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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

Family history and symptoms1A: Family pedigree revealing autosomal dominant pattern; 1B: Telangiectasia on the tongue; 1C: Telangiectasia in the fingers; 1D: CXR –cardiomegaly and bilateral lower-zone haziness
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FIG1: Family history and symptoms1A: Family pedigree revealing autosomal dominant pattern; 1B: Telangiectasia on the tongue; 1C: Telangiectasia in the fingers; 1D: CXR –cardiomegaly and bilateral lower-zone haziness

Mentions: Family history revealed epistaxis among first-degree relatives (Figure 1A). Her mother had died at 37 years following a bout of hematemesis. On examination, severe pallor, glossitis, and elevated jugular venous pressure were seen. Telangiectasias were observed on the fingers, tongue, and buccal mucosa (Figures 1B-1C). Auscultation revealed a loud P2, an ejection systolic murmur, and bilateral end-inspiratory Velcro crepitations. The rest of the systemic examination was non-contributory.


Hereditary Hemorrhagic Telangiectasia with Unusual Associations.

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

Family history and symptoms1A: Family pedigree revealing autosomal dominant pattern; 1B: Telangiectasia on the tongue; 1C: Telangiectasia in the fingers; 1D: CXR –cardiomegaly and bilateral lower-zone haziness
© Copyright Policy - open-access
Related In: Results  -  Collection

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

FIG1: Family history and symptoms1A: Family pedigree revealing autosomal dominant pattern; 1B: Telangiectasia on the tongue; 1C: Telangiectasia in the fingers; 1D: CXR –cardiomegaly and bilateral lower-zone haziness
Mentions: Family history revealed epistaxis among first-degree relatives (Figure 1A). Her mother had died at 37 years following a bout of hematemesis. On examination, severe pallor, glossitis, and elevated jugular venous pressure were seen. Telangiectasias were observed on the fingers, tongue, and buccal mucosa (Figures 1B-1C). Auscultation revealed a loud P2, an ejection systolic murmur, and bilateral end-inspiratory Velcro crepitations. The rest of the systemic examination was non-contributory.

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