Case report: gastric carcinoma as a complication of dyskeratosis congenita in an adolescent boy.
Dyskeratosis congenita (DC), or the Zinsser-Engman-Cole syndrome, is a rare X-linked heritable disorder, affecting primarily the ectodermal tissues, with hyperpigmentation of the skin, leukoplakia of the buccal and anal mucosa, and nail dystrophy (1, 2). Aplastic anemia (3) and a variety of neoplasms (4, 5) are some of the extraectodermal manifestation of this disorder, which although X-linked recessive, has also been described in a few females (6, 7). Mental retardation, diarrhea, and gastrointestinal bleeding have been considered to be less frequent features (8). We report an adolescent Indian male who presented with all the ectodermal manifestations, as well as mental retardation, bone marrow aplasia, and gastrointestinal hemorrhage secondary to adenocarcinoma of the stomach.
Chatura
K R
KR
Department of Gastrointestinal Sciences, Christian Medical College & Hospital, Vellore, India.
Nadar
S
S
Pulimood
S
S
Mathai
D
D
Mathan
M M
MM
D000230:Adenocarcinoma / Q000209:etiology*; D000293:Adolescent; D006801:Humans; D008607:Intellectual Disability; D007642:Keratosis; D008297:Male; D009260:Nail Diseases; D010198:Pancytopenia; D010859:Pigmentation Disorders; D013274:Stomach Neoplasms / Q000209:etiology*; D013276:Stomach Ulcer; D013577:Syndrome