Dyskeratosis Congenita Management and Review of Complications : A CaseReport

Shivam Sinha; Vikas Trivedi; Arvind Krishna; Nidhi Rao

doi:10.5001/omj.2013.78

Article Details

Dyskeratosis Congenita Management and Review of Complications : A CaseReport

Authors:

Shivam Sinha | Vikas Trivedi | Arvind Krishna | Nidhi Rao

Publisher:

Oman Medical Specialty Board

Main Topics:

Medicine

Journal:

Oman Medical Journal 2013 vol.28 Issue 4, pp.281-284

Document Type:

Article

Publication Date:

7/2013

Document Language:

English

Document ID (Org No.):

31632

Frequency:

Bi-Monthly

eISSN:

20705204

pISSN:

1999768X

DOI:

10.5001/omj.2013.78

Descriptors:

Keywords:

Abstract:

 Among the inherited bone marrow failure disorders, dyskeratosiscongenita is an X-linked inherited disorder arising as a consequenceof short telomere and mutations in telomere biology. Production of the altered protein dyskerin, leads to vulnerable skin, nails, andteeth which lead to higher permeability for noxious agents whichcan induce carcinogenesis accounting for the classical triad of skin pigmentation, nail dystrophy and oral leukoplakia. This condition is fatal and patients succumb to aplatic anemia, malignancy orimmunocompromised state. We present a young male with theclassic 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 thepatient sufferingfrom this disorder. This patient is under our meticulous follow-up for the last 2 years in order to determine any late development ofcomplications before being labelled as a variant of this syndrome.

Article Details

Dyskeratosis Congenita Management and Review of Complications : A CaseReport

Authors:

Shivam Sinha | Vikas Trivedi | Arvind Krishna | Nidhi Rao

Publisher:

Oman Medical Specialty Board

Main Topics:

Medicine

Journal:

Oman Medical Journal 2013 vol.28 Issue 4, pp.281-284

Document Type:

Article

Publication Date:

7/2013

Document Language:

English

Document ID (Org No.):

31632

Frequency:

Bi-Monthly

eISSN:

20705204

pISSN:

1999768X

DOI:

10.5001/omj.2013.78

Descriptors:

DYSKERATOSIS

HEREDITARY DISEASES

HAEMOGLOBIN

BLOOD DISEASES

DIAGNOSIS

PATIENTS

Dyskeratosis congenita

Osteonecrosis

Leukoplakia

Dyskerin

Inherited bone marrow failure syndrome

Issues

Article Details

Authors: Shivam Sinha | Vikas Trivedi | Arvind Krishna | Nidhi Rao

Publisher: Oman Medical Specialty Board

Main Topics: Medicine

Journal: Oman Medical Journal 2013 vol.28 Issue 4, pp.281-284

Document Type: Article

Publication Date: 7/2013

Document Language: English

Document ID (Org No.): 31632

Frequency: Bi-Monthly

eISSN: 20705204

pISSN: 1999768X

DOI: 10.5001/omj.2013.78

Descriptors:

Issues

Authors:

Shivam Sinha | Vikas Trivedi | Arvind Krishna | Nidhi Rao

Publisher:

Oman Medical Specialty Board

Main Topics:

Medicine

Journal:

Oman Medical Journal 2013 vol.28 Issue 4, pp.281-284

Document Type:

Article

Publication Date:

7/2013

Document Language:

English

Document ID (Org No.):

31632

Frequency:

Bi-Monthly

eISSN:

20705204

pISSN:

1999768X

DOI:

10.5001/omj.2013.78