Brand-Ad-30-6
 IADVL
Indexed with PubMed and Science Citation Index (E) 
 
Users online: 2590 
     Home | Feedback | Login 
About Current Issue Archive Ahead of print Search Instructions Online Submission Subscribe What's New Contact  
  Navigate here 
  Search
 
   Next article
   Previous article 
   Table of Contents
  
 Resource links
   Similar in PUBMED
    Search Pubmed for
    Search in Google Scholar for
  Related articles
   [PDF Not available] *
   Citation Manager
   Access Statistics
   Reader Comments
   Email Alert *
   Add to My List *
* Registration required (free)  

 
  In this article
   Abstract
   Introduction
   Case Report
   Discussion
   References
   Article Figures

 Article Access Statistics
    Viewed3874    
    Printed82    
    Emailed1    
    PDF Downloaded0    
    Comments [Add]    

Recommend this journal

 


 
CASE REPORT
Year : 1997  |  Volume : 63  |  Issue : 1  |  Page : 47-49

Atypical dyskeratosis congenita


Department of Dermatology, Madras Medical College and Government General Hospital, Madras, India

Correspondence Address:
M Jayaraman
222 RK Mutt Road, Mylapore, Madras-600004.
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


PMID: 20944261

Rights and PermissionsRights and Permissions

  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.


Keywords: Dyskeratosis congenita


How to cite this article:
Krishnan SS, Yesudian P D, Jayaraman M, Janaki V R, Raj JB. Atypical dyskeratosis congenita. Indian J Dermatol Venereol Leprol 1997;63:47-9

How to cite this URL:
Krishnan SS, Yesudian P D, Jayaraman M, Janaki V R, Raj JB. Atypical dyskeratosis congenita. Indian J Dermatol Venereol Leprol [serial online] 1997 [cited 2020 Aug 8];63:47-9. Available from: http://www.ijdvl.com/text.asp?1997/63/1/47/4505



  Introduction Top


Cellular DNA can be damaged by irradiation or mutagenic or carcinogenic chemicals in the environment. Normal individuals possess the ability to repair this damage by a complex series of biochemical pathways. In some diseases, ability to repair damage to the genome is impaired, with features of chromosomal instability and an increased risk of malignancy.[1] These include xeroderma pigmentosum, Bloom's syndrome, Cockayne's syndrome, dyskeratosis congenita and progeria. The following case report is an atypical presentation of dyskeratosis congenita. This is a genetically determined disorder transmitted in a X-linked recessive fashion, though autosomal dominant inheritance has also been reported.[2] The essential features of this syndrome are atrophy and pigmentation of skin, nail dystrophy and oral leucoplakia.


  Case Report Top


A 24-year-old man was referred to the dermatology OP from Gastroenterology department as a case of scleroderma with difficulty in swallowing. The patient was the second child born to non-consanguineous parents and was normal at birth. From the age of 6 years, he developed erythema of the skin with blisters on exposure to sunlight. These had healed with areas of pigmentation and depigmenation. Patient denied developing any blisters over the oral cavity. At the age of 18 years, he developed pain and swelling over the gums. At that time it was found that most of his teeth were carious. Dental extraction was done and patient was given dentures. Now for that past 1 year patient has difficulty in swallowing which was diagnosed as stricture oesophagus and a feeding gastrostomy was done for the same. On examination mental and physical development of the patient was normal. There were areas of hypo and hyperpigmentation of skin with atrophy involving the face, neck, trunk and extremities giving a picture of poikiloderma [Figure - 1]. Nails of both the fingers and toes were normal [Figure - 2],[Figure - 3]. Examination of oral cavity revealed an area of whitish discolouration over the hard palate. Skin over the palms and soles was thick with increased sweating. Hair was normal.

Blood investigations did not reveal any anemia or pancytopenia. Readiography of the skull did not show any area of calcification. A biopsy from the area of poikiloderma showed atrophy of epidermis with macrophages in the dermis laden with melanin. Basal cell degeneration was not prominent.[3] A diagnosis of dyskeratosis congenita was made and patient was given sun screens and advised to avoid sunlight and asked to come regularly for follow up.


  Discussion Top


Dyskeratosis congenita (Zinsser-Cole-Engman syndrome) was first described in 1960 by Zinsser.[4] It is characterised by atrophy and a reticular pigmentation of the skin, dystrophy of the nails and mucosalleuko keratosis, together with multi system ectodermal and mesodermal changes.[5]

Generally nail changes are the first component of the syndrome to appear. Nails become dystrophic with thinning, tapering and they may be reduced to horny plugs or be completely destroyed. In mild cases ridging and longitudinal fissuring occur. In our patient all the toe and finger nails were normal with no history of being shed in the past.

Involvement of oral cavity with leukoplakia, periodontal disease with premature caries of teeth, stricture of oesophagus and other areas of GIT along with pigmentary changes of skin as seen in our patient is commonly seen in persons with this condition. There were no hematological or skeletal abnormalities or malignancies or involvement of the genitourinary tract in our patient although they have been reported in association with dyskeratosis congenita.[1]

Nail involvement is a common and prominent finding in any case of dyskeratosis congenita. To the best of our knowledge, the occurrence without nail chagnes is very rare, though other component may be absent in partial forms. This emphasizes the fact that not all component of the syndrome need to be present in any given patients and in any genodermatosis, pleomorphism may be expected with variable clinical manifestations of a single genetic aberration.

 
  References Top

1.Harper J. Genetics and genodermatoses. In : Champion RH, Burton JL, Ebling FJG, eds. Textbook of dermatology. 5th edn. Oxford : Blackwell, 1992:54-6.  Back to cited text no. 1      
2.Tchou PK, Kohn T. Dyskeratosis congenita : an autosomal dominant disorder. J Am Acad Dermatol 1982;6:1034-9.  Back to cited text no. 2  [PUBMED]    
3.Bryan HG, Nixon RK. Dyskeratosis congenita and familial pancytopenia. JAMA 1965;192:203-8.  Back to cited text no. 3  [PUBMED]    
4.Zinsser F. Atrophia cutis reticularis cum pigmentione, dystrophia unguium et leukokeratosis oris. Ikonogr Dermatol 1960;5:219-23.  Back to cited text no. 4      
5.Arnold HL, Odom RB, James WD. Some genodermatosis. In : Arnold HL, Odom RB, James WD, eds. Andrew's diseases of the skin. 8th edn. Philadelphia : WB Saunders, 1990:674.  Back to cited text no. 5      


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3]



 

Top
Print this article  Email this article
Previous article Next article

    

Online since 15th March '04
Published by Wolters Kluwer - Medknow