Congenital insensitivity to pain with anhidrosis. A case report.

Okuno, Tetsuko; Inoue, Akio; Izumo, S

doi:10.2106/00004623-199072020-00018

Cited by 15 publications

(10 citation statements)

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“…1 Musculoskeletal manifestations are very common although the pathology, inheritance, and pathophysiology of these, as well as their relationship to the different subtypes, have only been partially clarified, mainly in case reports. [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] We describe our experience of 13 patients with congenital insensitivity to pain. They had multiple musculoskeletal problems which included infections, fractures, growth disturbances, avascular necrosis (AVN), Charcot arthropathy, joint dislocations and heterotopic ossification.…”

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confidence: 99%

Congenital insensitivity to pain: Orthopaedic manifestations

Bar‐On

Weigl²,

Parvari

et al. 2002

The Journal of Bone and Joint Surgery

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We reviewed 13 patients with congenital insensitivity to pain. A quantitative sweat test was carried out in five and an intradermal histamine test in ten. DNA examination showed specific mutations in four patients. There were three clinical presentations: type A, in which multiple infections occurred (five patients); type B, with fractures, growth disturbances and avascular necrosis (three patients); and type C, with Charcot arthropathies and joint dislocations, as well as fractures and infections (five patients, four with mental retardation). Patient education, shoeware and periods of non-weight-bearing are important in the prevention and early treatment of decubitus ulcers. The differentiation between fractures and infections should be based on aspiration and cultures to prevent unnecessary surgery. Established infections should be treated by wide surgical debridement. Deformities can be managed by corrective osteotomies, and shortening by shoe raises or epiphysiodesis. Joint dislocations are best treated conservatively.

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confidence: 99%

Congenital insensitivity to pain: Orthopaedic manifestations

Bar‐On

Weigl²,

Parvari

et al. 2002

The Journal of Bone and Joint Surgery

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“…HSAN IV is a rare disorder with less than 50 cases reported up to 2006 [1][2][3][4][5][6][7][8]. Early diagnosis is rare because of the initially confusing symptoms and signs.…”

Section: Discussionmentioning

confidence: 99%

“…Osteomyelitis of the calcaneus was considered as a possible diagnosis. Neurological examination of the patient, radiographs and laboratory tests revealed abnormalities characteristic for hereditary sensory and autonomic neuropathy type IV (HSAN IV) [1][2][3][4][5][6][7][8], associated with progressive destructive changes of the tarsal bones, leading to Charcot joint of the hind foot [9]. HSAN constitutes clinically and genetically a very heterogenous group of disorders, affecting small fibrae neurodevelopment with a variable phenotypic expression of the autonomic system [10].…”

Section: Introductionmentioning

confidence: 99%

Hereditary sensory and autonomic neuropathy type IV orthopaedic complications

Mařík¹,

Kuklík²,

Kuklikova³

et al. 2009

Journal of Pediatric Orthopaedics B

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Painless fractures with delayed healing or abnormal callus formation require exclusion of a systemic disorder. We report a 9-year-old girl with hereditary sensory and autonomic neuropathy type IV who developed bone changes in the hind foot after a protracted healing of a tibia fracture. Osteomyelitis was considered as a possible cause of destruction of the tarsal bones. Negative sweat test documented anhydrosis. Late diagnosis in our patient occurred because of an unusual clinical course of the disease.

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“…Neuropathologic fmdings in- absence of unmyelinated fibers and an important reduction of myelinated fibers of small caliber in peripheral nerves. The few cases studied were published mostly under the headings of neurology and neuropediatrics (4)(5)(6)(7)(8)(9)(10)(11)(12)(13).…”

Section: Discussionmentioning

confidence: 99%