Dyskeratosis Congenita – Report of a Case with Emphasis on Gingival Aspects Silvia V. Lourenc¸o, D.D.S., Ph.D.,* Paula A. Boggio, M.D., Fernando A. Fezzi, D.D.S.,  Alexandre L. Sebastia˜o, D.D.S., and Marcello Menta S. Nico, M.D., Ph.D.  *Department of General Pathology, Dental School, University of Sa ˜o Paulo, Sa ˜o Paulo, Brazil,  Department of Dermatology, Hospital das Clı´nicas, Medical School, University of Sa ˜o Paulo, Sa ˜o Paulo, Brazil Abstract: A case of dyskeratosis congenita (DC) of an 11-year-old male is reported. He presented with the characteristic clinical triad of reticular pigmentation of the skin, dystrophic nails and oral lesions, and up to the present he had not developed hematological compromise. Oral lesions consisted of extensive tongue erosions and keratosis, and exuberant gin- givitis associated. Appropriate periodontal treatment was performed with discrete improvement only. We emphasize that severe gingival inflammation, although infrequent, may represent an alteration specific to DC and therefore should be considered as an additional sign of this syndrome. Dyskeratosis congenita (DC) is a rare inherited dis- order with variable mode of inheritance, which mainly involves ectodermal derived tissues. It was first described by Zinsser in 1910 and later redefined by Engman and Cole (1). It is characterized by the dermatologic triad of reticulated skin pigmentation, mucosal lesions, and nail dystrophy. Several associated abnormalities are reported in DC, as well as predisposition to malignancy (1–3). Complications include bone marrow failure of unclear physiopathology and malignant neoplasms, which con- stitute the primary cause of death in the second and third decades of life (1–3). We herein report a case of DC of an 11-year-old male, who presented the typical dermatologic features of the disease. Additionally, a severe gingivitis was detected and that may constitute a rare and probably underreported oral finding related to this condition. CASE REPORT An 11-year-old Afro-Brazilian man was referred with a 2-year history of a painful plaque on the tongue. Oral examination showed a keratotic, atrophic, and partially eroded plaque extending form the dorsum to the right lateral border of the tongue (Fig. 1). Physical examina- tion revealed subtle reticulated hyperpigmented macules with mild atrophy, symmetrically distributed on eyelids, face (Fig. 2A), neck (Fig. 2B), upper chest, extensor as- pects of the arms, axilla, and penis and groin (Fig. 2C). Severe 20-nail-dystrophy was also observed (Fig. 3). Both skin and nail lesions appeared approximately at 7 years of age. Personal data was otherwise irrelevant, and familiar history was noncontributory (examination of his parents revealed no abnormalities). A biopsy specimen from the tongue lesion revealed moderate Address correspondence to Dr. Silvia Vanessa Lourenc¸ o, D.D.S., Ph.D., Faculdade de Odontologia da Universidade de Sa˜o Paulo, Disciplina de Patologia Geral, Av Prof Lineu Prestes, 2227, CEP: 05508-000, Cidade Universita´ria, Sa˜o Paulo, SP-Brazil, or e-mail: sloducca@usp.br. DOI: 10.1111/j.1525-1470.2009.00878.x 176 Ó 2009 The Authors. Journal compilation Ó 2009 Wiley Periodicals, Inc. Pediatric Dermatology Vol. 26 No. 2 176–179, 2009