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Cutaneous Manifestations of Familial Transthyretin Amyloid Polyneuropathy
- Source :
- The American Journal of Dermatopathology. 38:719-725
- Publication Year :
- 2016
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2016.
-
Abstract
- Familial amyloid polyneuropathy (FAP) is a rare inherited autosomal dominant form of systemic amyloidosis, which classically presents with severe motor, sensory, and autonomic dysfunction. Cutaneous involvement does not become clinically apparent until late stage symptomatic disease and is rarely reported in modern literature. Here, the authors review the clinical and histologic cutaneous findings of FAP previously described in the literature and report on 3 patients with unique genetic mutations (Thr60Ala and Gly6Ser; Trp41Leu; Glu89Gln) for which cutaneous involvement has not previously been described. Histologically, our patients showed variable amyloid deposition in the subcutaneous adipose tissue, papillary dermis, and dermal blood vessel walls. A review of the literature suggests cutaneous transthyretin deposition is an underrecognized feature of FAP that occurs early on in disease, even before neural involvement and related symptoms as seen in one of our patients. As such, a cutaneous punch biopsy can serve as quick, easy, and relatively noninvasive diagnostic tool in suspected cases.
- Subjects :
- Genetic Markers
Male
Pathology
medicine.medical_specialty
Biopsy
DNA Mutational Analysis
Dermatology
Disease
Pathology and Forensic Medicine
030207 dermatology & venereal diseases
03 medical and health sciences
0302 clinical medicine
Predictive Value of Tests
Humans
Prealbumin
Medicine
Genetic Predisposition to Disease
Aged
Skin
Amyloid Neuropathies, Familial
biology
medicine.diagnostic_test
business.industry
Papillary dermis
Late stage
General Medicine
Middle Aged
Prognosis
Immunohistochemistry
Amyloid Neuropathy
Transthyretin
Early Diagnosis
Phenotype
Mutation
Disease Progression
Amyloid polyneuropathy
biology.protein
Female
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 01931091
- Volume :
- 38
- Database :
- OpenAIRE
- Journal :
- The American Journal of Dermatopathology
- Accession number :
- edsair.doi.dedup.....7e872869c73abbf8904d8affc205aa41