A. Trapani

E. Baruzzi

F. Astolfi

G. Lodi

S. Sutera

AIR Universita degli studi di Milano

Case Report
Tongue ulcer in a case of X-linked
diskeratosis congenita
E. Baruzzi, F. Astolfi, A. Trapani, S. Sutera, G. Lodi
OU Dentistry II - AO San Paolo Hospital Milan, Department of Biomedical, Surgical and
Dental Sciences, University of Milan, Italy
Introduction. Dyskeratosis Congenita (DKC) is characterized by immunodeficiency, bone marrow failure, anomalies
of the skin, nails and mouth, and cancer predisposition. This syndrome affects predominantly males, with onset in
childhood. All individuals with DKC have abnormally short telomeres for their age. The typical oral manifestation is
leukoplakia, that may occur in any region of the mucosa. 
Case details. A male child of 16 months, in apparent good health, was brought by his parents in the emergency
room of the dental clinic of AO San Paolo in Milano, for a lesion of the back of the tongue.
The lesion had been present for about 4 months and its appearance was preceded by a condition that the pediatri-
cian had identified as geographic tongue. The kid did not show any discomfort due to the lesion and he was eating
regularly.
On examination, an ulcer of about 1 cm in diameter, at the center of the back of the tongue was detected. A cell sam-
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ple was collected by brushing for cytology examination. Treatment with topical clobetasol and chlorhexidine gel was
recommended, and complete blood count prescribed. The cytological diagnosis was: “sample consisting of granulo-
cyte layer”. A biopsy was then performed under general anesthesia, but again the pathological diagnosis was incon-
clusive. Genetic tests were performed at the Ospedale Pediatrico Gaslini, in Genova, and a diagnosis of X-linked
dyskeratosis congenita was eventually proposed. The child under wentallogenic stem cell transplantation.
Conclusions. The oral lesion of this young patient was not a typical manifestation of the condition (leukoplakia), but
a putative sign of haematological abnormalities.
References
• Scully C, Langdon J, Evans J. Marathon of eponyms: 26 Zinsser-Engman-Colesyndrome (Dyskeratosis congenita). Oral Dis
2012; 18:522-3.
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Tongue ulcer in a case of X-linked diskeratosis congenita

https://air.unimi.it/retrieve/handle/2434/250062/341030/annali%20stomatologia%202013c.pdf

Tongue ulcer in a case of X-linked diskeratosis congenita

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