Hereditary multiple expostosis; four cases in the same family.

Hereditary Angioedema: Three Cases Report, Members of the Same Family

BACKGROUND This current clinical case report highlights three cases of Hereditary angioedema (HAE) patients who are all members of the same family (father and his two daughters). The father has C1-INH deficiency, while his daughters have low C1-INH levels: the first possesses only 10% function and the second has low C1-INH level with 0% function. Of note, the second daughter was discovered to h...

Hereditary benign Telangiectasia: Report of 6 cases in a family

Hereditary benign telangiectasia is an uncommon idiopathic skin disorder characterized by generalized telangiectases and angiomatous lesions of the skin. The diagnosis should be suspected in patients with such cutaneous lesions, positive family history, no associated bleeding problems, and no mucosal involvement. We present six cases of hereditary benign telangiectasia in three generations of o...

Four cases of Muckle-Wells syndrome within the same family.

Muckle-Wells syndrome is a rare autosomal dominant disease that belongs to a group of hereditary febrile syndromes. It is characterized by recurrent and self-limited episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis since childhood, which are related to exposure to cold temperatures. Lately, progressive sensorineural hearing loss occurs. Amyloidosis is the main complication a...

Indeterminate leprosy and lepromatous index case: four cases in the same family*

Leprosy is a chronic infectious disease caused by Mycobacterium leprae, which primarily affects the skin and peripheral nerves. Brazil remains as the country with the second largest number of cases in the world. We report the case of three patients diagnosed with indeterminate leprosy in the same family. Two patients were HIV positive. An active search led to the discovery of the index case. It...

Hereditary spastic ataxia with congenital miosis: four cases in one family.