Generic selectors
Exact matches only
Search in title
Search in content
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Retraction
Review
Review Article
Review Articles
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
Case Report
1997:63:1;47-49
PMID: 20944261

Atypical dyskeratosis congenita

SG S Krishnan, P Devakar Yesudian, M Jayaraman, VR Janaki, JM Boopal Raj
 Department of Dermatology, Madras Medical College and Government General Hospital, Madras, India

Correspondence Address:
M Jayaraman
222 RK Mutt Road, Mylapore, Madras-600004.
India
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;63:47-49
Copyright: (C)1997 Indian Journal of Dermatology, Venereology, and Leprology

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

Introduction

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

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

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
1.
Harper J. Genetics and genodermatoses. In : Champion RH, Burton JL, Ebling FJG, eds. Textbook of dermatology. 5th edn. Oxford : Blackwell, 1992:54-6.
[Google Scholar]
2.
Tchou PK, Kohn T. Dyskeratosis congenita : an autosomal dominant disorder. J Am Acad Dermatol 1982;6:1034-9.
[Google Scholar]
3.
Bryan HG, Nixon RK. Dyskeratosis congenita and familial pancytopenia. JAMA 1965;192:203-8.
[Google Scholar]
4.
Zinsser F. Atrophia cutis reticularis cum pigmentione, dystrophia unguium et leukokeratosis oris. Ikonogr Dermatol 1960;5:219-23.
[Google Scholar]
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.
[Google Scholar]
Show Sections