Johnson neuroectodermal syndrome


Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.


* Deafness * Lack of sense of smell * Small auricle of the ear * Protruding ears * External ear canal atresia * Alopecia * Undeveloped secondary sexual characteristics * Dental caries * Congenital heart defect * Cleft palate


* Nasal and sinus disease –Most common cause of anosmia –Allergic or vasomotor rhinitis and sinusitis result in temporary anosmia: Associated with chronic nasal congestion, rhinorrhea, postnasal drip, pale/boggy nasal mucosa, sinus swelling/tenderness, and headaches –Intranasal polyposis may occur, resulting in obstruction of nasal passages with temporary anosmia * Head/facial trauma –Second most common cause of anosmia –Permanent anosmia may result –CNS rhinorrhea may occur * Post-upper respiratory viral infection –Accounts for 20–30% of cases of anosmia - Iatrogenic –Amphetamines, certain antibiotics, nasal steroids, antithyroid agents, radiation - Poisoning –Chemical pollutants, heavy metals (lead), organic/inorganic compounds - Illicit drugs (e.g., intranasal cocaine) - CNS disorders (e.g., Alzheimer's disease, Parkinson's disease, anxiety disorders) - Neoplasms (e.g., nasal cavity, brain) - Endocrine disorders (e.g., diabetes mellitus, hypothyroidism, adrenal insufficiency) - Congenital disorders (e.g., Kallman's and Turner's syndromes) - Sjögren's syndrome - Vitamin deficiencies (e.g., vitamin B12, zinc)


Audiometry and caloric testing or electronystagmography should be done in almost all cases in which the ear examination is normal. It is probably wise to consult an otolaryngologist at this point. Tympanography will be helpful in diagnosing subtle cases of serous otitis media. X-rays of the mastoids, petrous bones, and internal auditory canal should be done for chronic otitis media, cholesteatoma, and acoustic neuroma. If an acoustic neuroma is suspected, however, an MRI of the brain and auditory canals must be done. If basilar artery insufficiency is suspected, four-vessel cerebral angiography should be done. Magnetic resonance angiography is an excellent noninvasive alternative for diagnosing vertebral-basilar artery disease. If multiple sclerosis is suspected, MRI of the brain, BSEP and VEP studies, and a spinal tap for spinal fluid analysis may be done. Rather than perform these tests, the most cost-effective approach would be to refer the patient to a neurologist if other focal neurologic findings are evident.


Temporary anosmia due to nasal and/or sinus disease is usually successfully treated medically –Systemic and/or intranasal corticosteroids –Antibiotics if coexisting bacterial infection –Antihistamines and avoidance measures if allergic component –Decongestants and/or saline lavage for nasal congestion –Polypectomy and sinus surgery if initial therapy is ineffective * No cure is available for permanent anosmia (e.g., due to postviral infections, trauma, congenital disorders); however, regeneration of neural elements may occur over a period of days to years * Anosmia due to CNS and endocrine diseases require treatment of the underlying illness * Vitamin supplementation in cases of vitamin deficiency


Johnson neuroectodermal syndrome: Another name for Alopecia, anosmia, deafness, hypogonadism syndrome