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Page 1
Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey.
Higashimoto T, Garber ME, Hipp L, Damon J, Li Q. Higashimoto T, et al. Mol Genet Genomic Med. 2024 Oct;12(10):e70027. doi: 10.1002/mgg3.70027. Mol Genet Genomic Med. 2024. PMID: 39465509 Free PMC article.
BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal-recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV). ...Major j …
BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare …
Congenital insensitivity to pain with anhidrosis.
Ayyazuddin M, Maqsood N, Khan SS, Ali M, Kakalia S. Ayyazuddin M, et al. J Pak Med Assoc. 2025 Jun;75(6):984-987. doi: 10.47391/JPMA.11450. J Pak Med Assoc. 2025. PMID: 40698480 Free article.
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is characterised by disruption of sensory neurons caused by genetic mutations in the Neurotrophic Tyrosine Kinase 1 (NTRK1) gene which leads to impaired pain sensation, accomp …
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is characterised by disruption of s …
Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.
Masri A, Shboul M, Khasawneh A, Jadallah R, ALmustafa A, Escande-Beillard N, Hamamy H, Bakri F, Reversade B. Masri A, et al. Clin Neurol Neurosurg. 2020 Feb;189:105636. doi: 10.1016/j.clineuro.2019.105636. Epub 2019 Dec 9. Clin Neurol Neurosurg. 2020. PMID: 31841741
OBJECTIVES: To present the clinical picture, the associated complications and the genetic findings of Jordanian patients diagnosed with Congenital insensitivity to pain with anhidrosis (CIPA). PATIENTS AND METHODS: This is a retros …
OBJECTIVES: To present the clinical picture, the associated complications and the genetic findings of Jordanian patients diagnosed with C …
A rare case of congenital insensitivity to pain with anhidrosis.
Sreenivasan V, Karunakar P, Madhileti S, Govindaswamy Ramamoorthy J, Gulati R. Sreenivasan V, et al. Paediatr Int Child Health. 2024 Aug;44(2):59-62. doi: 10.1080/20469047.2024.2344879. Epub 2024 Apr 24. Paediatr Int Child Health. 2024. PMID: 38659257
On performing clinical exome sequencing, the diagnosis of congenital insensitivity to pain with anhidrosis (CIPA) of autosomal recessive inheritance was confirmed. A novel, predicted to be pathogenic variant detected at exon 16 of …
On performing clinical exome sequencing, the diagnosis of congenital insensitivity to pain with anhidr …
Congenital Insensitivity to Pain with Anhidrosis: A Case with Self-Inflicted Oral Ulcerations.
Soussou R, Cheung WS, Campbell KM. Soussou R, et al. J Dent Child (Chic). 2019 May 15;86(2):109-112. J Dent Child (Chic). 2019. PMID: 31395116
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is a rare autosomal recessive condition. ...The signs and symptoms of CIPA may not be easily diagnos …
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory a …
Exploring CNS Involvement in Pain Insensitivity in Hereditary Sensory and Autonomic Neuropathy Type 4: Insights from Tc-99m ECD SPECT Imaging.
Chiang CC, Wu YC, Lan CH, Wang KC, Tang HC, Chang ST. Chiang CC, et al. Tomography. 2023 Dec 18;9(6):2261-2269. doi: 10.3390/tomography9060175. Tomography. 2023. PMID: 38133079 Free PMC article.
Hereditary sensory and autonomic neuropathy type 4 (HSAN4), also known as congenital insensitivity to pain with anhidrosis (CIPA), is a rare genetic disorder caused by NTRK1 gene mutations, affecting nerve growth factor sign …
Hereditary sensory and autonomic neuropathy type 4 (HSAN4), also known as congenital insensitivity to pain …
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM. Altassan R, et al. Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120. Am J Med Genet A. 2017. PMID: 28328124
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavio …
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive dis …
Oral and Maxillofacial Management in Patients With Congenital Insensitivity to Pain and Anhidrosis (CIPA).
Yefet E, Shmueli M, Givol N, Pikovsky A. Yefet E, et al. Spec Care Dentist. 2025 Jul-Aug;45(4):e70073. doi: 10.1111/scd.70073. Spec Care Dentist. 2025. PMID: 40678988
PURPOSE: This retrospective cross-sectional study aims to elucidate the challenging oral and maxillofacial management associated with congenital insensitivity to pain with anhidrosis (CIPA), emphasizing the need for early intervent …
PURPOSE: This retrospective cross-sectional study aims to elucidate the challenging oral and maxillofacial management associated with con …
Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.
Li S, Ren X, Guan Y, Zhao F, Cao Y, Geng X, Wang Y, Wu N, Wu L, Zhao X. Li S, et al. Pain. 2024 Sep 1;165(9):1926-1943. doi: 10.1097/j.pain.0000000000003252. Epub 2024 May 31. Pain. 2024. PMID: 38833577
Pathogenic variations in the NTRK1 can cause congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive inherited neuropathy. ...When combined with data from another 53 CIPA patients examined in our …
Pathogenic variations in the NTRK1 can cause congenital insensitivity to pain with anhidrosis ( …
Congenital Insensitivity to Pain With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study.
Maazi M, Lam JM. Maazi M, et al. Pediatr Dermatol. 2025 Jan-Feb;42(1):103-105. doi: 10.1111/pde.15784. Epub 2024 Oct 18. Pediatr Dermatol. 2025. PMID: 39420746 Free PMC article.
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy (HSAN) type IV, is an extremely rare autosomal recessive congenital condition characterized by …
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory a …
55 results