OPTION 3

•            Dyskeratosis congenita is a rare genodermatosis that is usually inherited as an X-linked recessive trait, resulting in a striking male predilection.

•            Dyskeratosis congenita usually becomes evident during the first 10 years of life. A reticular pattern of skin hyperpigmentation develops, affecting the face, neck, and upper chest. In addition, abnormal, dysplastic changes of the nails are evident at this time Intraorally, the tongue and buccal mucosa develop bullae; these are followed by erosions and, eventually, leukoplakic lesions. The leukoplakic lesions are considered to be premalignant, and approximately one-third of them become malignant in a 10- to 30-year period.

•            The actual rate of transformation may be higher, but this may not be appreciated because of the shortened life span of these patients. Rapidly progressive periodontal disease has been reported sporadically.

 

•            Thrombocytopenia is usually the first hematologic problem that develops, typically during the second decade of life, followed by anemia. Ultimately, aplastic anemia develops in approximately 80% of these patients. Mild to moderate intellectual disability may also be present.

•            Generally, the autosomal recessive and X-linked recessive forms show a more severe pattern of disease expression.

 

Key concept:

 

• Dyskeratosis congenita usually becomes evident during the first 10 years of life.

• A reticular pattern of skin hyperpigmentation develops, affecting the face, neck, and upper chest.

• In addition, abnormal, dysplastic changes of the nails are evident at this time Intraorally, the tongue and buccal mucosa develop bullae; these are followed by erosions and, eventually, leukoplakic lesions.

• The leukoplakic lesions are considered to be premalignant, and approximately one-third of them become malignant in a 10- to 30-year period.