title: Dyskeratosis congenita- management and review of complications: a case report.
abstract: Among the inherited bone marrow failure disorders, dyskeratosis congenita is an X-linked inherited disorder arising as a consequence of short telomere and mutations in telomere biology. Production of the altered protein dyskerin, leads to vulnerable skin, nails, and teeth which lead to higher permeability for noxious agents which can induce carcinogenesis accounting for the classical triad of skin pigmentation, nail dystrophy and oral leukoplakia. This condition is fatal and patients succumb to aplastic anemia, malignancy or immunocompromised state. We present a young male with the classic clinical triad and avascular necrosis of both femoral heads, with no evidence of hematologic anomaly or any malignancy. He was managed for osteonecrosis with uncemented total hip arthroplasty for the symptomatic left hip. Our case represents a benign form of such a fatal and rare condition, which if detected and managed early can result in improved quality of life for the patient suffering from this disorder. This patient is under our meticulous follow-up for the last 2 years in order to determine any late development of complications before being labelled as a variant of this syndrome.
authors.affiliation: Assistant Professor, Department of Orthopedics, Subharti Medical College NH-58, Delhi Haridwar Byepass, Subhartipuram, Meerut-250002, UP, India.
authors.forename: Shivam
authors.initials: S
authors.lastname: Sinha
authors.forename: Vikas
authors.initials: V
authors.lastname: Trivedi
authors.forename: Arvind
authors.initials: A
authors.lastname: Krishna
authors.forename: Nidhi
authors.initials: N
authors.lastname: Rao
keywords: Dyskeratosis congenita; Dyskerin; Inherited bone marrow failure syndrome; Leukoplakia; Osteonecrosis
references.citation: J Oral Pathol Med. 1991 Apr;20(4):196-9
references.pmid: 2061860
references.citation: J Oral Pathol Med. 1992 Jul;21(6):280-4
references.pmid: 1501159
references.citation: Pediatrics. 1983 Apr;71(4):603-9
references.pmid: 6601257
references.citation: Eur J Pediatr. 2003 Dec;162(12):863-7
references.pmid: 14648217
references.citation: J Oral Maxillofac Surg. 1999 Sep;57(9):1138-41
references.pmid: 10484119
references.citation: Curr Opin Pediatr. 2004 Feb;16(1):23-8
references.pmid: 14758110
references.citation: Oman Med J. 2012 Sep;27(5):348-57
references.pmid: 23074543
references.citation: J Med Genet. 1992 Sep;29(9):673-5
references.pmid: 1404302
references.citation: Am J Med Genet. 1994 Feb 15;49(4):374-7
references.pmid: 8160728
references.citation: Blood. 2006 Apr 1;107(7):2680-5
references.pmid: 16332973
references.citation: Oral Surg Oral Med Oral Pathol. 1988 May;65(5):586-91
references.pmid: 3287258
references.citation: Am J Pediatr Hematol Oncol. 1992 Nov;14(4):297-304
references.pmid: 1456394
references.citation: J Nippon Med Sch. 2007 Jun;74(3):202-9
references.pmid: 17625368
references.citation: Pediatrics. 1981 Jun;67(6):898-903
references.pmid: 6894487
references.citation: Int J Hematol. 2005 Oct;82(3):184-9
references.pmid: 16207588