Dyskeratosis Congenita and Associated Interstitial Lung Disease: A Case Report

Vanbiervliet, Peter; Blockmans, Daniel Engelbert; Bobbaers, Herman

doi:10.1080/17843286.1998.11754164

Cited by 8 publications

(4 citation statements)

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“…Whenever available, biopsy or post-mortem histopathological investigations of lung tissue have revealed the common occurrence of interstitial fibrosis. In the patient described here, as well as in two other cases,15 16 the interstitial fibrosis was found to be similar to that of UIP. Others have concluded that the risk of restrictive pulmonary disease of unknown aetiology is increased in patients with DC 13.…”

Section: Discussionsupporting

confidence: 80%

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X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation

Safa

2001

Thorax

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Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients. The gene for the X-linked form of DC has been identified on Xq28 and designated as DKC1. Pulmonary manifestations have rarely been reported. It is not known whether there is a respiratory disease peculiar to these patients and, if so, whether it is associated with a specific genetic mutation. A 40 year old Egyptian man with pulmonary disease and his symptom free 35 year old brother both presented with mucocutaneous lesions characteristic of DC. In the older brother chest imaging revealed generalised intralobular interstitial thickening and honeycombing. Pulmonary function tests showed a restrictive pattern. Open lung biopsy specimens of lung tissue showed various degrees of fibrosis consistent with usual interstitial pneumonia of chronic idiopathic pulmonary fibrosis. The younger brother was free of pulmonary lesions. Both had a novel missense mutation 5C→T in exon 1 of the DKC1 gene. It is concluded that pulmonary disease in DC may be underestimated, possibly because most patients die at an early age of bone marrow failure. No relationship between genotype and phenotype could be established in the patients studied. The genetic diagnosis of DC is now available, which may enable it to be diagnosed in patients with restrictive pulmonary disease and minimal cutaneous signs. (Thorax 2001;56:891-894)

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Section: Discussionsupporting

confidence: 80%

“…Since 1995 patients have been reported in the DC registry established at the Hammersmith Hospital. London6; one additional case was reported in 1998 and is not included in the registry 16. Both patients described here are included in the registry.…”

Section: Discussionmentioning

confidence: 99%

X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation

Safa

2001

Thorax

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“…They occur in 20% of patients, mainly adults with pulmonary fibrosis and lung biopsy showing usual interstitial pneumonitis (UIP). [4][5][6][7][8] Interstitial lung fibrosis was also described in children with DKC after bone marrow transplantation. 9 However, pulmonary disease in DKC may be underestimated because most patients die at an early age from bone marrow failure.…”

Section: Discussionmentioning

confidence: 99%

Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita

Renoux

Mazars

Tichit

et al. 2009

Pediatric Pulmonology

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“…1 Autopsy or surgical lung biopsy findings have been described in only 8 patients reported previously in the English language literature (Table 1). 5,[11][12][13][14][15][16] Usual interstitial pneumonia was described in surgical lung biopsy specimens from 3 of these patients, none of whom had undergone BMT. [11][12][13] With the addition of our 2 patients, UIP was present in 5 of 7 patients who underwent surgical lung biopsy.…”

Section: Discussionmentioning

confidence: 99%

Usual Interstitial Pneumonia Complicating Dyskeratosis Congenita

Utz

Ryu

Michels³

2005

Mayo Clinic Proceedings

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Dyskeratosis Congenita and Associated Interstitial Lung Disease: A Case Report

Abstract: We describe a male patient with dyskeratosis congenita who, in addition to the classic triad, also suffers from usual interstitial pneumonia. He was treated with methyl-prednisolone but it is not clear whether this had an influence on the course of the disease.

Cited by 8 publications

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X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation

X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation

Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita

Usual Interstitial Pneumonia Complicating Dyskeratosis Congenita

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