Literature DB >> 145534

[Ichthyosis hystrix gravior typus Rheydt: an otologic-dermatologic syndrome (author's transl)].

J Gülzow, I Anton-Lamprecht.   

Abstract

A case of congenital ichthyosis hystrix gravior combined with non-progressive inner ear hearing loss bordering on deafness is reported. None of the syndromes of keratinization disturbances combined with hearing loss of the inner ear known up to now is comparable. The patient was examined by the dermatologic and otorhino-laryngologic clinics. The findings were presented at the "Südwestdeutschen Dermatologen-Kongress in Heidelberg 1976". Particular otologic findings were a non-progressive inner ear hearing loss bordering on deafness, a fungus-covered cell detritus in the cartilaginous part of the external ear canal, and hyperkeratosis of the auricula. Specific dermatologic findings were skin hyperkeratoses most prominent on face and extremities. In it's ultrastructure, this type is basically different from all other types of inherited ichthyoses that have been studied by electron microscopy. Combined with a lack of normal tonofilaments, an unusual synthesis of large amounts of mucous granules is present under the large spines that is not normally found in healthy skin. No other members of the family are affected.

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Year:  1977        PMID: 145534

Source DB:  PubMed          Journal:  Laryngol Rhinol Otol (Stuttg)        ISSN: 0340-1588


  3 in total

1.  Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy.

Authors:  I Anton-Lamprecht
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 2.  Human diseases associated with connexin mutations.

Authors:  Miduturu Srinivas; Vytas K Verselis; Thomas W White
Journal:  Biochim Biophys Acta Biomembr       Date:  2017-04-27       Impact factor: 3.747

Review 3.  Connexin channels in congenital skin disorders.

Authors:  Evelyn Lilly; Caterina Sellitto; Leonard M Milstone; Thomas W White
Journal:  Semin Cell Dev Biol       Date:  2016-01-13       Impact factor: 7.727

  3 in total

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