium aluminum garnet (Nd:YAG), pulsed dye (PDL), Er (Erbium):YAG, and yttrium/ erbium fiber were the studied lasers. One hundred fifty-five cases in total underwent laser therapy, with CO2 being the most frequent laser. Almost all studies demonstrated significantly desirable outcomes, while only mild and transient side effects were noted. Even though the studies' results were significant, we noticed that implementing a consistent methodology and a standardized objective assessment method was missing. Therefore, we recommend that future studies be conducted with less heterogeneous data for a more definite conclusion.

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Metabolic and Nutritional Disorders

Cited by 45 publications

References 960 publications

A case of familial hypercholesterolaemia Type IIa presenting with tuberous xanthomas

A case of familial hypercholesterolaemia Type IIa presenting with tuberous xanthomas

A Clinical and Histopathological Study of Cutaneous Amyloidosis

The therapeutic role of lasers in primary localized cutaneous amyloidosis: a systematic review

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