Phakomatosis: Difference between revisions

From WikiMD's Wellness Encyclopedia

← Older editNewer edit →
CSV import
CSV import
Line 1: Line 1:
{{Infobox medical condition (new)
{{Short description|A group of neurocutaneous disorders}}
| name            = Phakomatoses
{{Medical resources}}
| synonyms        = Phakomatosis
| image          =
| caption        =
| pronounce      =
| field          =
| symptoms        =
| complications  =
| onset          =
| duration        =
| types          =
| causes          =
| risks          =
| diagnosis      =
| differential    =
| prevention      =
| treatment      =
| medication      =
| prognosis      =
| frequency      =
| deaths          =
}}
'''Phakomatoses''' refers to a group of '''neuro-oculo-cutaneous syndromes''' or '''neurocutaneous disorders''' involving structures arising from the embryonic [[ectoderm]]. These multisystem disorders involve the ectodermal structures like [[central nervous system]], skin and eyes.<ref name="neuroderm 2014">{{cite journal|last1=Neau|first1=JP|last2=Godeneche|first2=G|last3=Mathis|first3=S|last4=Guillet|first4=G|title=Neurodermatology.|journal=Handbook of Clinical Neurology|date=2014|volume=121|pages=1561–94|pmid=24365436|doi=10.1016/B978-0-7020-4088-7.00104-8|isbn=9780702040887}}</ref> The lesions have a variable severity.<ref name="Rook(FRCP.)2004">{{cite book|author1=Arthur Rook|author2=Tony Burns (FRCP.)|title=Rook's textbook of dermatology|url=https://books.google.com/books?id=t2tERO4tAg8C&pg=SA5-PA69|accessdate=27 October 2010|year=2004|publisher=Wiley-Blackwell|isbn=978-0-632-06429-8|pages=5–}}</ref><ref>{{cite journal|last1=Barbagallo|first1=JS|last2=Kolodzieh|first2=MS|last3=Silverberg|first3=NB|last4=Weinberg|first4=JM|title=Neurocutaneous disorders.|journal=Dermatologic Clinics|date=Jul 2002|volume=20|issue=3|pages=547–60, viii|pmid=12170887|doi=10.1016/s0733-8635(02)00005-0}}</ref> However, it has been subsequently noted that mesodermal and endodermal tissues too are involved.


A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as [[von Hippel-Lindau disease]], ectodermal presentation is minimal.<ref>{{cite web|url=http://www.medcyclopaedia.com/library/topics/volume_vi_1/p/PHAKOMATOSIS.aspx|archive-url=https://archive.is/20120205101842/http://www.medcyclopaedia.com/library/topics/volume_vi_1/p/PHAKOMATOSIS.aspx|dead-url=yes|archive-date=2012-02-05|title=Phakomatosis|publisher=[[General Electric|GE]]|work=Medcyclopaedia}}</ref>
'''Phakomatosis''' is a term used to describe a group of [[neurocutaneous disorders]] characterized by the presence of [[lesions]] on the skin and [[central nervous system]]. These disorders are typically congenital and are caused by genetic mutations that affect the development of multiple [[organ systems]].


==Examples==
==Overview==
Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category.<ref name="YanoffDuker2009">{{cite book|author1=Myron Yanoff|author2=Jay S. Duker|title=Ophthalmology|url=https://books.google.com/books?id=u43MTFr7-m8C&pg=PA937|accessdate=27 October 2010|year=2009|publisher=Elsevier Health Sciences|isbn=978-0-323-04332-8|pages=937–}}</ref>
Phakomatoses are a group of disorders that primarily affect the [[skin]], [[nervous system]], and sometimes other [[organs]]. The term "phakomatosis" is derived from the Greek word "phakos," meaning "birthmark," reflecting the common feature of skin lesions in these conditions. These disorders are often associated with [[tumors]], [[vascular malformations]], and other developmental abnormalities.


Conditions included are:
==Common Types of Phakomatosis==
Several well-known conditions fall under the category of phakomatosis, including:


* [[Ataxia telangiectasia]]  
===Neurofibromatosis===
* [[Incontinentia pigmenti]]
[[Neurofibromatosis]] is one of the most common phakomatoses and is divided into two main types: [[Neurofibromatosis type 1]] (NF1) and [[Neurofibromatosis type 2]] (NF2). NF1 is characterized by [[café-au-lait spots]], [[neurofibromas]], and [[Lisch nodules]] on the [[iris]]. NF2 is associated with [[bilateral vestibular schwannomas]] and other [[tumors]] of the [[nervous system]].
* [[Neurofibromatosis]]
 
* [[Nevoid basal cell carcinoma syndrome]]
===Tuberous Sclerosis Complex===
* [[Sturge-Weber syndrome]]
[[Tuberous sclerosis complex]] (TSC) is characterized by the development of benign tumors in multiple organs, including the [[brain]], [[skin]], [[kidneys]], and [[heart]]. Common skin manifestations include [[angiofibromas]], [[hypomelanotic macules]], and [[shagreen patches]].
* [[Tuberous sclerosis]]
 
* [[Wyburn-Mason syndrome]] (Bonnet–Dechaume–Blanc syndrome)
===Sturge-Weber Syndrome===
* [[von Hippel-Lindau disease]]
[[Sturge-Weber syndrome]] is a condition marked by a facial [[port-wine stain]], [[leptomeningeal angiomas]], and neurological abnormalities. It is associated with seizures, developmental delays, and [[glaucoma]].
==Etymology==
 
The term, from the Greek φακός, ''phakos'', "spot, lens", suffix-(o)ma (-ωμα) and the suffix -osis,  also called "Mother's spot" or "Birth mark" was introduced by [[Jan van der Hoeve]] in 1920, before the distinct genetic basis of each of these diseases was understood.<ref>{{cite web| first      = Ole Daniel| last      = Enersen| url        = http://www.whonamedit.com/doctor.cfm/792.html| title      = Jan van der Hoeve| publisher  = [[Who Named It]]?| accessdate = 2007-07-13}}</ref>
===Von Hippel-Lindau Disease===
[[Von Hippel-Lindau disease]] is a genetic disorder characterized by the formation of [[hemangioblastomas]] in the [[central nervous system]] and [[retina]], as well as [[renal cell carcinoma]] and [[pheochromocytomas]].
 
==Pathophysiology==
Phakomatoses are caused by mutations in genes that are involved in the regulation of cell growth and development. These mutations lead to the formation of [[tumors]] and other abnormalities in the [[nervous system]] and [[skin]]. The specific genetic mutations and their effects vary among the different types of phakomatosis.


==References==
==Diagnosis==
{{reflist}}
Diagnosis of phakomatosis is based on clinical evaluation, family history, and genetic testing. Imaging studies such as [[MRI]] and [[CT scans]] are often used to identify [[tumors]] and other abnormalities in the [[brain]] and other organs.


== External links ==
==Management==
{{Medical resources
Management of phakomatosis involves a multidisciplinary approach, including regular monitoring for the development of [[tumors]] and other complications. Treatment may include surgical removal of [[tumors]], [[medication]] to control symptoms, and supportive therapies to address developmental and neurological issues.
|  DiseasesDB    = 31496
|  ICD10          = {{ICD10|Q|85||q|80}}
|  ICD9          = {{ICD9|759.5}}-{{ICD9|759.6}}
|  ICDO          =
|  OMIM          =
|  MedlinePlus    =
|  eMedicineSubj  =
|  eMedicineTopic =
|  MeshID        = D020752
}}
* [http://www.omim.org/ OMIM] is an Online Catalog of Human Genes and Genetic Disorders


{{Phakomatoses}}
==Prognosis==
[[Category:Neurocutaneous conditions]]
The prognosis for individuals with phakomatosis varies depending on the specific condition and the severity of symptoms. Early diagnosis and management can improve outcomes and quality of life for affected individuals.


==Related pages==
* [[Neurofibromatosis]]
* [[Tuberous sclerosis complex]]
* [[Sturge-Weber syndrome]]
* [[Von Hippel-Lindau disease]]


{{nervoussystem-disease-stub}}
[[Category:Neurocutaneous disorders]]
<gallery>
[[Category:Genetic disorders]]
File:Symptoms_of_neurofibromatosis_type_1_-_censored_version.png|Symptoms of Neurofibromatosis Type 1
File:Symptoms_of_neurofibromatosis_type_1.png|Symptoms of Neurofibromatosis Type 1
File:Diagnostic_criteria_of_neurofibromatosis_type_I.jpg|Diagnostic Criteria of Neurofibromatosis Type I
File:Neurofibromatosis_type_II_tumor_types.png|Neurofibromatosis Type II Tumor Types
File:Patient_with_facial_angiofibromas_caused_by_tuberous_sclerosis.jpg|Patient with Facial Angiofibromas Caused by Tuberous Sclerosis
File:Symptoms_and_signs_of_tuberous_sclerosis.png|Symptoms and Signs of Tuberous Sclerosis
File:Port_wine_stains_of_an_8-year-old_female_with_Sturge-Weber_Syndrome.png|Port Wine Stains of an 8-year-old Female with Sturge-Weber Syndrome
File:Cysts_and_tumors_in_Von_Hippel–Lindau_disease.png|Cysts and Tumors in Von Hippel–Lindau Disease
</gallery>

Revision as of 19:07, 22 March 2025

A group of neurocutaneous disorders



Phakomatosis is a term used to describe a group of neurocutaneous disorders characterized by the presence of lesions on the skin and central nervous system. These disorders are typically congenital and are caused by genetic mutations that affect the development of multiple organ systems.

Overview

Phakomatoses are a group of disorders that primarily affect the skin, nervous system, and sometimes other organs. The term "phakomatosis" is derived from the Greek word "phakos," meaning "birthmark," reflecting the common feature of skin lesions in these conditions. These disorders are often associated with tumors, vascular malformations, and other developmental abnormalities.

Common Types of Phakomatosis

Several well-known conditions fall under the category of phakomatosis, including:

Neurofibromatosis

Neurofibromatosis is one of the most common phakomatoses and is divided into two main types: Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2). NF1 is characterized by café-au-lait spots, neurofibromas, and Lisch nodules on the iris. NF2 is associated with bilateral vestibular schwannomas and other tumors of the nervous system.

Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is characterized by the development of benign tumors in multiple organs, including the brain, skin, kidneys, and heart. Common skin manifestations include angiofibromas, hypomelanotic macules, and shagreen patches.

Sturge-Weber Syndrome

Sturge-Weber syndrome is a condition marked by a facial port-wine stain, leptomeningeal angiomas, and neurological abnormalities. It is associated with seizures, developmental delays, and glaucoma.

Von Hippel-Lindau Disease

Von Hippel-Lindau disease is a genetic disorder characterized by the formation of hemangioblastomas in the central nervous system and retina, as well as renal cell carcinoma and pheochromocytomas.

Pathophysiology

Phakomatoses are caused by mutations in genes that are involved in the regulation of cell growth and development. These mutations lead to the formation of tumors and other abnormalities in the nervous system and skin. The specific genetic mutations and their effects vary among the different types of phakomatosis.

Diagnosis

Diagnosis of phakomatosis is based on clinical evaluation, family history, and genetic testing. Imaging studies such as MRI and CT scans are often used to identify tumors and other abnormalities in the brain and other organs.

Management

Management of phakomatosis involves a multidisciplinary approach, including regular monitoring for the development of tumors and other complications. Treatment may include surgical removal of tumors, medication to control symptoms, and supportive therapies to address developmental and neurological issues.

Prognosis

The prognosis for individuals with phakomatosis varies depending on the specific condition and the severity of symptoms. Early diagnosis and management can improve outcomes and quality of life for affected individuals.

Related pages

Retrieved from "https://wikimd.com/index.php?title=Phakomatosis&oldid=6533912"