Familial Primary Localized Cutaneous Amyloidosis in Brazil

Sakuma, Thais Harumi; Hans-Filho, Günter; Arita, Ken; ccedil, Ma; Odashiro, anori; Odashiro, Danilo N.; Hans, Nelise Ritter; Hans-Neto, Günter; McGrath, John A.

doi:10.1001/archdermatol.2009.107

Cited by 12 publications

(6 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Genome‐wide linkage analyses have revealed that the disease susceptibility loci of a significant portion of collected pedigrees are mapped to chromosome 5p13.1–q11.2 . Subsequent investigation has identified missense mutations in the oncostatin M receptor ( OSMR ) or interleukin‐31 receptor A ( IL31RA ) genes . Dillon et al .…”

Section: Clinical and Genotyping Data In Sporadic Patients With Plca mentioning

confidence: 99%

Detection of common mutations in sporadic primary localized cutaneous amyloidosis by DNA mass spectrometry

Chang

Lin

Lee³

et al. 2014

Br J Dermatol

View full text Add to dashboard Cite

Section: Clinical and Genotyping Data In Sporadic Patients With Plca mentioning

confidence: 99%

Detection of common mutations in sporadic primary localized cutaneous amyloidosis by DNA mass spectrometry

Chang

Lin

Lee³

et al. 2014

Br J Dermatol

View full text Add to dashboard Cite

“…[ 8 17 ] Familial PLCA shows autosomal dominant inheritance, but there is clinical and genetic heterogeneity and variable clinical penetrance. [ 4 ]…”

Section: Discussionmentioning

confidence: 99%

“…[ 2 3 ] Most cases are sporadic, but approximately 10% of cases may be familial. [ 4 ] It is important to screen for systemic amyloidosis with the relevant investigations as it can present similarly with blistering eruptions, in which the prognosis would be grave. [ 5 ]…”

Section: Introductionmentioning

confidence: 99%

Bullous variant of familial biphasic lichen amyloidosis: A unique combination of three rare presentations

et al. 2015

View full text Add to dashboard Cite

A 55-year-old man presented with multiple, itchy papules and macules on the trunk and extremities. Histopathologic examination of biopsy specimens taken from three different lesions showed a subepidermal blister with amyloid deposits in the dermal papillae. No systemic disease or involvement of other organs was detected. The clinical and histological findings were compatible with a bullous variant of lichen amyloidosis (LA). Primary cutaneous localized amyloidosis usually presents with papular, macular or nodular lesions. Bullous lesions associated with LA are very rare. Furthermore, patient had seven other members in the family with similar lesions, which is also a rare occurrence. We report a case with a rare combination of biphasic, bullous variant of familial LA.

show abstract

“…3 Familial PLCA shows autosomal dominant inheritance, but there is clinical and genetic heterogeneity and variable clinical penetrance. 4…”

Section: Image Of the Monthmentioning

confidence: 99%

Images of the month 4: Cutaneous amyloidosis: a clinical challenge

Moatamedi

Derakhshan

2019

Clinical Medicine

View full text Add to dashboard Cite

Case presentation A 63-year-old woman presented with a 6-year history of discoloured areas on right palm, right middle and ring fingers. She was asymptomatic except for one episode of bleeding from the affected area following minor trauma. She was right handed. Past medical history included premature labour followed by total abdominal hysterectomy, irritable bowel syndrome, essential hypertension, duodenal ulcer, cerebrovascular accident and depression. She was an ex-smoker. Her current medication included aspirin. There was no drug allergy. Examination revealed dull red, flat, non-pulsatile areas on palm (Figs 1 and 2). There was no hyperkeratosis or ulceration. Small venous lake on right upper lip was noted.

show abstract

Familial Primary Localized Cutaneous Amyloidosis in Brazil

Cited by 12 publications

References 21 publications

Detection of common mutations in sporadic primary localized cutaneous amyloidosis by DNA mass spectrometry

Detection of common mutations in sporadic primary localized cutaneous amyloidosis by DNA mass spectrometry

Bullous variant of familial biphasic lichen amyloidosis: A unique combination of three rare presentations

Images of the month 4: Cutaneous amyloidosis: a clinical challenge

Contact Info

Product

Resources

About