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Hereditary Hemorrhagic Telangiectasia with Unusual Associations.

Jain D, Viswanathan S, Ramasamy C - Cureus (2015)

Bottom Line: We describe a report of an elderly lady who was hospitalized with progressive worsening of breathlessness and fatigue of one month's duration.Clinical evaluation of the patient revealed hereditary hemorrhagic telangiectasia, interstitial lung disease, pulmonary hypertension without left heart failure, and bilateral gluteal calcinosis cutis.Initially, CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome was considered in view of the telangiectasia and calcinosis cutis, but a strong autosomal inheritance pattern and endoscopies (nasal and upper gastrointestinal) favored a diagnosis of hereditary hemorrhagic telangiectasia with rare associations.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of General Medicine, Indira Gandhi Medical College & Research Institute.

ABSTRACT
We describe a report of an elderly lady who was hospitalized with progressive worsening of breathlessness and fatigue of one month's duration. Clinical evaluation of the patient revealed hereditary hemorrhagic telangiectasia, interstitial lung disease, pulmonary hypertension without left heart failure, and bilateral gluteal calcinosis cutis. Initially, CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome was considered in view of the telangiectasia and calcinosis cutis, but a strong autosomal inheritance pattern and endoscopies (nasal and upper gastrointestinal) favored a diagnosis of hereditary hemorrhagic telangiectasia with rare associations.

No MeSH data available.


Related in: MedlinePlus

Investigations2A: Telangiectasia in the gastric mucosa; 2B: CT abdomen revealed bilateral gluteal skin; 2C-2D: CT thorax - bilateral ground-glass appearance suggestive of interstitial lung disease
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FIG2: Investigations2A: Telangiectasia in the gastric mucosa; 2B: CT abdomen revealed bilateral gluteal skin; 2C-2D: CT thorax - bilateral ground-glass appearance suggestive of interstitial lung disease

Mentions: Investigations revealed a hemoglobin of 4.8 g/dl with a microcytic hypochromic blood picture, normal renal and liver function tests, negative stool for occult blood, cardiomegaly on chest radiography (Figure 1D), right atrial and ventricular enlargement on echocardiography with a RVSP of 55 mmHg, and esophageal and stomach telangiectasias on esophagogastroscopy (Figure 2A). Thoracic and abdominal computed tomography did not reveal any AV malformations; ground-glassing in both the lower lung lobes and bilateral gluteal skin calcifications (Figures 2B-2D) were found.   


Hereditary Hemorrhagic Telangiectasia with Unusual Associations.

Jain D, Viswanathan S, Ramasamy C - Cureus (2015)

Investigations2A: Telangiectasia in the gastric mucosa; 2B: CT abdomen revealed bilateral gluteal skin; 2C-2D: CT thorax - bilateral ground-glass appearance suggestive of interstitial lung disease
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4494561&req=5

FIG2: Investigations2A: Telangiectasia in the gastric mucosa; 2B: CT abdomen revealed bilateral gluteal skin; 2C-2D: CT thorax - bilateral ground-glass appearance suggestive of interstitial lung disease
Mentions: Investigations revealed a hemoglobin of 4.8 g/dl with a microcytic hypochromic blood picture, normal renal and liver function tests, negative stool for occult blood, cardiomegaly on chest radiography (Figure 1D), right atrial and ventricular enlargement on echocardiography with a RVSP of 55 mmHg, and esophageal and stomach telangiectasias on esophagogastroscopy (Figure 2A). Thoracic and abdominal computed tomography did not reveal any AV malformations; ground-glassing in both the lower lung lobes and bilateral gluteal skin calcifications (Figures 2B-2D) were found.   

Bottom Line: We describe a report of an elderly lady who was hospitalized with progressive worsening of breathlessness and fatigue of one month's duration.Clinical evaluation of the patient revealed hereditary hemorrhagic telangiectasia, interstitial lung disease, pulmonary hypertension without left heart failure, and bilateral gluteal calcinosis cutis.Initially, CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome was considered in view of the telangiectasia and calcinosis cutis, but a strong autosomal inheritance pattern and endoscopies (nasal and upper gastrointestinal) favored a diagnosis of hereditary hemorrhagic telangiectasia with rare associations.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of General Medicine, Indira Gandhi Medical College & Research Institute.

ABSTRACT
We describe a report of an elderly lady who was hospitalized with progressive worsening of breathlessness and fatigue of one month's duration. Clinical evaluation of the patient revealed hereditary hemorrhagic telangiectasia, interstitial lung disease, pulmonary hypertension without left heart failure, and bilateral gluteal calcinosis cutis. Initially, CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome was considered in view of the telangiectasia and calcinosis cutis, but a strong autosomal inheritance pattern and endoscopies (nasal and upper gastrointestinal) favored a diagnosis of hereditary hemorrhagic telangiectasia with rare associations.

No MeSH data available.


Related in: MedlinePlus