Osteoarticular manifestations of congenital insensitivity to pain with anhydrosis

Szöke, George; Rényi-Vámos, A; Bider, M. A.

doi:10.1007/s002640050041

Cited by 23 publications

(19 citation statements)

References 7 publications

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“…However, in our study, joint dislocations and infections had no apparent relationship with age. Previous studies have not documented the age of onset of bone disorders in CIPA and similar conditions [14,15].…”

Section: Discussionmentioning

confidence: 96%

“…Although skeletal-system complications are more common in the lower limbs, almost all bones and joints may be affected. Szöke et al [14] reported that 58 % of patients with CIPA had osteoarticular disorders of the feet and ankles, 53 % of the knees, and 26 % of the hips. Bar-On et al [15] reported that in 31 fractures in patients with congenital insensitivity to pain, 28 occurred in the lower limbs.…”

Section: Discussionmentioning

confidence: 99%

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Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese

Zhang

Haga

2014

Journal of Orthopaedic Science

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese

Zhang

Haga

2014

Journal of Orthopaedic Science

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“…According to literature, the first step in the diagnosis of CIPA syndrome is consideration of the clinical presentation based on the combination of three basic signs: insensitivity to pain, anhidrosis, and mental retardation [ 3 , 4 ]. Other possible signs may be associated: impaired temperature sensation [ 5 ], facial alterations [ 6 ], mandibular osteolysis [ 7 ], dental caries [ 6 ], and premature tooth loss [ 6 ]; repetitive soft tissue and osseous infections of hematogenous origin [ 33 ], mainly caused by S. aureus [ 25 ]; self-mutilating behavior [ 7 ]; occasional microcephaly [ 5 , 24 ]; urine and fecal incontinence [ 11 ]; growth disturbances; and heterotopic ossification [ 7 , 35 , 36 ].…”

Section: Discussionmentioning

confidence: 99%

Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis

Perez-Lopez

Cabrera-González

Iglesia

et al. 2015

Case Reports in Pediatrics

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Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor (NGF). Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities. A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper. Conclusions. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. We propose two new important concepts in the therapeutic approach for these patients: (1) early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2) bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures.

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“…Musculoskeletal complications are frequent in HSAN-IV and -V, and include repeated fractures and joint dislocations, arthritis and osteomyelitis, avascular necrosis, and Charcot arthropathy, mainly in the lower extremities. [16][17][18][19] A review of Japanese patients with HSAN-IV showed that fractures are frequent between 1 and 7 years of age, whereas other complications have no apparent age relationship. 20 Fractures and dislocations develop in HSAN-IV and -V, even without any apparent trauma or following minor trauma, such as short falls (Fig.…”

Section: Musculoskeletal Complicationsmentioning

confidence: 99%

Hereditary sensory and autonomic neuropathy types IV and V in Japan

Haga

Kubota

Miwa

2015

Pediatrics International

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Hereditary sensory and autonomic neuropathy (HSAN) is a group of genetic disorders involving varying sensory and autonomic dysfunction. HSAN types IV and V are characterized by congenital generalized loss of pain and thermal sensation. HSAN type IV is additionally accompanied by decreased sweating and intellectual disability. From 2010 to 2013, we (members of the Japanese Research Group on Congenital Insensitivity to Pain) carried out research on HSAN types IV and V. Research by this group included epidemiological data, examination of clinical findings, solutions of disease etiology, investigation of complications and development of their management. Complications were categorized into musculoskeletal complications, oral/dental complications, dermal complications, ocular complications, complications resulting from impaired thermal control, anesthetic considerations, other complications possibly related to autonomic dysfunction, and abnormal mental development and behavior. Treatment and care for patients with HSAN types IV and V require a wide range of knowledge and experience, and a multidisciplinary team approach. Therefore, we produced the "Guideline of Total Management and Care for Congenital Insensitivity to Pain (Ver.1)" in 2012, to provide information for medical specialists based on our knowledge and experience. This guideline includes medical issues, as well as descriptions of social participation and welfare. This review outlines the situation of HSAN types IV and V in Japan, and the recommendations of treatment and care for patients, mostly based on research conducted by the Japanese Research Group.

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Osteoarticular manifestations of congenital insensitivity to pain with anhydrosis

Abstract: We report the case history of a boy who suffered from congenital insensitivity to pain with anhydrosis. We discuss the orthopaedic disorders occurring in 21 cases reported in the literature.

Cited by 23 publications

References 7 publications

Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese

Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese

Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis

Hereditary sensory and autonomic neuropathy types IV and V in Japan

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