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Dyskeratosis congenita diagnosed in an adult male: clinical, dermoscopy and histopathological features

Margaret Stephanie L. Jimenez, MD, Mary Jo Kristine S. Bunagan MD, FPDS, Claribel L. Jimenez, MD, FPDS

Abstract

Dyskeratosis congenita (DC), otherwise known as Zinsser-Engman Cole Syndrome is associated with the mucocutaneous triad of nail dystrophy, oral leukoplakia and abnormal reticulate skin pigmentation.1Ninety percent present with nail dystrophy initially affecting the fingernails followed by the toenails. It may begin with nail ridging and longitudinal splitting resulting in small or absent nails. Eighty percent of affected individuals present with mucosal leukoplakia which is a pathognomonic feature involving the buccal mucosa, tongue, and oropharynx. Noncutaneous abnormalities may also be observed in the gastrointestinal, genitourinary, neurological, ophthalmic and skeletal systems.

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Dyskeratosis congenita diagnosed in an adult male: clinical, dermoscopy and histopathological features

Margaret Stephanie L. Jimenez, MD, Mary Jo Kristine S. Bunagan MD, FPDS, Claribel L. Jimenez, MD, FPDS

Abstract

References

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Dyskeratosis congenita diagnosed in an adult male: clinical, dermoscopy and histopathological features