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Related Experiment Video

Updated: Jun 8, 2026

Combining Reflectance Confocal Microscopy with Optical Coherence Tomography for Noninvasive Diagnosis of Skin Cancers via Image Acquisition

Combining Reflectance Confocal Microscopy with Optical Coherence Tomography for Noninvasive Diagnosis of Skin Cancers via Image Acquisition

Published on: August 18, 2022

Atypical dyskeratosis congenita.

S S Krishnan¹, P D Yesudian, M Jayaraman

¹Department of Dermatology, Madras Medical College and Government General Hospital, Madras, India.

Indian Journal of Dermatology, Venereology and Leprology

|October 15, 2010

Summary

Dyskeratosis congenita is a rare genetic disorder. This case study highlights an unusual presentation with normal nails, a feature rarely seen in this syndrome.

Area of Science:

Genetics
Dermatology
Rare Diseases

Background:

Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome.
Characteristic features include mucocutaneous abnormalities and predisposition to cancer.
Typical mucocutaneous signs are skin atrophy/pigmentation, nail dystrophy, and oral leukoplakia.

Purpose of the Study:

To report an atypical case of Dyskeratosis congenita.
To highlight a rare variant of DC with normal nail findings.
To discuss the diagnostic challenges and implications of this presentation.

Main Methods:

Case report and clinical review.
Detailed patient history and physical examination.
Review of relevant literature on Dyskeratosis congenita variants.

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Main Results:

The patient presented with skin atrophy, skin pigmentation, oral leukoplakia, and esophageal stricture.
Notably, the patient exhibited normal finger and toe nails.
This presentation deviates from the classic nail dystrophy associated with DC.

Conclusions:

Dyskeratosis congenita can present with significant variations.
Nail sparing is an extremely uncommon but possible manifestation of DC.
Recognition of atypical presentations is crucial for accurate diagnosis and management.