Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease

Arch Dermatol. 1985 Nov;121(11):1424-8.


Dyskeratosis congenita (DCG) is a rare genodermatosis characterized primarily by reticular hyperpigmentation of the skin, dystrophy of the nails, and leukoplakia. It is frequently associated with Fanconi-type pancytopenia. Although DCG has a male predisposition, it has been reported in several female patients. We encountered a case of DCG occurring in a girl whose clinical features simulated chronic graft-vs-host disease (GVHD). Because DCG and chronic GVHD share several clinical and histologic features, physicians should always examine a patient for possible DCG whenever a diagnosis of chronic GVHD is considered. In addition, the similar manifestations of the two disorders suggest a similar pathogenesis on a cellular level in the immunologic system.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bone Marrow Transplantation
  • Diagnosis, Differential
  • Female
  • Graft vs Host Disease / diagnosis*
  • Graft vs Host Disease / pathology
  • Humans
  • Nail Diseases / congenital
  • Nail Diseases / diagnosis
  • Nail Diseases / pathology
  • Pigmentation Disorders / congenital
  • Pigmentation Disorders / diagnosis*
  • Pigmentation Disorders / pathology
  • Skin Diseases / congenital
  • Skin Diseases / diagnosis*
  • Skin Diseases / pathology