Literature DB >> 20944261

Atypical dyskeratosis congenita.

S S Krishnan1, P D Yesudian, M Jayaraman, V R Janaki, J B Raj.   

Abstract

Dyskeratosis congenita is a syndrome characterised mainly by pigmentation and atrophy of skin, nail dystrophy and oral leucoplakia. We report a patient who had features consistent with this syndrome including skin atrophy and pigmentation, oral leucoplakia, oesophageal stricture, but with normal finger and toe nails. Even though many variants have been described in the literature sparing of the nails as in our patient is extremely uncommon.

Entities:  

Year:  1997        PMID: 20944261

Source DB:  PubMed          Journal:  Indian J Dermatol Venereol Leprol        ISSN: 0378-6323            Impact factor:   2.545


  2 in total

1.  Dyskeratosis Congenita Without Oral Involvement: A Rare Hereditary Disease.

Authors:  Fariba Iraji; Kioumars Jamshidi; Mohsen Pourazizi; Bahareh Abtahi-Naeini
Journal:  Oman Med J       Date:  2015-05

2.  The gastrointestinal manifestations of telomere-mediated disease.

Authors:  Naudia L Jonassaint; Nini Guo; Joseph A Califano; Elizabeth A Montgomery; Mary Armanios
Journal:  Aging Cell       Date:  2013-01-04       Impact factor: 9.304

  2 in total

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