Heredity in ophthalmology / Jules François.

  • François, J. (Jules)
Date:
1961
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Heredity in ophthalmology / Jules François. Source: Wellcome Collection.

    690/750 (page 680)
    680 GENERAL DISEASES WITH OCULAR MANIFESTATIONS observed the disease in a mother and her daughter (unpublished personal ob¬ servation) ; so that the possibility of dominance must be considered. It is certain, on the other hand, that the great majority of affected persons are of the female sex. In collecting the cases in the literature, Henderson (1950) found 94% women as compared to 6% men. In 121 patients at the Mayo Clinic, 104 were women, i.e., 86%. Falls (1953), on the other hand, has observed the affection in two sisters. These facts might suggest recessiveness limited to the female sex (Heuyer and collaborators, 1947). The Gougerot-Sjögren syndrome is allied to the Plummer-Vinson syndrome (atrophic gastritis with achylia and achlorhydria, inelastic skin with graying of the hair, alopecia, concave nails, smooth glossitis, and hypochromic anemia). But this latter malady is usually transmitted as a dominant condition (Gänssien, 1940; Waldenstrom, 1942), limited sometimes to the female sex (Lundholm, 1939), and sometimes as a recessive (De Groot, 1942). ESSENTIALLY NEUROECTODERMAL SYNDROMES Phakomatoses Van der Hoeve has studied the relationships that exist between four allied neuroophthalmocutaneous syndromes: Recklinghausen's neurofribromatosis, von Hippel-Lindau's cerebroretinal angiomatosis, Sturge-Weber-Krabbe's neurooculo- cutaneous angiomatosis, and Bourneville's tuberous sclerosis. He groups these maladies under the name of phakomatoses because they are all characterized by the presence of marks (^axos) which are often hereditary and familial, are localized in different regions of the body and on different organs, and are present from birth or appear subsequently. It must be admitted that the exact meaning of van der Hoeve's conceptions is slightly obscure. The majority of the cutaneous or nervous neoplasms of Bourne¬ ville's or Recklinghausen's disease is in no way related to the vascular malfor¬ mations of von Hippel-Lindau's angiomatosis or Sturge-Weber's disease, the one group being ectodermal and the other mesodermal in origin. Hence, it seems more logical to consider these different diseases as con¬ genital neuroectodermal dysplasias, as van Bogaert and Roger suggest. For even if it is true that the malformation may extend to mesodermal derivatives, the most apparent manifestations—those which underlie the clinical type— remain localized in the cutaneous covering and in the central or peripheral nerv¬ ous system, both derived from the primitive ectodermal layer. The designation, moreover, does not indicate the histologic nature of these malformations; it simply indicates the systematization of the lesions and their embryologie origin. Bourneville's Tuberous Sclerosis. Bourneville's disease, sometimes called epiloia, often appears in childhood, but sometimes only in adulthood. It is characterized by a triad of symptoms. 1. Epilepsy. 2. Sebaceous adenomas of the face (Fig. 608), which are present some¬ times at birth, usually making their appearance during childhood and more rarely as puberty approaches. They are small papular tumors which appear symmetrically in nasogenic furrows and from there spread round the nasal pyra-