Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature

Abstract

Hereditary sensory and autonomic neuropathy (HSAN) IV is a rare autosomal recessive disorder which is characterized by a decrease in the number of myelinated and non-myelinated nerve fibers of peripheral nerves which causes diminished or absent pain sensation leading to increase in self-mutilative habits. A retrospective study of eight cases ranging from age group of 4 to 17 years for oral and digital signs and symptoms is presented. All the patients showed congenital insensitivity to pain and anhidrosis. Oral self-mutilations, such as autoextraction of teeth and severe bite injuries (with resultant scarring) of the finger tips and oral soft tissues (tongue, lip, and buccal mucosa) were found in most patients. Our study suggests that early diagnosis and specific treatment plan are important for prevention of characteristic of the oral as well as digital trauma associated with this disorder.

Automutilação oral em crianças e adolescentes e fatores associados: revisão integrativa

“…Todavia, há envolvimento também de indivíduos sem comorbidades em casos de automutilação oral. É evidente nesses estudos que mais crianças que adolescentes foram mais envolvidas em quadros de automutilação oral (AlSadhan & Al-Jobair, 2017a; Ashwin et al, 2015;Fantuzzo et al, 2014;Soussou et al, 2019;Suhaib et al, 2019 Das 25 crianças órfãs <6 anos, 1 apresentou automutilação oral; entre 7-9 anos (31), 3 apresentaram automutilação oral; >10 anos (34), 4 apresentaram automutilação oral. As crianças do grupo controle nessa faixa etária não apresentaram automutilação oral.…”

Clinical and Radiographic Evaluation of Ten Congenital Insensitivity to Pain with Anhidrosis Patients

“…Regarding the Oro-dental findings, missing teeth was the most commonly seen in our study, followed by the self-inflicted soft tissue injuries. Missing teeth is a frequent finding in CIPA patients (10)(11)(12)(13)(14)(15)(16)(17) . The teeth are usually lost either by auto extraction or by prophylactic extraction in order to avoid further trauma.…”

Two Case Reports of Hereditary Sensory Autonomic Neuropathy Type IV

“…It affects the numbers and distribution of small myelinated and non-myelinated nerve fibers, which is manifested by decreased sensitivity in response to pain, touch and pressure in distal extremities. 1 HSAN is caused by abnormal mutation of the neurotrophic tyrosine kinase receptor (NTRK) type 1 gene. This gene is responsible for nerve growth factor (NGF) effects, and it helps in the development of the nociceptive, sensory and sympathetic neurons during the embryological period.…”