Report of three rare cases of Dowling Dego's disease

Dowling Dego's disease is a rare autosomal dominant condition. It is caused by loss of function mutations in keratin 5 gene (kRT5) situated in keratin gene cluster on 12q13. We are reporting three cases of Dowling Dego's disease out of which two belong to same family. The clinical manifest...

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Bibliographic Details
Main Authors: Mohammed Altamash Zubair, Nayeem Sadath Haneef, Fatima Razvi, B. Y. Praveen Kumar, Nikhat Fatima, Neha Chowdary Koganti
Format: Article
Language:English
Published: Deccan College of Medical Sciences 2017-07-01
Series:Journal of Medical and Allied Sciences
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Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=260932
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Summary:Dowling Dego's disease is a rare autosomal dominant condition. It is caused by loss of function mutations in keratin 5 gene (kRT5) situated in keratin gene cluster on 12q13. We are reporting three cases of Dowling Dego's disease out of which two belong to same family. The clinical manifestations and histopathology were analyzed. All the three patients of which two were mother and son had symmetric, reticulate hyperpigmentation, pitted scars and acneiform eruption over face (predominantly perioral area, nasolabial folds), pinnae, upper trunk, thighs were seen. Palms, soles and scalp were spared. Buccal mucosa also showed reticulate hyperpigmentation. In addition the female patient had vulval reticulate hyperpigmentation and hydradenitis suppurativa affecting axillae, groins and inframammary folds. [J Med Allied Sci 2017; 7(2.000): 122-125]
ISSN:2231-1696
2231-170X