Dominantly inherited glomerulonephritis and an unusual skin disease.

Abstract

SUMMARY An unusual association of uncommon facies including telangiectasia in a butterfly distribution, a similar skin lesion on extensor areas, sparse hair, and membranoproliferative glomerulonephritis is described in a 4 year old boy and his father. The mode of inheritance of these features seems to be autosomal dominant.A family is described in which the father and his only son have an unusual association of anomalies. These comprise facial telangiectasia in a pattern not described in other syndromes; telangiectasia of some extensor surfaces; sparse hair, eyebrows, and eyelashes; and membranoproliferative glomerulonephritis. These features seem to be inherited in an autosomal dominant fashion, and after an exhaustive search we can find no evidence that this association has been previously described. Case reportA 4 year old boy admitted for tonsillectomy and adenoidectomy was found on routine urine testing to have mild proteinuria and microscopic haematuria. There had been no frank haematuria but on two occasions his urine had been pink. He had no dysuria. Two months previously he had had several undiagnosed febrile illnesses. An audiogram performed four months earlier was normal.He was born at term by caesarean section following a normal pregnancy, and weighed 3200 g. A pyloromyotomy had been performed for pyloric

Membranoproliferative glomerulonephritis in a girl and her mother

“…As for modes of inheritance of familial MPGN, X-linked dominant [5] and recessive [9,12], and autosomal dominant [2,3,5] and recessive [8], have been suspected. X-linked recessive gene was suspected in two Japanese sibling cases [9], but our cases were different from them.…”

“…Familial occurrence suggests a genetic background. A child and one parent with MPGN have been reported in four families [1][2][3][4], and MPGN of the parent has been proven by renal biopsy in only two families [1,2]. The combination of MPGN in a girl and her mother has not previously been reported.…”

“…Familial cases of membranoproliferative glomerulonephritis (MPGN) type I or III have been reported in 18 families [1][2][3][4][5][6][7][8][9][10][11][12]. Familial occurrence suggests a genetic background.…”

Hereditary Benign Telangiectasia

“…We emphasize the fact that 2 family mem bers had coxarthrosis as well. The coexistence of familial glomerulonephritis and benign cutaneous telangiectasia has been published [13], We suggest that benign cutaneous telangiectatic conditions may be associated with other mesodermal lesions, thus careful clinical observation is advised.…”

Cutaneous telangiectasias, sparse hair, and type I membranoproliferative glomerulonephritis

“…Sherwood et al [1] and Proesmans et al [2] have each described the unusual association of normocomplementemic membranoproliferative glomerulonephritis (MPGN) with skin and hair abnormalities. We report the third patient with these findings suggestive of a distinct form of ectodermal dysplasia and propose that this patient shows striking similarities with the child described by Proesmans et al [2].…”