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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Arq. Neuro-Psiquiatr. vol.76 no.8 São Paulo Aug. 2018 

Images in Neurology

Perforating palmar disease in TTR-related familial amyloid polyneuropathy

Mal perfurante palmar na polineuropatia amiloidótica familiar ligada à TTR

Paulo Victor Sgobbi de Souza1 

Thiago Bortholin1 

Carlos Alberto Castro Teixeira1 

Daniel Delgado Seneor1 

Vitor Dias Gomes Barrios Marin1 

Fernando George Monteiro Naylor1 

Wladimir Bocca Vieira de Rezende Pinto1 

Acary Souza Bulle Oliveira1 

1Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil

A 60-year-old retired woman presented with upper and lower limb paresthesias since age 40 and chronic diarrhea and weakness. She worked as a teacher. Her deceased mother had experienced similar symptoms. Neurological examination disclosed dysautonomic features (Figure 1), severe sensory loss of vibration and proprioceptive senses and a moderate decrease of pain and temperature sensation with stocking-glove distribution, and perforating palmar disease (Figure 2). Neurophysiological studies disclosed severe axonal sensorimotor polyneuropathy. Laboratory tests were unremarkable. The pathogenic heterozygous variant Val50Met in the TTR gene defined TTR-related familial amyloid polyneuropathy1. This finding highlights perforating palmar disease as a rare complication of familial amyloid polyneuropathy2,3. Neurogenic perforating palmar ulcers may occur in neuropathies due to: (i) severe distal sensory loss and high risk of multiple local microtrauma; (ii) vasomotor disturbances to peripheral dysautonomia and sympathetic dysfunction with chronic hypoperfusion4.

Figure 1 Dysautonomic and sensory and motor findings in TTR-related familial amyloid polyneuropathy. Clinical examination showing skin color changes, mild edema (A), and bilateral foot drop (B), which initiated a neuropathic steppage gait. Plantar surfaces of both feet were spared from ulcerations. 

Figure 2 Perforating palmar disease and neuropathic ulceration in a patient with familial amyloid polyneuropathy. Examination showing the presence of neurogenic ulcer in the right hand, marked distal amyotrophy of thenar and hypothenar region of both hands, and skin color changes. Perforating palmar disease is more commonly associated with chronic sensory polyneuropathy, such as diabetes, leprosy and vasculitis1,2,3


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2. Izadyar S, Kwan JY, Gundogdu BM, Phan CL, Harati Y. Mutilating acral ulcers: the spectrum of differential diagnosis. J Clin Neuromuscul Dis. 2009 Mar;10(3):126-34. ]

3. Shin SC, Robinson-Papp. Amyloid neuropathies. Mt Sinai J Med. 2012 Nov;79(6):733-48. ]

4. Araújo AQ, Barros Neto H, Bulcão H, Nascimento OJ. Trophic ulcers in the carpal tunnel syndrome. Arq Neuropsiquiatr. 1993 Sep;51(3):386-8. ]

Received: January 03, 2018; Revised: April 09, 2018; Accepted: April 11, 2018

Correspondence: Paulo Victor Sgobbi de Souza; Departamento de Neurologia e Neurocirurgia da UNIFESP; Rua Estado de Israel, 899; 04022-002 São Paulo SP, Brasil; E-mail:

Conflict of interests: There is no conflict of interest to declare.

Creative Commons License This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.