Journal of Postgraduate Medicine Medknow Publications and Staff Society of Seth GS Medical College and KEM Hospital, Mumbai, India ISSN: 0022-3859 EISSN: 0972-2823 Vol. 48, Num. 4, 2002, pp. 274, 279

Journal of Postgraduate Medicine, Vol. 48, Issue 4, 2002 pp. 274, 279

Spot the Diagnosis

Recurrent Bleeding from the Tip of Index Finger and Mucocutaneous Telangiectases

A 60-year-old male came to us with recurrent bleeding from the tip of the right index finger just underneath the nail of two years duration. He had history of recurrent nose bleeding, first noticed around the age of 15 years. He had no history of induration of skin, Raynaud's phenomenon, sclerodactyly, malaena or seizures. No family member had similar complaints. On physical examination, this averagly built healthy looking individual was normotensive. Cutaneous examination revealed the presence of a soft black crust over the hyponychium of the right index finger, just under the free edge of the nail (Figure 1). Multiple dark red punctate and spider telangiectasia were seen over the palmar aspect of the fingers and around the nail fold. Similar blanchable telangiectasia were observed over the lips, tongue (Figure 2), oral cavity, nasal mucosa and genitalia. No other abnormalities were detected in the nails or hair. His systemic examination was unremarkable.

His haematological and biochemical parameters were within normal limits. Urine examination revealed the presence of microscopic haematuria. Skiagram of the chest and ultrasonographic study of the abdomen did not show any abnormality.

What is the diagnosis?

The diagnosis is Osler-Weber-Rendu syndrome.

Osler-Weber-Rendu syndrome, also known as hereditary haemorrhagic telangiectasia (HHT), is an autosomal dominant mucocutaneous and visceral fibrovascular dysplasia that is usually recognised as a "classic triad" of telangiectasia, recurrent epistaxis and a family history of the disorder.¹ Most patients with HHT report similarly affected relatives. However in 20% of cases, there is no family history of either telangiectasia or recurrent bleeding. Such cases could possibly be due to sporadic spontaneous mutation. This disorder occurs in all races with an estimated frequency of one or two per 100,000. The vascular dysplasia of HHT is localised to discrete segments of vessels ranging in caliber from capillaries to large arteries and veins. It results in three forms of dysplasia-telangiectasia, arteriovenous malformations and aneurysms. The characteristic lesion of this syndrome is the macular telangiectasia, a punctiform spot, 1 to 3 mm in diameter, most commonly over the face, followed by lips, nares, tongue, ears, hands, chest and feet, often increasing in size and number with age. Ninety five percent of patients have had nosebleeds by 20 years. Visible telangiectasia appear on the skin and mucous membrane 5 to 20 years after epistaxis begins and the disease usually declares itself by the age of 40 years. Gastrointestinal bleeding develops in the 4^th to 5^th decade.² Other features include pulmonary arteriovenous fistulas (clinically manifesting as clubbing, cyanosis and polycythaemia), retinal telangiectasia, hepatic fibrotic arteriovenous malformations, central nervous system aneurysms, arteriovenous malformations, and telangiectases.³ Epistaxis and malaena are the frequent complications of HHT due to telangiectasia in the gastrointestinal tract and nasal mucosa. Other syndromes with telangiectasia include systemic scleroderma (CREST syndrome), generalised essential telangiectasia (occurs in women in their 4^th and 5^th decades, begins on the legs and slowly involves thighs and lower abdomen) and ataxia telangiectasia (presents as cerebellar ataxia in children shortly after they begin to walk).^1,4 Our case had telangiectasia, epistaxis, and haematuria, and thus represents a typical example of Osler- Weber- Rendu syndrome.

Laxmisha C, Thappa DM

Department of Dermatology and STD, Jawaharlal Institute of Postgraduate Medical Education and Research,

Pondicherry - 605006, India. E-mail: dmthappa@satyam.net.in

References

1. Peery WH. Clinical spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu disease). Am J Med 1987; 82:989-97.
2. Braverman IM. Skin Signs of Systemic Disease. 3^rd edn., Philadelphia: WB Saunders; 1998. pp.384-403.
3. Jones KL. Smith's Recognizable Patterns of Human Malformations, 5^th edn., Philadelphia: WB Saunders; 1997. pp. 524-5.
4. Grevelink SV, Mulliken JB. Vascular anomalies. In: Freedberg IM, Essen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, Fitzpatrick TB, editors. Fitzpatrick's Dermatology in General Medicine, 5^th edn., New York: McGraw Hill Publication; 1999. pp. 1175-94.

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