From Big Medical Encyclopedia

FAKOMATOZY (phacomatosis, singular; Greek phakos lentil, a birthmark + - oma + - osis) — nasledst-

the wine, progressing diseases which are characterized by the combined damage of skin, an eye, a nervous system and internals.

The term «fakomatoza» was introduced in 1923 by J. van der Hoeve for the first time, to-ry suggested to combine in one group inborn and hereditary diseases with the changes of skin in the form of giperpigmen-tirovanny and gipopigmentirovan-ny spots, angiomas, neurofibromas which are combined with damage of eyes, a nervous system and is frequent — internals.

K F. with defeat of a nervous system in a crust, time carry an entsefa-lotrigeminalny angiomatosis of Sterd-zha — Weber — Krabbe — Dimitri (see the Entsefalotrigeminalny angiomatosis), a tserebroretinovistseralny angiomatosis of Gippel — Lindau (see Gippel — Lindau a disease), Louis Bar ataxy teleangiectasia (see the Ataxy), a gemangiektaziya hypertrophic Klippelya — Trenone (see Blood vessels), a tuberous sclerosis of Burnevill — Pringla (see. Tuberous sclerosis), a neurofibromatosis of Recklinghausen (see the Neurofibromatosis), retino-optiko-mezentsefalny an angiomatosis — Bonnet's syndrome — De-shoma — Blana, kortiko-meningeal-ny a diffusion angiomatosis of Van-Bogart — Divri and the nek-ry other forms which are found very seldom.

T. develop at early children's age, sometimes are found at the birth.

In development F. the big role belongs to genetic factors; often family forms of a disease meet, to-rye are traced in several generations. Are inherited by F. generally on autosomal dominantly, is more rare — on autosomal recessively type with incomplete penetrance of a mutant gene (see the Gene). Penetrance of a gene (see) at nek-ry F. reaches 75 — 90%. A twin method (see) researches finds high concordance of systemic lesions of skin of eyes and a nervous system in monozygotic twins.

Assume that at the heart of the diseases making group F., genetically caused disturbances of development of formative cells leading to ektome-zodermalny displaziya with formation of angiomas, teleangiectasias, neurofibromas on skin and in various parts of the nervous system — a brain, a brainstem, a cerebellum, a spinal cord, peripheral nerves, and also aneurysmal angiomas of a retina of an eye, etc. lie. At nek-ry forms F. (e.g., an ataxy-teleangiekta-ziya) find a congenital immunodeficiency disorder (see. Immunological insufficiency) with raised ri-

sky developing of malignant tumors and a syndrome of a senilism. These forms carry to the diseases connected with disturbance of DNA repair.

Morfol. changes depend on a form F. Along with inherent to different forms F. morfol. components — angiomas, angioretikulema-m, aneurisms, arteriovenous malformation, tuberoznt educations, neurofibromas, cystous educations, petrifikata in a meninx, a head and spinal cord — are found hydrocephaly (see) with expansion of ventricles of a brain, an atrophy of various departments of a brain and cerebellum, demyelination, a gliosis, quite often various malformations of a brain and eyes, pathology of internals (a cyst of a kidney, a pancreas, etc.).

Defeat of a nervous system is shown first of all by epileptic seizures (see Epilepsy). There are partial or generalized epileptic seizures (is more often than the mixed type). Generalized big convulsive attacks (tonic or kloniko-tonic) usually are followed by a loss of consciousness, partial proceed without loss of consciousness in the form of the motor, touch or combined jacksonian attacks more often. The convulsive attacks in the beginning proceeding as partial, can be transformed further to generalized big. The periods of the epileptic status are quite often observed. Early symptoms are also lag of mental development and development of the speech, a behavior disorder. Decrease in intelligence reaches degree of a deficiency of intellect and an idiocy (see Oligophrenias). There is an accurate correlation between extent of intellectual degradation, weight and frequency of development of the epileptic status. At inspection reveal symptoms of defeat of cranial nerves (more often oculomotor, front), pyramidal symptoms (a hemiparesis, a hemiplegia), zkstrapiramidny disturbances (hyperkinesias, an athetosis, are more rare — parkinsonism with a hypokinesia, an oligokinesia, a sconce a dikinesia, change of a muscle tone), cerebellar frustration (an ataxy, an in-tentsionny tremor, a nystagmus). Along with it there can be hypothalamic vegetative and trophic frustration (a xeroderma, a Crocq's disease, fragility of nails, a hair loss), endocrine and exchange disturbances (obesity, premature or, on the contrary, the slowed-down puberty, hyper - or a hypothyroidism, not diabetes mellitus, etc.).

Damages of skin are noted already at the birth or in the first months of life. On face skin, trunks, extremities are found angiomas (see the Angioma), angiofibromas (see), teleangiectasias (see), single or multiple, various on color, size, prevalence. Along with it on skin «coffee with milk» colors sites of hypopigmentation are observed. Damages of skin can cover one half of a body or to be diffusion, to be combined with cavernous angiomas on mucous membranes (see the Entsefalotri-geminaljny angiomatosis), with adenomas of sebaceous glands (see). Correlations between skin manifestations F. and by defeat of a nervous system it is not observed. It is quite often tended to progressing and a malignancy patol. educations on skin. At patients with F. dizembriogenetichesky changes of bone and vascular systems are often noted. Characteristic of the separate nosological forms entering into group F., changes of eyes happen inborn or develop in the first years of life of the child. On an eyeground reveal a limited or diffusion angiomatosis, ampuloobrazny vasodilatations (see Gippel — Lindau a disease), opukholepodobny hilly yellow educations on the periphery of an eyeground or in the field of an optic disk (see. Tuberous sclerosis). Along with it on a conjunctiva of scleras teleangiectasias of bright red color can be observed. Progressing patol. changes of eyes leads to decrease in sight or a blindness.

Current F. progressing. Gradually weight of the central paresis, epileptic attacks, mental disturbances increases. Especially quickly psychological, speech frustration in the pubertal period progress. Latentno the proceeding, compensated forms F. at influence of adverse environmental factors, at inf. diseases, injuries can turn into clinically expressed and quickly progressing process.

The diagnosis is made on the basis a wedge. pictures — combinations of epileptic seizures of polymorphic character, lag of intellectual development, an arrest of development of motive and speech functions to characteristic changes of skin (existence of spots with the changed pigmentation, angiomas, neurofibromas on a face, extremities, a trunk), specific changes on an eyeground, focal neurologic symptoms. In early diagnosis an important role is played by data rentgenol. researches of a skull. At a kraniografiya (see) find petrifikata in various structures of a brain; by means of a pneumoencephalography (see) reveal increase in cerebral cavities, symptoms of intracranial hypertensia (see Hydrocephaly); the computer tomography (see the Tomography computer) allows to diagnose angiomas, neurofibromas, cystous and opukholepodobny educations, an atrophy of a brain. At an elektroentsefalo-graphic research find focal or diffusion changes of bioelectric activity of epileptic character (see Elektroentsefalograf) iya). Cerebrospinal liquid is usually not changed.

Differential diagnosis is carried out with malformations of c. N of page, unlike to-rykh at F. there is a progressing of process with increase of psychological frustration.

Symptomatic treatment. Appoint the anticonvulsant, dehydrating drugs, means improving trophic functions and metabolism (amino acids, vitamins), etc. At single superficial angiomas of a meninx apply radiation therapy (see), carry out surgical treatment less often. At the isolated angiomas of skin use a cryosurgery (see), surgical treatment, at angioretikulema of a retina of eyes — treatment by means of the laser (see), etc.

Forecast adverse. The negative factor which is complicating disease and quite often leading to death of patients are inf. diseases, injuries. Can lead hypostasis and swelling of a brain to death (see) at the epileptic status. At nek-ry forms F. the outcome of a disease is connected with development of a malignant tumor.

Preventive value has medicogenetic consultation, at Krom recommend restriction of a child-bearing in families with the established cases of fakoma-toz (see. Medicogenetic consultation).

Bibliogr.; Badalyan L. O., T and au lean V. A. and Veltishchev Yu. V. Hereditary diseases at children, page 312, M., 1971; Differential diagnosis of skin diseases, under the editorship of. A. A. Studni-tsina, page 450, M., 1983; Guelder-roses and -

on L. V. and Gusev E. I. Hereditary diseases of metabolism and a fakomato-za with defeat of a nervous system, M., 1981; 6 u n d 1 and with

h P. u. Ster n J. Das multilokulare Hamangioblastom mit zerebellarer und spinaler Beteiligung ais Manifestationsform des inkompletten von Hippel — Lindau — Syndroms, Neurochi-rurgia (Stuttg.), Bd 25, S. 124, 1982;

Kingsley D. P. E. C.A.T. in the phakomatoses, in book: The first European seminar on computerized axial tomography in clinical practice, ed. by G. H. du Bou-lay a * I, F. Moseley, p. 174, V. o.t of 1977; Person J. R. and. R e of at N. O. of Recent advances in the phakomatoses, Int. J. Derm., v. 17, p. 1, 1978; R i 1 e y F. C. a. Campbell R. J. Double phako-matosis, Arch. Ophthal., v. 97, p. 518, 1979; Van der Hoeve J. Eine vierte Phakomatose, Ber. ophthal. Ges., Bd 51, S. 136, 1936. JI. V. Kalinina.