Oral lesions in a dyskeratosis congenital patient treated with bone marrow transplantation: challenges in differential diagnosis

Background

Dyskeratosis congenita (DKC) represents a rare hereditary disorder resulting from mutations in DKC-1 gene usually displaying an X-linked recessive trait. The classic clinical triad of DKC includes hyperpigmentation of the skin, nail dystrophy, and white plaques of the oral mucosa, along with a high incidence of aplastic anemia development. Herein, a well-documented case of DKC is described with emphasis on differential diagnostic dilemmas.

Case Description

A 25-year-old male, nonsmoker, and nonalcohol drinker, was referred for evaluation of long-standing oral white lesions. The patient had a molecularly-confirmed diagnosis of DKC since age 8 for which he underwent hematopoietic stem cell transplantation (HSCT) at age 11. A history of oral painful lesions, first noticed a few years after birth, was also reported; following HSCT, oral white and ulcerative lesions were periodically managed with topical immunosuppressive regimens. On clinical intraoral examination, multifocal nondetached oral white patches and prominent atrophy of the dorsal tongue were evident; in addition, loss of elasticity of the oral tissues with fibrous bands of the buccal mucosa and limited mouth opening were also observed, raising the possibility of sclerodermatous chronic graft-versus-host disease (cGVHD). Further, cutaneous reticular hyperpigmentation, dystrophic nails, and alopecia were present. Biopsies of tongue white lesions showed dysplastic changes. Laser ablation of the residual white lesions and close follow-up appointments were suggested.

Discussion and Conclusions

Oral white plaques in DKC patients exhibit a significant potential for malignant transformation; concomitant cGVHD development in HSCT recipients is possible and might perplex the diagnosis of oral lesions. Biopsy and histopathologic evaluation of suspicious lesions are essential for diagnosis and risk assessment of malignant transformation, while close monitoring is also of high importance. Oral manifestations DKC and cGVHD may show significant overlap, while both conditions may coexist and potentially synergistically contribute to the risk of malignant transformation.