ROTMUNDA SYNDROME

From Big Medical Encyclopedia

ROTMUNDA SYNDROME (A. Rothmund, is mute. ophthalmologist, 1830 — 1906; synonym Rotmund's dystrophy) — the hereditary syndrome which is characterized by atrophic changes of skin with teleangiectasias and disturbance of pigmentation, a juvenile cataract, and in some cases the symptoms connected with an underdevelopment of nervous and endocrine systems.

Rotmundom under the name «cataract in a combination to a peculiar degeneration of skin» is described in 1868.

Etiology and pathogeny Rubles of page are unknown. Believe that R. of page is one of forms of an ectodermal dysplasia. In its pathogeny a part is played by inborn endocrine frustration, and also, according to Adams (R. D. Adams, 1979), disturbance of the neyrokutanny relations.

Patogistologiya: atrophy of epidermis and appendages of skin, thinning collagenic and death of elastic fibers; in a derma vessels are expanded places.

The river of page meets seldom; begins at the age of 3 — 4 months, sometimes later (up to 5 years); more often girls are ill.

The first manifestations Rubles of page arise on face skin, auricles, buttocks and the flexion surfaces of extremities. Along with numerous teleangiectasias (see), erythematic centers and rashes of type livedo (see) there are sites hyper - and depigmentation of skin, and also an atrophy, i.e. changes of skin remind poikiloderma (see). At the age of 3 — 6 years at sick R. of page bilateral quickly develops cataract (see), almost always leading to a blindness. Further the phenomena of a hypogonadism can be found — amenorrhea (see), cryptorchism (see), a fistulous voice, etc. (see. Hypogonadism ). Low growth, small brushes, feet and other disturbances of a skeletogeny, sometimes scanty growth of hair and premature baldness, dystrophic changes of nails and teeth are possible. Disturbances of intelligence meet seldom.

Rubles of page differentiate with Verner's syndrome (see. Verner syndrome ), and also Blum's syndrome and Thomson's syndrome (see. Poikiloderma ).

Treatment River of page symptomatic; constant observation of the oculist is necessary.

Forecast River of page for life favorable; for sight bad.

Prevention it is not developed.


Bibliography: Dermatological sindromologiya, under the editorship of R. S. Babayants, Yerevan, 1974; Dermatology in general medicine, ed. by T. B. Fitzpatrick a. o., p. 1206, N. Y. a. o., 1979; Greither A. u. Dyckerhoff D. t)ber das Rothmund-und das Werner-Syndrom, Arch. klin. exp. Derm., Bd 201, S. 411, 1959; Rothmund A. t)ber Cataracten in Verbindung mit einer eigenthiimlichen Hautdegenera-tion, Arch. Ophthal., Bd 14, S. 159, 1868.


L. H. Mashkilleyson.

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