A 10-year follow-up of asymptomatic Charcot hip joints caused by CIPA syndrome (congenital insensitivity to pain with anhidrosis) with failure of any surgical reconstructive treatment

Delniotis, Ioannis; Leidinger, Benedikt

doi:10.1093/jscr/rjz154

Cited by 3 publications

(2 citation statements)

References 10 publications

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“…Although the exact prevalence of CIPA is unknown, several hundred cases have been reported worldwide, including in Korea 4 5 6 7 . About 20% of patients with CIPA die before the age 3 of years from heatstroke and other serious systemic complications, such as generalized infection 8 .…”

Section: Discussionmentioning

confidence: 99%

A Case of Generalized Xerotic Eczema in a Patient with Congenital Insensitivity to Pain with Anhidrosis

Hong,

Yoon,

Lee

et al. 2023

Ann Dermatol

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Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare disease characterized by insensitivity to pain, anhidrosis, and intellectual disability. CIPA is caused by a genetic mutation in the neurotrophic tyrosine receptor kinase 1 ( NTRK1 ) gene on chromosome 1. The anhidrosis leads to cutaneous changes such as skin dryness, lichenification, and impetiginization. Moreover, patients with CIPA may experience repeated trauma and recalcitrant eczema due to excessive scratching of wounds on their skin, because they do not feel any pain. Severe whole-body eczema in a patient with CIPA may be overlooked, leading these patients to be frequently diagnosed with atopic dermatitis and common eczema. Indeed, in patients with treatment-resistant or atypically distributed eczema and underlying anhidrosis, CIPA should be considered as a potential causative disease. Increased awareness of CIPA among dermatologists is necessary to ensure that patients receive an appropriate diagnosis. Herein, we report a rare case of generalized xerotic eczema in a patient with CIPA.

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Section: Discussionmentioning

confidence: 99%

A Case of Generalized Xerotic Eczema in a Patient with Congenital Insensitivity to Pain with Anhidrosis

Hong,

Yoon,

Lee

et al. 2023

Ann Dermatol

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“…Because of their insensitivity to pain, patients often show self-harm behaviors occurring in the soft tissues of the hands, lips and tongue [19]. In addition, patients are prone to repeated painless fractures and joint dislocations [20,21]. Patients may still have psychomotor retardation, with an IQ of about 60 [22].…”

Section: Discussionmentioning

confidence: 99%

Novel NTRK1 mutation in Chinese patient with congenital insensitivity to pain with anhidrosis: A Case Report

Sha¹,

Xu²,

Zhai³

et al. 2020

Preprint

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Objective : Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessively inherited disorder characterized by insensitivity to noxious stimuli and inability to sweat. Methods : In this case report, an 18-year-old Chinese boy diagnosed with CIPA with the clinical features of loss of algesthesis, inability to sweat, self-mutilation, developmental delay and dislocation of the left hip joint. Blood samples from the patient was collected and subjected to genetic analysis. Results : Sequencing analysis revealed a novel mutation, c.1769A>G, in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1). In silico studies suggested that the mutations described are detrimental to the function of the protein encoded by the NTRK1 gene. Conclusions : The novel mutation widen the genetic mutation spectrum of NTRK1 in CIPA patients, and provide more evidence for precise diagnosis of the clinically suspected patients with CIPA.

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Conservative Treatment or Surgical Treatment: A Case Report and Literature Review of Multiple Fractures of the Lower Extremities in a Child with Insensitivity to Pain

Shi

et al. 2020

Orthopaedic Surgery

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Congenital pain insensitivity is a rare genetic disease and its clinical manifestations are many. In orthopaedics, common complications of this disease include painless fracture and Charcot's arthropathy. We followed up a case of multiple fractures of the lower extremity in two years, during which time he came to the clinic for five painless fractures of the lower extremity in a total of six parts. A mutation was found on the NTKRI gene (chr1:156813923(hg19), NM_001007792.1: c.1221938C > T). We have developed a combination of surgery and conservative treatments for his condition, focusing on the mental state of the child and considering comprehensive treatment to be the best option for this type of patient. Occult fractures caused by pain insensitivity are often treated only as fractures, however their complications require routine examination and cleaning, suitable protective shoes, splint fixation, stretching, guided exercise planning, and early treatment of injuries. Due to the risk of fracture in the future, it is important that parents pay attention to the behavior and psychology of the child, such as not letting the child participate in exercise with a risk of injury, protective measures while playing, engaging in psychological counseling, and inducing interest in mental activity. These interventions will play a very important role in preventing the recurrence of fracture.

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A 10-year follow-up of asymptomatic Charcot hip joints caused by CIPA syndrome (congenital insensitivity to pain with anhidrosis) with failure of any surgical reconstructive treatment

Cited by 3 publications

References 10 publications

A Case of Generalized Xerotic Eczema in a Patient with Congenital Insensitivity to Pain with Anhidrosis

A Case of Generalized Xerotic Eczema in a Patient with Congenital Insensitivity to Pain with Anhidrosis

Novel NTRK1 mutation in Chinese patient with congenital insensitivity to pain with anhidrosis: A Case Report

Conservative Treatment or Surgical Treatment: A Case Report and Literature Review of Multiple Fractures of the Lower Extremities in a Child with Insensitivity to Pain

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