Phakomatosis

As phakomatoses (from Greek φακός, FAKOS, "lens", "stain ", today " torch " ) is called in medicine, a group of diseases with congenital defects in the skin and the nervous system. When the term is not an exact scientific definition, but rather a construct that allows discussions about disease characteristics and disease causes were sorted provisional. Based on recent results of molecular biological basis of disease, the term is practically superfluous, but is still used in the literature.

Definition

From the viewpoint of the pathologist phakomatoses are characterized by the occurrence of hamartomas in several organ systems. The group of diseases in which this is the case is called for historical reasons, according to the Greek word for lens Phakos and because of lenticular changes of the ocular fundus in some of these diseases phakomatoses. In particular you should note:

The historically original group of phakomatoses referred in fact mostly hereditary tumor diseases. The hamartomas, which gave their name to this group of diseases, but they are not tumors, but tumor- like tissue changes. The term neurocutaneous diseases is understood disease in the scientific literature a larger group whose common feature is seen in certain pathogenetic mechanisms. In the modern literature a part of phakomatoses is reorganized under the heading of the tumor suppressor gene disorders.

Phakomatosis as a collective term

The phakomatoses in the narrow sense in terms of a collective name, among others following diseases counted:

• Neurofibromatosis type 1 von Recklinghausen
• Tuberous sclerosis Tuberous Sclerosis
• Retino - cerebellar angiomatosis Hippel -Lindau
• Ence- Facial angiomatosis Sturge -Weber
• Ataxia Telangiectasia Louis- Bar
• Peutz -Jeghers syndrome - intestinal polyposis with perioral pigmentation.

Examples of the classification of phakomatoses

The textbook of neurology of Mumenthaler (1979 ) defines the phakomatoses as malformations of the central nervous system and skin and is this the neurofibromatosis Recklinghausen ( NF), the Tuberous Sclerosis Tuberous Sclerosis (TS ), the encephalo - Faciale angiomatosis Sturge- Weber ( EFA) and the retino - cerebellar angiomatosis Hippel -Lindau ( RZA ).

The textbook of neurology of Delank (1994 ) defines the neurocutaneous diseases due to histological and embryological considerations. There it is, the phakomatoses were dysplastic - blastomatöse developmental disorders that affect ectodermal structures and thus act as neurocutaneous disorders. The ectodermal dysplasias would be to tumors and hämangiomatösen malformations are of mesenchymal origin and thus formed secondarily from ectodermal tissue. Delank one of the phakomatoses also NF, TS, EFA and RZA.

In Merrit's Textbook of Neurology ( 1996) in the chapter Neurocutaneous Disorders only the neurofibromatosis Recklinghausen ( a congenital tumor disease ), the Encephalofaciale-/trigeminale angiomatosis Sturge -Weber ( crab / Dimitri ) ( a congenital vascular malformation ), incontinentia pigmenti Bloch- Sulzberger ( a congenital eruptive skin disease) and the tuberous sclerosis Bourneville - Pringle (again a congenital tumor disease ) are dealt with. The chapter author Arnold P. Gold are doing for the selection of cases of no further justification.

Textbook of Neurogenetics of Riess and Schöls (1998) the authors discuss VF Mautner and S. M. Pulses in the chapter phakomatoses the neurofibromatosis type 1 and neurofibromatosis type 2, tuberous sclerosis, and von Hippel- Lindau syndrome with the note that, the phakomatoses it were, by definition, diseases of skin and retina and the mentioned diseases are genetically by the loss of function of tumor suppressor genes excellent.

The textbook of ophthalmology of rhyme classifies the phakomatoses among the hereditary tumors of the retina and retinoblastoma mentioned next to the so-called mulberry tumors of tuberous sclerosis Bourneville and the retinal angiomatosis of the retino - cerebellar angiomatosis Hippel -Lindau. The encephalo - angiomatosis Faciale Sturge Weber is mentioned because of their hemangiomas of Zilliarkörpers and neurofibromatosis Recklinghausen because of their iris nevi ( Lisch nodules ), which are characterized pathologically as melanocytic hamartomas.

Historical development of the concept and the group of diseases

Phakomatoses

In the years 1914 and 1919 Bielschowsky describes similarities between the NF Type I and TS. In a work of 1920, the physician J. van der Hoeve describes for the first time " lenticular changes " in the fundus of a patient with tuberous sclerosis and calls these changes Phakome. In a work of 1923 van der Hoeve describes the ocular manifestations in neurofibromatosis Recklinghausen and the tuberous sclerosis Bourneville as similar phenomena and proposes the neologism phakomatosis (derived from Phakos = lens, nevus ) is a collective term for this group of diseases. In two other works from the years 1932 and 1933 suggests that the van Hoeve, to calculate the von Hippel- Lindau disease and the Sturge -Weber syndrome also to the group of phakomatoses. In a work from 1941 Madame D. Louis- Bar describes a disease with capillary telangiectasia of the skin and conjunctiva, Naevusbildung and cerebellar ataxia. It proposes to expect this disease to the group of phakomatoses.

Neurofibromatosis

The cardinal manifestations of neurofibromatosis are the occurrence of peripheral neurofibromas and cafe-au -lait spots. A rather anecdotal first description can be found in RW Smith 1849. 1882 From Recklinghausen put the first precise clinical and pathological characterization ago. Alex Thomsen gave out in 1900 for the first statistical data, and a detailed bibliography. In a work of 1929 Fulton described the early detection of Robert Smith.

Tuberous sclerosis

The cardinal symptoms of tuberous sclerosis are: intellectual deficit, epilepsy, tuberous sclerosis of the brain, adenoma sebaceum. Some authors claim that Recklinghausen has described in his work on the NF of 1862 a case of TS. But it is certain that Désiré - Magloire Bourneville in 1880 described the (sectional ) findings of a patient with intellectual deficit, epilepsy, hemiplegia and characteristic hardening of the brain tissue. 1881 AL Harte published a sword autopsy of a newborn with similar neuropathological findings. Désiré - Magloire in 1890 described Bourneville and Brissaud Édouard again the (sectional ) findings of a less gifted patients with symptomatic epilepsy and tuberous sclerosis of the brain eye-catching. You also mentioned the lesions and called it " acne Rosacee ". This corresponds sebaceum today adenoma. Heinrich Vogt finally documented in 1908 all today on the clinical spectrum of diseases counted symptoms, especially cardiac and renal tumors find the mention.

Retinocerebelläre angiomatosis

The cardinal symptoms of Retinocerebellären angiomatosis are hemangiomas of the retina and cerebellum. Panas and Remy 1879 for the first time describe the retinal lesions, which we refer to as angiomas of the retina today. In 1911 described von Hippel again these retinal lesions. As he rightly believes that if it were vessels, he cites the change in retinal angiomatosis. In 1926 Lindau noted at necropsy of a patient, the similarity of the lesions in the retina and cerebellum of a patient.

Ence- Facial angiomatosis

The cardinal symptoms of encephalo -facial angiomatosis are: Gesichtsnaevus, angiomas of the brain surface, hemiparesis, and focal seizures. The first description of a patient with a Gesichtsnaevus and Hydrophthalmus ( Meadow Brown) can be found in Schirmer 1860 Sturge describes in 1879 a 6 year old girl with a Gesichtsnaevus, Hydrophthalmus ( Buphthalmus - Eye magnification)., Hemiparesis and partial seizures. 1897 Kalisz describes the conformity of angioma of the facial skin and on the surface of the brain of patients with encephalo -facial angiomatosis.

Ataxia Telangiectasia

The cardinal symptoms of ataxia-telangiectasia are cerebellar ataxia, oculocutane Teleangiectasien and thymic hypoplasia. The first description this disease is found in 1926 in a paper by Syllaba and Henner. They call their discovery of a case of congenital and idiopathic athetosis. Dénise Louis- Bar 1941 describes a patient with the classic combination of cerebellar ataxia and Teleangiectasien. In three independent articles written several authors describe 1957, the characteristic symptoms of the disease.

• Disease in neurology
• Skin disease