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A Rare Case of Pilomatrixoma in a Seventy-Six Year Old Lady

A Rare Case of Pilomatrixoma in a Seventy-Six Year Old Lady

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Teaser: 

P.K. Shenoy, MD, DLO, FRCS, FACS1, W. Wang, MD2
1ENT Service Chief, Campbellton Regional Hospital, New Brunswick, Campbellton, Canada.
2Pathology Service Chief, Campbellton Regional Hospital, New Brunswick, Campbellton, Canada.

Abstract
Objectives: We report a rare case of Pilomatrixoma with an unusual presentation in an elderly individual.
Method: Case reports and review of the literature of Pilomatrixoma and its clinical presentation, familial ocuurence and genetic mutation are presented.
Result: Pilomatrixoma is a rare, slow growing benign skin tumour derived from the hair matrix cell that typically occurs in the head and neck.8,9 Most cases of Pilomatrixoma occur in children under the age of 10. Rarely can it present in young adults or the middle age group where there is a female predominance.1,2,12

Keywords: pilomatrixoma, calcifying epithelioma of Malherbe, haemorrhagic purplish nodule, solid and cystic, pleuropotential precursor, mutation, basophilic cells, shadow cells, CTNNB1.

Genetics of Alzheimer’s Disease and Research Frontiers in Dementia

Genetics of Alzheimer’s Disease and Research Frontiers in Dementia

Teaser: 


Lan Xiong, MD, PhD, CHUM Research Centre, Notre-Dame Hospital, Montréal Hospital, Montréal, QC.
Claudia Gaspar, PhD, CHUM Research Centre, Notre-Dame Hospital, Montréal Hospital, Montréal, QC.
Guy A. Rouleau, MD, PhD, FRCPC, CHUM Research Centre, Notre-Dame Hospital, Montréal Hospital, Montréal, QC.

Both Alzheimer’s disease (AD) and frontotemporal dementia (FTD) are genetically complex and heterogeneous disorders. Although fully penetrant (causal) mutations leading to predominantly familial early onset AD have been identified in three genes (APP, PSEN1, and PSEN2), they only account for a small fraction of AD patients. PSEN1 is considered the most frequently mutated gene in early onset AD. Mutations in the microtubule-associated protein tau (MAPT) gene have been reported in up to 50% of hereditary cases of FTD. One partially penetrant genetic risk factor (APOE4) has been established for the more common late-onset form of AD. Despite advances in elucidating the genetic epidemiology of AD and FTD, the etiology for most patients with dementia remains unclear.

Key words: Alzheimer’s disease, frontotemporal dementia, genetics, linkage, mutation.