Familial leiomyomatosis cutis affecting nine family members in two successive generations including four cases of Reed′s syndrome

Trisomy 21 mosaicism in two successive generations in a family.

The occurrence of 46,XX/47,XX,+21 mosaicism in two successive generations implies an aetiological relationship between the 47,XX,+21 cell line of the mother and her daughter.

Marfan syndrome affecting four generations of a family without ocular involvement.

Thirty eight relatives of a patient with Marfan syndrome were screened for the presence of this disorder. Marfan syndrome was newly diagnosed in living members of 4 generations in this family without evidence of ocular abnormality in any. After screening, 10 relatives were newly diagnosed as having definite, and 5 relatives as having possible, Marfan syndrome. Family screening has drawbacks as ...

Familial Lichen Planus: Report of 4 cases in a family

Although lichen planus is a fairly common disorder, its familial occurrence is uncommon and varies between 1.5 and 10.7%. In most reports, only two or three members of the family have had disease but occasionally more family members may be affected. We present a case of lichen planus, whose father, mother, and maternal aunt also had this disease.

REPORT OF FOUR CASES OF FAMILIAL IDIOPATHIC PULMONARY FIBROSIS

A 25 year old male and his 46 year old aunt presented with shortness of breath and a dramatic response to steroids. The other two patients are sisters with more advanced disease. One of these responded partially to steroids, while the other died within 4 months of treatment. The genetic basis and pathogenesis are discussed.

Familial leiomyomatosis