Hereditary sensory and autonomic neuropathy (HSAN): type IV

Genetics

• This is usually caused by mutations in the NTRK1 gene on chromosome 1
• It has also been reported with mutations in the SCN9A gene
• The transmission is autosomal recessive

Clinical features

Orthopaedic complications

Dermatological complications

Dental complications

Other complications

Differential diagnosis

Investigations

Treatment

Synonym

References

1. Pérez-López LM, Cabrera-González M, Gutiérrez-de la Iglesia D, Ricart S, Knörr-Giménez G. Update review and clinical presentation in congenital insensitivity to pain and anhidrosis. Case Rep Pediatr 2015; 2015:589852. 
2. Auer-Grumbach M. Hereditary sensory neuropathy type 1. Orphanet J Rare Dis 2008; 3:7.
3. Spring PJ, Kok C, Nicholson GA, et al. Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. Brain 2005; 128:2797-2810.
4. Daneshjou K, Jafarieh H, Raaeskarami SR. Congenital insensitivity to pain and anhydrosis (CIPA) syndrome; a report of 4 cases. Iran J Pediatr 2012; 22:412-416.
5. Romagnuolo M, Moltrasio C, Cavalli R, Brena M, Tadini G. A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment. Pediatr Dermatol 2023 (Online ahead of print).
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Related checklists

• Hereditary sensory and autonomic neuropathy (HSAN): classification
• Hereditary sensory and autonomic neuropathy (HSAN): type I
• Hereditary sensory and autonomic neuropathy (HSAN): type II
• Hereditary sensory and autonomic neuropathy (HSAN): type III
• Hereditary sensory and autonomic neuropathy (HSAN): type V
• Hereditary sensory and autonomic neuropathy (HSAN): type VI
• Hereditary sensory and autonomic neuropathy (HSAN): type VII
• Hereditary sensory and autonomic neuropathy (HSAN): type VIII