Congenital insensitivity to pain with anhidrosis: A case report and literature review

doi:10.3969/j.issn.1004-583X.2023.01.009

Clinical Focus ›› 2023, Vol. 38 ›› Issue (1): 64-67.doi: 10.3969/j.issn.1004-583X.2023.01.009

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Congenital insensitivity to pain with anhidrosis: A case report and literature review

Pang Shu^a, Zhang Mingkai^b, Bai Hongmei^a, Wu Yongdong^c()

a. Department of General Practice, Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China
b. Department of Neurology, Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China
c. Department of Gastroenterology, Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China

Received:2022-10-17 Online:2023-01-20 Published:2023-03-03
Contact: Wu Yongdong E-mail:wuyongdong2018@sina.com

Abstract

Abstract:

Objective To investigate the clinical characteristics, diagnosis and treatment of congenital insensitivity to pain with anhidrosis. Methods The clinical data and gene detection results of a patient with congenital insensitivity to pain with anhidrosis in our hospital was analyzed retrospectively. The related literature were reviewed and summarized. Results A 10-year-old female patient had rough skin, repeated fractures and swelling of the left knee joint for 3 years. The clinical features are rough skin, insensitivity to pain, oral ulcer, absence of finger (toe) nail, Charcot joint of left knee, slight valgus of left knee, repeated falls and fractures, and repeated fever. The results of gene sequencing indicated that the patient had a homozygous variation of C.575-19G>A of NTRK1 gene. She was diagnosed as congenital insensitivity to pain with anhidrosis. Conclusion There are various clinical manifestations of congenital insensitivity to pain with anhidrosis, and there is no radical cure. Prevention and treatment of complications is the main method to improve the survival rate of these patients.

Key words: hereditary sensory and autonomic neuropathies, $N T R K 1$ gene, genetic testing

CLC Number:

R741

Pang Shu, Zhang Mingkai, Bai Hongmei, Wu Yongdong. Congenital insensitivity to pain with anhidrosis: A case report and literature review[J]. Clinical Focus, 2023, 38(1): 64-67.

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Congenital insensitivity to pain with anhidrosis: A case report and literature review

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