Parry-Romberg syndrome: Difference between revisions

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{{Infobox Disease |
Historical Perspective
  Name          = Parry-Romberg syndrome |
  Image          = |
  Caption        = |
  DiseasesDB    = 30151 |
  ICD10          = {{ICD10|G|51|8|g|50}} |
  ICD9          = {{ICD9|349.89}} |
  ICDO          = |
  OMIM          = 141300 |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID        = D005150 |
}}
{{SI}}
{{CMG}}


==Overview==
Parry–Romberg syndrome (PRS) is a rare condition first described in 1825 by Caleb Parry and in
1846 Moritz Romberg provided a detailed description of the disease Due to diseases feature
such as gradual shrinkage of the facial tissue Albert Eulenburg in 1871 named it as progressive
hemifacial atrophy. Some evidence suggests that the condition has historical roots, as it is
found in 2 out of 200 ancient mummy portraits.<ref name="pmidPMID: 33348939">{{cite journal| author=Arif T, Fatima R, Sami M| title=Parry-Romberg syndrome: a mini review. | journal=Acta Dermatovenerol Alp Pannonica Adriat | year= 2020 | volume= 29 | issue= 4 | pages= 193-199 | pmid=PMID: 33348939 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33348939  }} </ref>


'''Parry-Romberg syndrome''' (sometimes called just '''Romberg syndrome''') is a rare, incurable craniofacial disorder which is characterized by the slow [[atrophy]] of the [[subcutaneous]] (under the skin) muscle usually on half of the face (hemifacial atrophy). It has a higher prevalence in females and normally appears between the ages of 5 and 15. The condition also causes neurological symptoms, including [[seizure]]s and severe facial pain.<ref>{{NINDS|parry_romberg}}</ref>
Pathophysiology:


It is classified as a rare disease in the United States.  
PRS also known as progressive hemifacial atrophy is a neurocutaneous disorder characterized
by unilateral facial atrophy affecting skin, tissues, muscles, and even bone on one side of
the face the pathophysiology of the disease is unclear but literature suggests that issue in some
specific parts of the brain play a significant role. These areas include regions around the upper
sympathetic ganglion, certain areas of the spinal cord, and fluid-filled cysts in spinal cord conditions
known as syringomyelia . These problems can affect involuntary function on one side of
the face and can impact the brainstem.<ref name="pmidPMID: 22405645">{{cite journal| author=El-Kehdy J, Abbas O, Rubeiz N| title=A review of Parry-Romberg syndrome. | journal=J Am Acad Dermatol | year= 2012 | volume= 67 | issue= 4 | pages= 769-84 | pmid=PMID: 22405645 | doi=10.1016/j.jaad.2012.01.019 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22405645  }} </ref>


==Historical Perspective==
Additionally, many people have a dormant form of the varicella-zoster virus in nerve cells
The name comes from Parry (1825) and Henoch and [[Moritz Heinrich Romberg|Romberg]] (1846) who first described the disease.<ref>{{WhoNamedIt|synd|1285}}</ref><ref>{{cite journal |author=Cory RC, Clayman DA, Faillace WJ, McKee SW, Gama CH |title=Clinical and radiologic findings in progressive facial hemiatrophy (Parry-Romberg syndrome) |journal=AJNR Am J Neuroradiol |volume=18 |issue=4 |pages=751–7 |year=1997 |pmid=9127045 |doi= |url=http://www.ajnr.org/cgi/pmidlookup?view=long&pmid=9127045}}</ref>
associated with the trigeminal nerve. If this virus becomes active again, it can spread to the
trigeminal nerve, leading to an immune response where lymphocytes attack the nerve and the
nearby blood vessels, potentially contributing to the development of PRS<ref name="pmidPMID: 5300433">{{cite journal| author=Naumann G, Gass JD, Font RL| title=Histopathology of herpes zoster ophthalmicus. | journal=Am J Ophthalmol | year= 1968 | volume= 65 | issue= 4 | pages= 533-41 | pmid=PMID: 5300433 | doi=10.1016/0002-9394(68)93869-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5300433  }} </ref>


Presenting symptoms:


==Classification==
The symptoms of PRS are similar to linear scleroderma en coup de saber, which makes the
*[Disease name] may be classified according to [classification method] into [number] subtypes/groups:
diagnosis of PRS challenging. In this condition, the eye and the region around the eye are affected, leading to symptoms such as a sunken eye, changes in the eyelid, eye socket, cornea, and
:*[group1]
retina as well as issues with the optical nerve and eye moments. The skin of
:*[group2]
the affected side becomes lighter or darker and the shrinking of muscles sometimes extends to the
:*[group3]
other body parts such as the neck arms and even the opposite side. It can cause hair loss,
*Other variants of [disease name] include [disease subtype 1], [disease subtype 2], and [disease subtype 3].
tongue shrinking, vision problems, and differences in eye color these are the sign of Horner-
Bernard syndrome the changes in the skin is resemble scleroderma which is accompanied
==Pathophysiology==
by neurological problems such as seizures, migraines, trigeminal neuralgia<ref name="pmidPMID: 23354893">{{cite journal| author=Fornwalt BE, Altman JS| title=Parry-Romberg syndrome in an adult: report of a case. | journal=Ear Nose Throat J | year= 2013 | volume= 92 | issue= 1 | pages= E1-3 | pmid=PMID: 23354893 | doi=10.1177/014556131309200115 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23354893  }} </ref>
*The pathogenesis of [disease name] is characterized by [feature1], [feature2], and [feature3].
*The [gene name] gene/Mutation in [gene name] has been associated with the development of [disease name], involving the [molecular pathway] pathway.
*On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
*On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
==Causes==
* [Disease name] may be caused by either [cause1], [cause2], or [cause3].
* [Disease name] is caused by a mutation in the [gene1], [gene2], or [gene3] gene[s].
* There are no established causes for [disease name].
==Differentiating [disease name] from other Diseases==
*[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as:
:*[Differential dx1]
:*[Differential dx2]
:*[Differential dx3]
==Epidemiology and Demographics==
* The prevalence of [disease name] is approximately [number or range] per 100,000 individuals worldwide.
* In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].
===Age===
*Patients of all age groups may develop [disease name].
*[Disease name] is more commonly observed among patients aged [age range] years old.
*[Disease name] is more commonly observed among [elderly patients/young patients/children].
===Gender===
*[Disease name] affects men and women equally.
*[Gender 1] are more commonly affected with [disease name] than [gender 2].
* The [gender 1] to [Gender 2] ratio is approximately [number > 1] to 1.
===Race===
*There is no racial predilection for [disease name].
*[Disease name] usually affects individuals of the [race 1] race.
*[Race 2] individuals are less likely to develop [disease name].
==Risk Factors==
*Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
== Natural History, Complications and Prognosis==
===Natural History===
Parry-Romberg syndrome is a rare disorder characterized by slowly progressive degeneration (atrophy) of the soft tissues of half of the face (hemifacial atrophy). Some individuals may experience distinctive changes of the eyes and hair; and neurological abnormalities including episodes of uncontrolled electrical disturbances in the brain (seizures) and episodes of severe pain in tissues supplied by the fifth cranial nerve (trigeminal nerve) including the mouth, cheek, nose, and/or other facial tissues (trigeminal neuralgia). Symptoms and physical findings associated with Parry-Romberg syndrome usually become apparent during the first or early during the second decade of life. In rare cases, the disorder is apparent at birth. The majority of individuals with Parry-Romberg syndrome experience symptoms before the age of 20 years.


In individuals with the disorder, initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and progress to involve the angle of the mouth, the areas around the eye, the brow, the ear, and/or the neck. Progressive tissue wasting can be on either side of the face. In some rare cases, the atrophy may be bilateral. Affected areas may demonstrate shrinkage and atrophy of tissues beneath the skin (subcutaneous tissue), the layer of fat under the skin (subcutaneous fat), and underlying cartilage, muscle, and bone.
Causes:


In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo). Many individuals also experience atrophy of half of the upper lip and tongue as well as abnormal exposure, delayed eruption, or wasting of the roots of certain teeth on the affected side. Symptoms of Parry-Romberg syndrome may begin at any age. Facial atrophy may cease abruptly, or progress slowly and then become stationary. If the atrophy becomes stationary, it may reactivate later in life. In other cases, the atrophy may progress indefinitely. In some cases, hair abnormalities may also appear on the affected side, including whitening (blanching) of the hair as well as abnormal bald patches on the scalp and loss of eyelashes and the middle (median) portion of the eyebrows (alopecia).  
The cause of the diseases is not clear however literature has suggested several potential
factors that contribute to the development of the diseases such as autoimmune, trauma,
neurovascular, infection, genetics, Sympathetic nervous system dysfunction, and others.


In addition, some individuals with Parry-Romberg syndrome may also experience associated neurological abnormalities. These may include severe headaches that last for extended periods of time and may be accompanied by visual abnormalities, nausea, and vomiting (migraines); facial pain (trigeminal neuralgia); and/or periods of uncontrolled electrical disturbances in the brain (seizures) that usually are characterized by rapid spasms of a muscle group that spread to adjacent muscles (contralateral Jacksonian epilepsy). The range and severity of associated symptoms and findings may vary from case to case. In most cases, Parry-Romberg syndrome appears to occur randomly for unknown reasons (sporadically).<ref>[http://www.peacehealth.org/kbase/nord/nord489.htm Parry Romberg Syndrome<!-- Bot generated title -->]</ref>
Autoimmune:


===Complications===
PRS is hypothetically considered autoimmune, with some studies suggesting an association
with autoimmune disorders. The evidence supporting this hypothesis includes symptoms such as
trigeminal neuralgia and other neurological manifestations. Additionally, immunological
abnormalities reported in PRS patients indicate a possible dysregulation of the immune system<ref name="pmidPMID: 26066627">{{cite journal| author=Wong M, Phillips CD, Hagiwara M, Shatzkes DR| title=Parry Romberg Syndrome: 7 Cases and Literature Review. | journal=AJNR Am J Neuroradiol | year= 2015 | volume= 36 | issue= 7 | pages= 1355-61 | pmid=PMID: 26066627 | doi=10.3174/ajnr.A4297 | pmc=7965290 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26066627  }} </ref>


===Prognosis===
Trauma:
The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected. In mild cases, the disorder usually causes no disability other than cosmetic effects.


Approximately 24-34% of patients had a history of trauma before the onset of the symptoms of
(PRS) which may occur due to tooth extraction, surgery procedures, or gynecological
interventions. Additionally, development of the diseases has also been associated with trauma
resulting from accidents.<ref name="pmidPMID: 22405645">{{cite journal| author=El-Kehdy J, Abbas O, Rubeiz N| title=A review of Parry-Romberg syndrome. | journal=J Am Acad Dermatol | year= 2012 | volume= 67 | issue= 4 | pages= 769-84 | pmid=PMID: 22405645 | doi=10.1016/j.jaad.2012.01.019 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22405645  }} </ref>


==Diagnosis==
Neurovascular:


'''Marked thinning of the skin in the right frontal region is consistent with Parry Romberg syndrome'''
The inflammation of blood vessels specifically lymphocytic neuro-vasculitis is a cause of PRS in
<gallery>
this condition the immune system attacks on the blood vessels and damages them effect
Image:
nerves particularly the trigeminal nerve a major nerve in the face.<ref name="pmidPMID: 35758422">{{cite journal| author=Fang CL, Tsai CB, Chen MS| title=Multi-Staged Surgeries for Coexisting Facial Asymmetry and Strabismus in Parry-Romberg Syndrome. | journal=J Craniofac Surg | year= 2022 | volume= 33 | issue= 5 | pages= e495-e497 | pmid=PMID: 35758422 | doi=10.1097/SCS.0000000000008400 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=35758422  }} </ref>


Parry Romberg syndrome 1.jpg
Infection:


Image:
PRS may be caused by infections such as Lyme disease, herpes, tuberculosis, tooth infection,
and diphtheria and some others can also cause disease but still the association between PRS and
infection is not clear<ref name="pmidPMID: 27045226">{{cite journal| author=Bucher F, Fricke J, Neugebauer A, Cursiefen C, Heindl LM| title=Ophthalmological manifestations of Parry-Romberg syndrome. | journal=Surv Ophthalmol | year= 2016 | volume= 61 | issue= 6 | pages= 693-701 | pmid=PMID: 27045226 | doi=10.1016/j.survophthal.2016.03.009 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27045226  }} </ref>


Parry Romberg syndrome 2.jpg
Genetics:


Image:
Research on the genetic causes of the disease has not provided clear evidence that it is
hereditary. However, patients have shown increased activity in specific genes that promote
inflammation, such as GFCSF3, ADAMTS4, and IL24 were more active in PRS patients.<ref name="pmidPMID: 29878995">{{cite journal| author=Chen JT, Eisinger B, Esquibel C, Poore SO, Eliceiri K, Siebert JW| title=Changes in Cutaneous Gene Expression after Microvascular Free Tissue Transfer in Parry-Romberg Syndrome. | journal=Plast Reconstr Surg | year= 2018 | volume= 142 | issue= 3 | pages= 303e-309e | pmid=PMID: 29878995 | doi=10.1097/PRS.0000000000004638 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29878995  }} </ref>


Parry Romberg syndrome 3.jpg
Epidemiology and Demographics:


Image:
PRS is a rare disease and the incidence of the disease is reported at 1 in 70000 to 1 in 250000
</gallery>
individual this diseases affect 1,000,000 worldwide <ref name="pmidPMID: 38592689">{{cite journal| author=Saulle I, Gidaro A, Donadoni M, Vanetti C, Mutti A, Romano ME | display-authors=etal| title=Immunological Profiles in Parry-Romberg Syndrome: A Case-Control Study. | journal=J Clin Med | year= 2024 | volume= 13 | issue= 5 | pages=  | pmid=PMID: 38592689 | doi=10.3390/jcm13051219 | pmc=10932088 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=38592689  }} </ref>


===Diagnostic Criteria===
Age:
*The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:
:*[criterion 1]
:*[criterion 2]
:*[criterion 3]
:*[criterion 4]
=== Symptoms ===
*[Disease name] is usually asymptomatic.
*Symptoms of [disease name] may include the following:
:*[symptom 1]
:*[symptom 2]
:*[symptom 3]
:*[symptom 4]
:*[symptom 5]
:*[symptom 6]
=== Physical Examination ===
*Patients with [disease name] usually appear [general appearance].
*Physical examination may be remarkable for:
:*[finding 1]
:*[finding 2]
:*[finding 3]
:*[finding 4]
:*[finding 5]
:*[finding 6]
=== Laboratory Findings ===
*There are no specific laboratory findings associated with [disease name].


*A  [positive/negative] [test name] is diagnostic of [disease name].
The age at which the disease begins can vary, but it is most commonly observed around 10 years
*An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
old or within the first 20 years of life.<ref name="pmidPMID: 33348939">{{cite journal| author=Arif T, Fatima R, Sami M| title=Parry-Romberg syndrome: a mini review. | journal=Acta Dermatovenerol Alp Pannonica Adriat | year= 2020 | volume= 29 | issue= 4 | pages= 193-199 | pmid=PMID: 33348939 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33348939  }} </ref>
*Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
===Imaging Findings===
*There are no [imaging study] findings associated with [disease name].
*[Imaging study 1] is the imaging modality of choice for [disease name].
*On [imaging study 1], [disease name] is characterized by [finding 1], [finding 2], and [finding 3].
*[Imaging study 2] may demonstrate [finding 1], [finding 2], and [finding 3].
=== Other Diagnostic Studies ===
*[Disease name] may also be diagnosed using [diagnostic study name].
*Findings on [diagnostic study name] include [finding 1], [finding 2], and [finding 3].


==Treatment==
Gender:
===Medical Therapy==
Investigations suggest that the disease is predominant in females.<ref name="pmidPMID: 38592689">{{cite journal| author=Saulle I, Gidaro A, Donadoni M, Vanetti C, Mutti A, Romano ME | display-authors=etal| title=Immunological Profiles in Parry-Romberg Syndrome: A Case-Control Study. | journal=J Clin Med | year= 2024 | volume= 13 | issue= 5 | pages= | pmid=PMID: 38592689 | doi=10.3390/jcm13051219 | pmc=10932088 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=38592689  }} </ref>
There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. Most surgeons will recommend a waiting period of one or two years before proceeding with reconstruction. Muscle or bone grafts may also be helpful. Other treatment is symptomatic and supportive.


===Surgery===
Diagnosis:


===Prevention===
At the time of diagnosis during physical examination and history taking some clinical symptoms
related to Facial, Ophthalmic, Neuro-ophthalmological, Neurologic, Maxillofacial, Cardiac and
Endocrine is looking out for favoring the diagnosis of PRS over scleroderma. After this some
diagnostic workup will be done.<ref name="pmidPMID: 19745718">{{cite journal| author=Duymaz A, Karabekmez FE, Keskin M, Tosun Z| title=Parry-Romberg syndrome: facial atrophy and its relationship with other regions of the body. | journal=Ann Plast Surg | year= 2009 | volume= 63 | issue= 4 | pages= 457-61 | pmid=PMID: 19745718 | doi=10.1097/SAP.0b013e31818bed6d | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19745718  }} </ref>


==External links==
Physical examination:
*{{RareDiseases|7338|Progressive hemifacial atrophy; Parry-Romberg syndrome}}


==References==
It includes an examination of the eye, dental, skin Rheumatology, and neurology
{{reflist|2}}


[[Category:Rheumatology]]
Orbital Ultrasound/ultrasound biomicroscopy:


[[de:Parry-Romberg-Syndrom]]
To look at the back part of the eye and if it is blocked due to cataracts or corneal opacity then
[[he:תסמונת פארי-רומברג]]
orbital ultrasound is used to observe changes in the ciliary part of the brain ultrasound
[[pl:Zespół Parry'ego-Romberga]]
biomicroscopy is used<ref name="pmidPMID: 26181554">{{cite journal| author=Vix J, Mathis S, Lacoste M, Guillevin R, Neau JP| title=Neurological Manifestations in Parry-Romberg Syndrome: 2 Case Reports. | journal=Medicine (Baltimore) | year= 2015 | volume= 94 | issue= 28 | pages= e1147 | pmid=PMID: 26181554 | doi=10.1097/MD.0000000000001147 | pmc=4617071 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26181554  }} </ref>


{{WH}}
CT scan:
{{WS}}
 
To see any changes in the eye socket (orbital) the bone around the eyes, and the skull
 
Electroencephalogram:
 
Epilepsy seizures are also observed in this disease there for EEG is performed to find out the area
of the brain that is causing seizures in epilepsy cases
 
Cerebrospinal fluid (CSF) analysis
 
During neurological examination, it usually shows normal results but in some cases, specific
protein band oligoclonal bands and increased IGg index appear which are linked to certain brain
lesion visible on MRI<ref name="pmidPMID: 26181554">{{cite journal| author=Vix J, Mathis S, Lacoste M, Guillevin R, Neau JP| title=Neurological Manifestations in Parry-Romberg Syndrome: 2 Case Reports. | journal=Medicine (Baltimore) | year= 2015 | volume= 94 | issue= 28 | pages= e1147 | pmid=PMID: 26181554 | doi=10.1097/MD.0000000000001147 | pmc=4617071 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26181554  }} </ref>
 
MRI:
 
To evaluate this disease MRI 1 is performed to identify the area in the brain where tissue is shrunk
or thinned out and MRI2 sequence highlights the unusual bright spot in brain
 
MR Angiogram:
 
It shows where and how much number of blood vessels in the brain are abnormal
 
Brain SPECT Scan:
 
It detects small brain problems that might be not visible on regular scan<ref name="pmidPMID: 12536035">{{cite journal| author=Grosso S, Fioravanti A, Biasi G, Conversano E, Marcolongo R, Morgese G | display-authors=etal| title=Linear scleroderma associated with progressive brain atrophy. | journal=Brain Dev | year= 2003 | volume= 25 | issue= 1 | pages= 57-61 | pmid=PMID: 12536035 | doi=10.1016/s0387-7604(02)00147-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12536035  }} </ref>
 
Orthopantomograms:
 
Regular X rays and photos are used to detect the changes in jaw bone and teeth
 
Skin biopsy:
 
It is not mostly done but it is used to differentiate PRS from its similar condition
 
Anti-nuclear antibody (ANA)
 
ANA shows positive results in 25-50% of PRS cases<ref name="pmidPMID: 16443052">{{cite journal| author=Sommer A, Gambichler T, Bacharach-Buhles M, von Rothenburg T, Altmeyer P, Kreuter A| title=Clinical and serological characteristics of progressive facial hemiatrophy: a case series of 12 patients. | journal=J Am Acad Dermatol | year= 2006 | volume= 54 | issue= 2 | pages= 227-33 | pmid=PMID: 16443052 | doi=10.1016/j.jaad.2005.10.020 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16443052  }} </ref>
 
Other serology tests:
 
These tests are not useful in diagnosing PRS
 
Treatment:
 
There are various treatment options are available to overcome the disease and improvement of
appearance is also considered the available treatment options are
 
Medication/radiation/eye drops
 
This treatment is effective for suppressing the immune system it includes Methotrexate (MTX) it
prevent the diseases from coming back the dose range of the medication is 0.3 to 1 milligram
per kilogram of body weight per week and it is combined with another medication that could be
Corticosteroids such as prednisolone or methylprednisolone PMID: 16027298 and if the disease
do not respond to this medication then other will be used such as mycophenolate mofetil,
cyclophosphamide, hydroxychloroquine, and cyclosporine. And Psoralen and Ultraviolet a
(PUVA) light is used to stop diseases from progressing. For management of eye related issues
eye drops are used to reduce inflammation and steroids are also used as a drop or in the form of
pills this treatment is continued until the eye becomes normal and to protect the eye surface
from damage, the eyelids may be gently taped shut, and lubricating eye drops be used to protect
eye from damage and trabeculectomy is used to protect the eye from damage due to high pressure
and misalignment of the eye is treated with surgery or glasses and in case of neurological
management like seizures medications are used to control this problem<ref name="pmidPMID: 34662020">{{cite journal| author=| title=StatPearls | journal= | year= 2024 | volume=  | issue=  | pages=  | pmid=PMID: 34662020 | doi= | pmc= | url= }} </ref>
 
Surgery:
 
It is important for the management of appearance as well as for the eyes which are
effect due to disease like if the white part of the eye becomes thin or melts the scleral patch graft is
considered as best treatment option the surgery option is also available for the cosmetic
treatment after the diseases stop progressing and eye related cosmetic treatments include
frontalis sling surgery, browpexy or Z-plasty, and other options are also available to treat
sunken eye, contracted eye socket, Drooping Eyelid PMID: 30851754, plastic surgery option
include Synthetic Tissue Fillers to correct uneven facial features, Autologous Fat Grafting,
orthognathic surgery and Free Soft Tissue Transplantation are done to provide good cosmetic
results<ref name="pmidPMID: 26335318">{{cite journal| author=Ortega VG, Sastoque D| title=New and Successful Technique for the Management of Parry-Romberg Syndrome's Soft Tissue Atrophy. | journal=J Craniofac Surg | year= 2015 | volume= 26 | issue= 6 | pages= e507-10 | pmid=PMID: 26335318 | doi=10.1097/SCS.0000000000002023 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26335318  }} </ref>

Revision as of 07:02, 14 September 2024

Historical Perspective

Parry–Romberg syndrome (PRS) is a rare condition first described in 1825 by Caleb Parry and in 1846 Moritz Romberg provided a detailed description of the disease Due to diseases feature such as gradual shrinkage of the facial tissue Albert Eulenburg in 1871 named it as progressive hemifacial atrophy. Some evidence suggests that the condition has historical roots, as it is found in 2 out of 200 ancient mummy portraits.[1]

Pathophysiology:

PRS also known as progressive hemifacial atrophy is a neurocutaneous disorder characterized by unilateral facial atrophy affecting skin, tissues, muscles, and even bone on one side of the face the pathophysiology of the disease is unclear but literature suggests that issue in some specific parts of the brain play a significant role. These areas include regions around the upper sympathetic ganglion, certain areas of the spinal cord, and fluid-filled cysts in spinal cord conditions known as syringomyelia . These problems can affect involuntary function on one side of the face and can impact the brainstem.[2]

Additionally, many people have a dormant form of the varicella-zoster virus in nerve cells associated with the trigeminal nerve. If this virus becomes active again, it can spread to the trigeminal nerve, leading to an immune response where lymphocytes attack the nerve and the nearby blood vessels, potentially contributing to the development of PRS[3]

Presenting symptoms:

The symptoms of PRS are similar to linear scleroderma en coup de saber, which makes the diagnosis of PRS challenging. In this condition, the eye and the region around the eye are affected, leading to symptoms such as a sunken eye, changes in the eyelid, eye socket, cornea, and retina as well as issues with the optical nerve and eye moments. The skin of the affected side becomes lighter or darker and the shrinking of muscles sometimes extends to the other body parts such as the neck arms and even the opposite side. It can cause hair loss, tongue shrinking, vision problems, and differences in eye color these are the sign of Horner- Bernard syndrome the changes in the skin is resemble scleroderma which is accompanied by neurological problems such as seizures, migraines, trigeminal neuralgia[4]

Causes:

The cause of the diseases is not clear however literature has suggested several potential factors that contribute to the development of the diseases such as autoimmune, trauma, neurovascular, infection, genetics, Sympathetic nervous system dysfunction, and others.

Autoimmune:

PRS is hypothetically considered autoimmune, with some studies suggesting an association with autoimmune disorders. The evidence supporting this hypothesis includes symptoms such as trigeminal neuralgia and other neurological manifestations. Additionally, immunological abnormalities reported in PRS patients indicate a possible dysregulation of the immune system[5]

Trauma:

Approximately 24-34% of patients had a history of trauma before the onset of the symptoms of (PRS) which may occur due to tooth extraction, surgery procedures, or gynecological interventions. Additionally, development of the diseases has also been associated with trauma resulting from accidents.[2]

Neurovascular:

The inflammation of blood vessels specifically lymphocytic neuro-vasculitis is a cause of PRS in this condition the immune system attacks on the blood vessels and damages them effect nerves particularly the trigeminal nerve a major nerve in the face.[6]

Infection:

PRS may be caused by infections such as Lyme disease, herpes, tuberculosis, tooth infection, and diphtheria and some others can also cause disease but still the association between PRS and infection is not clear[7]

Genetics:

Research on the genetic causes of the disease has not provided clear evidence that it is hereditary. However, patients have shown increased activity in specific genes that promote inflammation, such as GFCSF3, ADAMTS4, and IL24 were more active in PRS patients.[8]

Epidemiology and Demographics:

PRS is a rare disease and the incidence of the disease is reported at 1 in 70000 to 1 in 250000 individual this diseases affect 1,000,000 worldwide [9]

Age:

The age at which the disease begins can vary, but it is most commonly observed around 10 years old or within the first 20 years of life.[1]

Gender: Investigations suggest that the disease is predominant in females.[9]

Diagnosis:

At the time of diagnosis during physical examination and history taking some clinical symptoms related to Facial, Ophthalmic, Neuro-ophthalmological, Neurologic, Maxillofacial, Cardiac and Endocrine is looking out for favoring the diagnosis of PRS over scleroderma. After this some diagnostic workup will be done.[10]

Physical examination:

It includes an examination of the eye, dental, skin Rheumatology, and neurology

Orbital Ultrasound/ultrasound biomicroscopy:

To look at the back part of the eye and if it is blocked due to cataracts or corneal opacity then orbital ultrasound is used to observe changes in the ciliary part of the brain ultrasound biomicroscopy is used[11]

CT scan:

To see any changes in the eye socket (orbital) the bone around the eyes, and the skull

Electroencephalogram:

Epilepsy seizures are also observed in this disease there for EEG is performed to find out the area of the brain that is causing seizures in epilepsy cases

Cerebrospinal fluid (CSF) analysis

During neurological examination, it usually shows normal results but in some cases, specific protein band oligoclonal bands and increased IGg index appear which are linked to certain brain lesion visible on MRI[11]

MRI:

To evaluate this disease MRI 1 is performed to identify the area in the brain where tissue is shrunk or thinned out and MRI2 sequence highlights the unusual bright spot in brain

MR Angiogram:

It shows where and how much number of blood vessels in the brain are abnormal

Brain SPECT Scan:

It detects small brain problems that might be not visible on regular scan[12]

Orthopantomograms:

Regular X rays and photos are used to detect the changes in jaw bone and teeth

Skin biopsy:

It is not mostly done but it is used to differentiate PRS from its similar condition

Anti-nuclear antibody (ANA)

ANA shows positive results in 25-50% of PRS cases[13]

Other serology tests:

These tests are not useful in diagnosing PRS

Treatment:

There are various treatment options are available to overcome the disease and improvement of appearance is also considered the available treatment options are

Medication/radiation/eye drops

This treatment is effective for suppressing the immune system it includes Methotrexate (MTX) it prevent the diseases from coming back the dose range of the medication is 0.3 to 1 milligram per kilogram of body weight per week and it is combined with another medication that could be Corticosteroids such as prednisolone or methylprednisolone PMID: 16027298 and if the disease do not respond to this medication then other will be used such as mycophenolate mofetil, cyclophosphamide, hydroxychloroquine, and cyclosporine. And Psoralen and Ultraviolet a (PUVA) light is used to stop diseases from progressing. For management of eye related issues eye drops are used to reduce inflammation and steroids are also used as a drop or in the form of pills this treatment is continued until the eye becomes normal and to protect the eye surface from damage, the eyelids may be gently taped shut, and lubricating eye drops be used to protect eye from damage and trabeculectomy is used to protect the eye from damage due to high pressure and misalignment of the eye is treated with surgery or glasses and in case of neurological management like seizures medications are used to control this problem[14]

Surgery:

It is important for the management of appearance as well as for the eyes which are effect due to disease like if the white part of the eye becomes thin or melts the scleral patch graft is considered as best treatment option the surgery option is also available for the cosmetic treatment after the diseases stop progressing and eye related cosmetic treatments include frontalis sling surgery, browpexy or Z-plasty, and other options are also available to treat sunken eye, contracted eye socket, Drooping Eyelid PMID: 30851754, plastic surgery option include Synthetic Tissue Fillers to correct uneven facial features, Autologous Fat Grafting, orthognathic surgery and Free Soft Tissue Transplantation are done to provide good cosmetic results[15]

  1. ↑ 1.0 1.1 Arif T, Fatima R, Sami M (2020). "Parry-Romberg syndrome: a mini review". Acta Dermatovenerol Alp Pannonica Adriat. 29 (4): 193–199. PMID 33348939 PMID: 33348939 Check |pmid= value (help).
  2. ↑ 2.0 2.1 El-Kehdy J, Abbas O, Rubeiz N (2012). "A review of Parry-Romberg syndrome". J Am Acad Dermatol. 67 (4): 769–84. doi:10.1016/j.jaad.2012.01.019. PMID 22405645 PMID: 22405645 Check |pmid= value (help).
  3. ↑ Naumann G, Gass JD, Font RL (1968). "Histopathology of herpes zoster ophthalmicus". Am J Ophthalmol. 65 (4): 533–41. doi:10.1016/0002-9394(68)93869-5. PMID 5300433 PMID: 5300433 Check |pmid= value (help).
  4. ↑ Fornwalt BE, Altman JS (2013). "Parry-Romberg syndrome in an adult: report of a case". Ear Nose Throat J. 92 (1): E1–3. doi:10.1177/014556131309200115. PMID 23354893 PMID: 23354893 Check |pmid= value (help).
  5. ↑ Wong M, Phillips CD, Hagiwara M, Shatzkes DR (2015). "Parry Romberg Syndrome: 7 Cases and Literature Review". AJNR Am J Neuroradiol. 36 (7): 1355–61. doi:10.3174/ajnr.A4297. PMC 7965290 Check |pmc= value (help). PMID 26066627 PMID: 26066627 Check |pmid= value (help).
  6. ↑ Fang CL, Tsai CB, Chen MS (2022). "Multi-Staged Surgeries for Coexisting Facial Asymmetry and Strabismus in Parry-Romberg Syndrome". J Craniofac Surg. 33 (5): e495–e497. doi:10.1097/SCS.0000000000008400. PMID 35758422 PMID: 35758422 Check |pmid= value (help).
  7. ↑ Bucher F, Fricke J, Neugebauer A, Cursiefen C, Heindl LM (2016). "Ophthalmological manifestations of Parry-Romberg syndrome". Surv Ophthalmol. 61 (6): 693–701. doi:10.1016/j.survophthal.2016.03.009. PMID 27045226 PMID: 27045226 Check |pmid= value (help).
  8. ↑ Chen JT, Eisinger B, Esquibel C, Poore SO, Eliceiri K, Siebert JW (2018). "Changes in Cutaneous Gene Expression after Microvascular Free Tissue Transfer in Parry-Romberg Syndrome". Plast Reconstr Surg. 142 (3): 303e–309e. doi:10.1097/PRS.0000000000004638. PMID 29878995 PMID: 29878995 Check |pmid= value (help).
  9. ↑ 9.0 9.1 Saulle I, Gidaro A, Donadoni M, Vanetti C, Mutti A, Romano ME; et al. (2024). "Immunological Profiles in Parry-Romberg Syndrome: A Case-Control Study". J Clin Med. 13 (5). doi:10.3390/jcm13051219. PMC 10932088 Check |pmc= value (help). PMID 38592689 PMID: 38592689 Check |pmid= value (help).
  10. ↑ Duymaz A, Karabekmez FE, Keskin M, Tosun Z (2009). "Parry-Romberg syndrome: facial atrophy and its relationship with other regions of the body". Ann Plast Surg. 63 (4): 457–61. doi:10.1097/SAP.0b013e31818bed6d. PMID 19745718 PMID: 19745718 Check |pmid= value (help).
  11. ↑ 11.0 11.1 Vix J, Mathis S, Lacoste M, Guillevin R, Neau JP (2015). "Neurological Manifestations in Parry-Romberg Syndrome: 2 Case Reports". Medicine (Baltimore). 94 (28): e1147. doi:10.1097/MD.0000000000001147. PMC 4617071. PMID 26181554 PMID: 26181554 Check |pmid= value (help).
  12. ↑ Grosso S, Fioravanti A, Biasi G, Conversano E, Marcolongo R, Morgese G; et al. (2003). "Linear scleroderma associated with progressive brain atrophy". Brain Dev. 25 (1): 57–61. doi:10.1016/s0387-7604(02)00147-x. PMID 12536035 PMID: 12536035 Check |pmid= value (help).
  13. ↑ Sommer A, Gambichler T, Bacharach-Buhles M, von Rothenburg T, Altmeyer P, Kreuter A (2006). "Clinical and serological characteristics of progressive facial hemiatrophy: a case series of 12 patients". J Am Acad Dermatol. 54 (2): 227–33. doi:10.1016/j.jaad.2005.10.020. PMID 16443052 PMID: 16443052 Check |pmid= value (help).
  14. ↑ "StatPearls". 2024. PMID 34662020 PMID: 34662020 Check |pmid= value (help).
  15. ↑ Ortega VG, Sastoque D (2015). "New and Successful Technique for the Management of Parry-Romberg Syndrome's Soft Tissue Atrophy". J Craniofac Surg. 26 (6): e507–10. doi:10.1097/SCS.0000000000002023. PMID 26335318 PMID: 26335318 Check |pmid= value (help).
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