Dyskeratosis congenita: an inherited bone marrow failure syndrome.

The patient was seen again at 4, 6, and 10 months of age for the same rash. The diagnosis was amended to atopic dermatitis and the treatment was changed to 1% hydrocortisone ointment, to which there was minimal response. At 1 year of age, the child was brought to the ED with fever and rash. This was the first time fever accompanied the rash. Laboratory test results— including a CBC, blood culture, and urinalysis and culture— were normal. The diagnosis was viral exanthema. When the child was 13 months old, a whitish coating developed on her tongue and lips. The diagnosis was thrush.Treatment was prescribed but thrush recurred. She again presented at age 14 and 15 months with the same scaly rash. Again, the diagnosis was atopic dermatitis. Hydrocortisone treatment was continued. At age 19 months, the patient was again brought for care because of worsening rash. This time, there were dark plaques with edema all over her body. The diagnosis was dermatosis and edema. The child was referred to pediatric dermatology. Examination revealed poor dentition, hypopigmented macules on the child’s back and lateral chest, ichthyosiform rash on both lower extremities with fine scale, and spoon-shaped nail changes. A punch biopsy showed dermal fibroplasia, dermal melanophages, and hints of interface dermatitis—findings consistent with dyskeratosis congenita. The child was referred for genetic, neurologic, hematologic, and dental counseling. A pediatric geneticist proposed the diagnosis of autosomal recessive form of dyskeratosis congenita. The child is being followed regularly by dermatology, neurology, and hematology. With X-linked inheritance, only males display symptoms. With autosomal dominant inheritance, one of the patient’s parents is affected. This was not the case with our patient; her parents had a 25% chance of having another child with dyskeratosis congenita.