Phacomatosis

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Classification according to ICD-10
Q85 Phacomatoses, not elsewhere classified
ICD-10 online (WHO version 2019)

As phacomatoses (from Greek φακός FAKOS , German , lens, spot ' , now also "Torch") is known in medicine is a group of diseases with congenital defects in the skin and nervous system (also called neurocutaneous syndromes). The term is not a precise scientific definition, but rather a construct with the help of which discussions about disease characteristics and disease causes were provisionally sorted. Due to more recent results of the molecular biological basis of diseases, the term is practically superfluous, but is still used in the literature.

definition

From the pathologist's point of view, phacomatoses are characterized by the appearance of hamartomas in several organ systems. The group of diseases in which this is the case, for historical reasons, according to the Greek word for lens phakos called phacomatoses and because of lenticular changes of the fundus in some of these diseases. The following should be noted:

The historically original group of phakomatoses actually mostly describes hereditary tumor diseases. The hamartomas, which gave this group of diseases its name, are not tumors, but tumor-like tissue changes. In the scientific literature, the term neurocutaneous diseases is understood to mean a larger group of diseases whose common characteristic is seen in certain pathogenetic mechanisms. In modern literature, some of the phakomatoses are reorganized under the heading of tumor suppressor gene diseases.

Phacomatosis as a collective term

To the phakomatoses in the narrower sense u in the sense of a collective term. a. counted the following diseases:

Examples of the classification of phacomatoses

The textbook of neurology by Mumenthaler (1979) defines the phakomatoses as malformations of the CNS and skin and includes the neurofibromatosis Recklinghausen (NF), the tuberous sclerosis Bourneville-Pringle (TS), the encephalo-facial angiomatosis Sturge-Weber (EFA) and the Retino-Cerebellar angiomatosis Hippel-Lindau (STY).

Heinz-Walter Delank's textbook on neurology (1978) defines neurocutaneous diseases on the basis of histological and embryological considerations. There it is said that the phakomatoses are dysplastic-blastomatous developmental disorders that affect ectodermal structures and thus occur as neurocutaneous diseases. The ectodermal dysplasias would become tumors and hemangiomatous malformations were of mesenchymal origin and thus formed secondarily from ectodermal tissue. Delank also counts NF, TS, EFA and RZA among the phacomatoses.

In Merrits Textbook of Neurology (1996) only the neurofibromatosis Recklinghausen (a congenital tumor disease), the encephalofacial / trigeminal angiomatosis Sturge-Weber (Krabbe / Dimitri) (a congenital vascular malformation), the incontinentia pigmenti bloom are mentioned in the chapter Neurocutaneous Disorders Sulzberger (a congenital eruptive skin disease) and Bourneville-Pringle tuberous sclerosis (again a congenital tumor). The chapter author Arnold P. Gold does not give a more detailed reason for the selection of the diseases.

The textbook of neurogenetics by Rieß and Schöls (1998), the authors VF Mautner and SM Pulst discuss neurofibromatosis type 1 and neurofibromatosis type 2 , tuberous sclerosis and Hippel-Lindau syndrome in the chapter on phakomatoses, with the reference to phakomatoses According to the definition, these are diseases of the skin and retina and the diseases mentioned are genetically characterized by the loss of function of tumor suppressor genes .

Reim's textbook on ophthalmology classifies phakomatoses among the hereditary tumors of the retina and mentions, in addition to retinoblastoma, the so-called mulberry tumors of Bourneville's tuberous sclerosis and retinal angiomatosis of Hippel-Lindau's retino-cerebellar angiomatosis . The Encephalo-Facial Angiomatosis Sturge Weber is mentioned because of its hemangiomas of the ciliary body and the Neurofibromatosis Recklinghausen because of its iris nevi (Lisch nodules), which are pathologically characterized as melanocytic hamartomas .

Historical development of the term and the disease group

Phacomatoses

In 1914 and 1919 Bielschowsky described similarities between the NF Type I and the TS. In a work from 1920, the doctor J. van der Hoeve described for the first time "lens-shaped changes" in the fundus of a patient with tuberous sclerosis and called these changes phacomas. In a work from 1923 van der Hoeve described the eye changes in the neurofibromatosis Recklinghausen and the tuberous sclerosis Bourneville as similar phenomena and suggested the neologism phakomatosis (derived from phakos = lens, birthmark) as a collective name for this group of diseases. In two other papers from 1932 and 1933, van der Hoeve suggested that Hippel-Lindau disease and Sturge-Weber syndrome should also be included in the group of phacomatoses. In a work from 1941, Madame D. Louis-Bar described a clinical picture with capillary telangiectasia of the skin and conjunctiva, nevus formation and cerebellar ataxia. She suggested adding this disease to the group of phacomatoses.

Neurofibromatosis

The cardinal symptoms of neurofibromatosis are the appearance of peripheral neurofibromas and cafe-au-lait spots. A rather anecdotal first description can be found in R. W. Smith 1849. Friedrich Daniel von Recklinghausen presented the first precise clinical and pathological characterization in 1882. Alex Thomsen published the first statistical data and a detailed bibliography around 1900. In a 1929 paper, Fulton described Robert Smith's early discovery.

Tuberous sclerosis

The cardinal symptoms of tuberous sclerosis are: giftedness, epilepsy, tuberous sclerosis of the brain, adenoma sebaceum. Some authors claim that Recklinghausen also described a case of TS in his 1862 work on the NF. What is certain, however, is that Désiré-Magloire Bourneville in 1880 described the (autopsy) findings of a patient with giftedness, epilepsy, hemiplegia and characteristic hardening of the brain tissue. In 1881, AL Hartedegen published a dissection findings from a newborn with similar neuropathological findings. In 1890 Désiré-Magloire Bourneville and Édouard Brissaud again described the (section) findings of a less gifted patient with symptomatic epilepsy and conspicuous tuberous sclerosis of the brain. They also mentioned the skin changes and called them "acne rosacee". This corresponds to today's adenoma sebaceum. In 1908 Heinrich Vogt finally documented all the symptoms that are now part of the clinical spectrum of diseases, in particular cardiac and renal tumors are mentioned.

Retinocerebellar angiomatosis

The cardinal symptoms of retinocerebellar angiomatosis are hemangiomas of the retina and cerebellum. Panas and Remy first described the retinal lesions in 1879, which we now call angiomas of the retina. In 1911 von Hippel described these retinal lesions again. Since he correctly believed that they were vessels, he named the change angiomatosis retinae. In 1926, while dissecting a patient, Lindau noticed the resemblance of the lesions in a patient's retina and cerebellum.

Encephalo-facial angiomatosis

The cardinal symptoms of encephalo-facial angiomatosis are: facial nevus , angiomas of the brain surface, hemiparesis, and focal seizures. The first description of a patient with a facial nevus and hydrophthalmos (ox eye) can be found in Schirmer 1860. In 1879, Sturge described a 6-year-old girl with facial nevus, hydrophthalmos ( buphthalmus - eye enlargement), hemiparesis and focal seizures. In 1897 Kalischer described the correspondence of angiomas on the skin of the face and on the brain surface of patients with encephalo-facial angiomatosis.

Ataxia teleangiectatica

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