Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.
Atrophy ; Case Report ; Fingers ; Human ; Hypohidrosis/pathology* ; Hypohidrosis/complications ; Infant ; Korea ; Male ; Mental Retardation/pathology ; Mental Retardation/complications ; Microscopy, Electron ; Nerve Fibers/ultrastructure ; Nerve Fibers/pathology ; Pain Insensitivity, Congenital/pathology* ; Pain Insensitivity, Congenital/complications ; Self Mutilation/pathology ; Self Mutilation/etiology ; Sural Nerve/pathology ; Tongue

This case report describes a case of self-inflicted chronic bacterial keratoconjunctivitis involving the patient's own semen. A 20-year-old male soldier was referred to our clinic for the evaluation of refractory chronic bacterial conjunctivitis. Over the previous 4 months, he had been treated for copious mucous discharge, conjunctival injection, and superficial punctate keratitis in both eyes at an army hospital and a local eye clinic. Despite the use of topical and systemic antibiotics according to the results of conjunctival swab culture, there was no improvement. During the repeated smear and culture of conjunctival swabs, surprisingly, a few sperm were detected on Gram staining, revealing that the condition was self-inflicted bacterial keratoconjunctivitis involving the patient's own semen. Thus, in cases of chronic keratoconjunctivitis that do not respond to appropriate antibiotic treatment, self-inflicted disease or malingering should be considered.
Chronic Disease ; Conjunctiva/*injuries/microbiology/pathology ; Cornea/microbiology/*pathology ; Diagnosis, Differential ; Eye Infections, Bacterial/diagnosis/*etiology/microbiology ; Eye Injuries/*complications/diagnosis ; Humans ; Keratoconjunctivitis/diagnosis/*etiology/microbiology ; Male ; Self Mutilation/*complications/diagnosis ; *Semen ; Young Adult