We present a five-year-old girl with congenital insensitivity to pain with anhidrosis. A skeletal radiographic survey revealed several old fractures. Application of pilocarpine showed anhidrosis and nerve biopsy revealed a significant decrease in the number of myelinated and unmyelinated nerve fibres.

Like many other complex biological phenomena, pain is starting to be studied at the level of the gene. Advances in molecular biological technology have allowed the cloning, mapping, and sequencing of genes, and also the ability to disrupt their function entirely (i.e. via transgenic knockouts). With these new tools at hand, pain researchers have begun in earnest the task of defining (a) which o...

Theories of empathy differ regarding the relative contributions of automatic resonance and perspective taking in understanding others' emotions. Patients with the rare syndrome of congenital insensitivity to pain cannot rely on "mirror matching" (i.e., resonance) mechanisms to understand the pain of others. Nevertheless, they showed normal fMRI responses to observed pain in anterior mid-cingula...

Neurophysiology. Nerve growth factor (NGF) is a neurotropic factor essential for the survival and maintenance of NGF-dependent neurons. NGF-dependent neurons include NGF-dependent primary afferents and sympathetic postganglionic neurons in the peripheral nervous system (PNS). NGF-dependent neurons in the PNS form an interface between the nervous system and the body-proper (the organism minus th...

Pain asymbolics feel pain, but act as if they are indifferent to it. Nikola Grahek argues that such patients present a clear counterexample to motivationalism about pain. I argue that Grahek has mischaracterised pain asymbolia. Properly understood, asymbolics have lost a general capacity to care about their bodily integrity. Asymbolics’ indifference to pain thus does not show something about th...

BACKGROUND Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 has recently been identified as a new gene that can cause CIP. The full phenotype and natural history have not yet been reported. METHODS We have ascertained five adult patients and report their c...

OBJECTIVE Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. We sought to investigate for SCN9A mutations in a clinically well-characterised cohort of patients with CIP and erythromelalgia. METHODS We sequenced all exons of ...

This report describes a 23-year-old man who presented with multiple joint deformities as a consequence of multiple painless intra-articular fractures.Blood counts, biochemistry, and nerve conduction velocity were all normal. X-ray studies showed joint destruction in hips, elbows and knees.We concluded that he is a case of congenital insensitivity to pain culminating in multiple charcot joints.

Elna M. Nagasako, Anne Louise Oaklander, Robert H. Dworkin* Washington University School of Medicine, St. Louis, MO, USA Nerve Injury Unit, Departments of Anesthesiology, Neurology, and Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA Department of Anesthesiology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 604, Rochester, ...