Association of von Recklinghausen’s neurofibromatosis with adult polycystic disease of kidneys and liver

Abstract

A case of von Recklinghausen’s neurofibromatosis with adult polycystic disease of the kidneys and liver (APDK) is reported. Although neurofibromatosis and APDK have been reported in association with many hereditary disorders, their association together has rarely been described.

Neurofibromatosis, generalized pruritus and cholestatic liver dysfunction-report of two cases

“…Hepatic abnormalities are, likewise, not regarded as a feature of neurofibromatosis, although rarely extrahepatic cholestasis may occur as a consequence of obstruction or compression ofthe ampulla of Vater by a neurofibroma or related neurogenic tumour of the gastrointestinal tract (Barber, 1976;Meyer et al, 1982). Single cases have also been recorded of neurofibromatosis occurring in association with hepatoma (Ettinger & Freeman, 1979) and polycystic disease ofthe liver (Varma et al, 1982). The pigmentary changes of neurofibromatosis may also be seen in cases of naevoxanthoendothelioma (Marten & Sarkany, i960) a disorder in which visceral involvement, including hepatomegaly, is a well recognized if a rare feature (Diard et al, 1982); such a case was shown by the authors to the Section of Dermatology of the Royal Society of Medicine in January 1984.…”

Coexistence of Autosomal Dominant Polycystic Kidney Disease and Neurofibromatosis: Report of a Family

“…The kidneys develop from mesodermal tissue, and NF is purely of neuroectodermal origin. Because the dysplastic kidneys may have multiple cysts [12], these authors [4] postulated that the association of both diseases is due to mesodermal dysplasia in neurofibromatosis. However, the concurrence of both diseases in 3 members of a family cannot be explained by the hypothesis as Varma et al [4] postulated, because it is impossible for 3 members of a family to develop kidney dysplasia in NF simultaneously.…”

“…Varma et al [4] thought that the occurrence of these two disorders together could not be explained on the basis of linked gene loci because of the rarity of the association in spite of the relatively common incidence of both disorders in the general population. The kidneys develop from mesodermal tissue, and NF is purely of neuroectodermal origin.…”

“…Several authors [3][4][5] have reported the coexistence of polycystic kidney disease and NF. Varma et al [4] thought that the occurrence of these two disorders together could not be explained on the basis of linked gene loci because of the rarity of the association in spite of the relatively common incidence of both disorders in the general population.…”

“…However, concurrence of these two diseases is rare. To the best of our knowledge, only 3 cases [3][4][5] have been reported in the English literature. Herein, we report the presence of both diseases in a mother and her 2 sons.…”