• Clinical and Experimental Pediatrics
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• v.46 no.4
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• pp.389-392
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• 2003

Netherton's syndrome is an unusual disorder which consists of triad of ichtyosiform dermatosis, multiple defects of hair shaft and an atopic diathesis. The finding of bamboo hair is pathognomic in Netherton's syndrome and the ichthyosiform dermatosis may consist of either ichtyosis linearis circumflexa or congenital ichthyosiform erythroderma. Often, variability in the clinical features leads to a delay in diagnosis in many cases. We report a case of Netherton's syndrome diagnosed in the neonatal period. The patient presented with severe ichthyosis and confirmed microscopically distinctive bamboo hair.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1981.05a
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• pp.40.3-41
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• 1981

The ichthyosiform dermatosis is consisted of a heterogenous group of hereditary disorders. Authors report a case of 26 year old female patient who has congenital ichthyosiform dermatosis associated with sensorineural hearing loss, neovascularization of cornea, partial alopecia and abnormalities of nails and teeth. The audiological findings of this patient were as follows: 1. Bilateral severe sensorineural hearing loss. 2. SISI scores: 100% at 1, 000 Hz and 4, 000 Hz on both ear. 3. Tone decay test: 25 dB decay at 1, 000 Hz and 4, 000 Hz respectively on both ear. 4. SRTs : 85 dB on both ear. 5. Speech discrimination scores : 80% at 95 dB hearing level(MCL) on both ear. With above results, cochlear lesion is suspected in this syndrome.