Gelsolin amyloidos (GA), familial amyloid polyneuropathy type IV, is a rare familial amyloidosis of the Finnish type described by Meretoja.  This report describes the first Indian family of GA.
A 54-year-old man presented with facial twitching of 1-2 years duration. Examination revealed bifacial paresis (lower > upper face), cutis laxa (CL) of face and trunk, twitching of lower facial muscles and dysarthria [Figure 1]. Seven family members had a similar phenotype [Video 1] [Figure 2]. Most of them had developed the facial changes in their fifth decades. Slit lamp examination showed corneal Lattice dystrophy type II in the patient and his daughter [Figure 3]. Magnetic resonance imaging of brain and spine were normal. Superficial radial nerve biopsies showed multifocal amyloid deposits in the perineurium > endoneurium > epineurial blood vessel wall of the nerve. The endoneurial deposits were mainly perivascular [Figure 4]. Genetic testing was unaffordable.
GA is a rare autosomal dominant disease. Amyloid in these patients is formed from the protein product of the gelsolin gene. Gelsolin is a cytosolic protein associated with actin with both intracellular and extracellular functions.  A mutation in the gelsolin coding area (q32-34) of chromosome 9 produces an abnormal gelsolin fragment that leads to self-sustaining amyloidogenesis and systemic deposition with disruption of basement membranes in various structures. ,,
Figure 1: Photographs of Proband (Panel a) and his younger brother (8th sibling) (Panel b) show saggy facies and dermatochalasis with smooth brows. Panel c shows cutis laxa. Panel d shows the 'plucked chicken appearance of the skin over the neck'
Figure 3: Panel A - slit lamp photograph of the cornea shows corneal anterior stromal dystrophy; both lattice and granular deposits suggestive of Lattice dystrophy type II. Panel B - slit lamp photograph of the daughter's cornea shows amyloid deposits consistent with Lattice dystrophy. Panel C - fundus photography shows normal optic discs with mild superior retinal nerve fiber defects
Figure 4: Superficial radial nerve biopsy. (a) Large eosinophilic amyloid deposits in the perineurium of a small nerve funicle (asterisk). (b) Deposit exhibits apple green birefringence under the polarizer. (c) An epineurial vessel (arrow) and perineurium (arrowhead) show amyloid deposits. (a: H and E, original magnification ×160; b and c: Congo red, original magnification ×160)
GA starts in the third decade of life with corneal lattice dystrophy.  Upper facial paresis followed by lower facial paresis is then seen. Lower cranial nerves including the IX, X and XII nerves can be involved. Peripheral and autonomic nerves are mildly affected.  GA deposition in the basement membrane of the skin produces CL, pruritis, hypohidrosis, easy bruisability, dermatochalasia and macroglossia.  Late stage systemic involvement leads to renal amyloidosis, cardiac conduction abnormalities or cerebral amyloid angiopathy. , Histopathological examination reveals amyloid deposition in the perineurial sheaths and vessel walls especially in the nerve roots.  Amyloid is found in the cornea, conjunctiva, sclera, nerves and vessels in the eye. Mutation analysis is definitive; however it is expensive. In conclusion, we have described the first family of GA from India.
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