Dyskeratosis congenita: a rare case report

Abstract

Dyskeratosis congenita (DKC) is a rare genetic disorder characterized by lacy reticular skin hyperpigmentation, bone marrow failure, nail dystrophy, and oral leukoplakia. To the best of our knowledge, only around 200 cases were reported in the medical literature, and in this report, we present another distinctive case from Syria. This case report describes a male patient with generalized reticular pigmentation and abnormal nails since childhood. The patient reported a history of recurrent urethral stenosis and corneal density. Dermoscopic examination revealed pigmented lines arranged in a netlike pattern. Histopathological findings were nonspecific. Hematological values were unremarkable. A contrast CT scan revealed changes in the bladder wall. The final diagnosis of Dyskeratosis Congenita was made based on the clinical criteria. This disorder can present with additional cutaneous manifestations and systemic complications. Treatment are generally prescribed to maintain bone marrow function, based on the fact that it is the major cause of death. Regular monitoring and screening for associated conditions are recommended.

Keywords: bone marrow failure; dyskeratosis congenita; hyperpigmentation; incontinent melanin; leukoplakia; nail dystrophy; telomerase.

Figure 1

(A–D) Clinical images of the patient show diffuse reticular hyperpigmentation on the trunk (A and B) and on the extremities (C and D).

Figure 2

(A–D) Clinical images of fingers. Longitudinal ridging and dystrophy of finger- and toenails are seen.

Figure 3

Dermoscopy image shows pigmented lines made up of dots and globules arranged in a netlike pattern.

Figure 4

(A and B) Histopathologic findings of the biopsy showing nonspecific features. (A) The thin epidermis, hyperkeratosis, and superficial peri-vascular lymphocytic infiltrate are identified (H&E 40×). (B) Incontinent melanin (melanophages in the dermis) is present (H&E 100×).