Open AccessA case of dyskeratosis congenita with primary amenorrhea and adenocarcinoma of stomach
Author(s) -
N.B. Chakrabarti,
Nilendu Sarma,
Chandan Chattopadhyay,
Atanu Roy Chowdhuri,
Chhanda Das,
Sankar K. Pal
Publication year - 2011
Publication title -
indian journal of dermatology/indian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.395
H-Index - 36
eISSN - 1998-3611
pISSN - 0019-5154
DOI - 10.4103/0019-5154.87167
Subject(s) - dyskeratosis congenita , medicine , wasting , hyperpigmentation , amenorrhea , dermatology , primary amenorrhea , stomach , pathology , pregnancy , dna , genetics , telomere , biology
Dyskeratosis congenita (DC) is a rare disease characterized by hyperpigmentation, nail dystrophy and mucous membrane abnormality. Commonly occurring in males, the patients die young usually due to bone marrow suppression. Malignancies of various descriptions have been reported in this disease, the commonest being solid tumors of head/neck (squamous cell carcinoma). We report the case of a female patient with DC, who presented to us with severe wasting and primary amenorrhea and died of carcinoma stomach in our hospital 3 weeks later.