Parry-Romberg syndrome
Encyclopedia
Parry–Romberg syndrome (also known as progressive hemifacial atrophy) is a rare
neurocutaneous syndrome characterized by progressive shrinkage and degeneration
of the tissues beneath the skin
, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. An autoimmune
mechanism is suspected, and the syndrome may be a variant of localized scleroderma
, but the precise etiology
and pathogenesis
of this acquired disorder
remains unknown. The syndrome has a higher prevalence
in females and typically appears between 515 years of age.
In addition to the connective tissue disease
, the condition is often accompanied by significant neurological
, ocular and oral signs
and symptom
s. The range and severity of associated symptoms and findings are highly variable.
s. The disease progressively spreads from the initial location, resulting in atrophy of the skin and its adnexa
, as well as underlying subcutaneous structures such as connective tissue
, (fat
, fascia
, cartilage
, bones) and/or muscles
of one side of the face. The mouth and nose are typically deviated towards the affected side of the face.
The process may eventually extend to involve tissues between the nose and the upper corner of the lip
, the upper jaw
, the angle of the mouth, the area around the eye and brow
, the ear, and/or the neck. The syndrome often begins with a circumscribed patch of scleroderma
in the frontal region of the scalp which is associated with a loss of hair
and the appearance of a depressed linear scar extending down through the midface on the affected side. This scar is referred to as a "coup de sabre" lesion because it resembles the scar of a wound made by a sabre, and is indistinguishable from the scar observed in frontal linear scleroderma
.
In 20% of cases, the hair and skin overlying affected areas may become hyperpigmented
or hypopigmented
with patches of unpigmented skin
. In up to 20% of cases the disease may involve the ipsilateral (on the same side) or contralateral (on the opposite side) neck, trunk, arm, or leg. The cartilage of the nose, ear and larynx can be involved. The disease has been reported to affect both sides of the face in 5-10% of the cases.
Symptoms and physical findings usually become apparent during the first or early during the second decade of life. The average age of onset is nine years of age, and the majority of individuals experience symptoms before 20 years of age. The disease may progress for several years before eventually going into remission (abruptly ceasing).
(severe pain in the tissues supplied by the ipsilateral trigeminal nerve
, including the forehead, eye, cheek, nose, mouth and jaw) and/or migraine
(severe headaches that may be accompanied by visual abnormalities, nausea and vomiting).
10% of affected individuals develop a seizure disorder as part of the disease. The seizures are typically Jacksonian
in nature (characterized by rapid spasms of a muscle group that subsequently spread to adjacent muscles) and occur on the side contralateral to the affected side of the face. Half of these cases are associated with abnormalities in both the gray
and white matter
of the brain—usually ipsilateral but sometimes contralateral—that are detectable on magnetic resonance imaging
(MRI) scan.
(recession of the eyeball within the orbit
) is the most common eye abnormality observed in Parry–Romberg syndrome. It is caused by a loss of subcutaneous tissue around the orbit. Other common findings include drooping of the eyelid
(ptosis), constriction of the pupil
(miosis), redness
of the conjunctiva
, and decreased sweating
(anhidrosis) of the affected side of the face. Collectively, these signs are referred to as Horner's syndrome
. Other ocular abnormalities include ophthalmoplegia
(paralysis of one or more of the extraocular muscles
) and other types of strabismus
, uveitis
, and heterochromia of the iris
.
, teeth and soft palate
are commonly involved in Parry–Romberg syndrome. 50% of affected individuals develop dental abnormalities such as delayed eruption
, dental root exposure
, or resorption of the dental roots
on the affected side. 35% have difficulty or inability to normally open the mouth
or other jaw symptoms, including temporomandibular joint disorder
and spasm
of the muscles of mastication
on the affected side. 25% experience atrophy of one side of the upper lip and tongue.
in their serum
supports the theory that Parry–Romberg syndrome may be an autoimmune disease, specifically a variant of localized scleroderma. Several instances have been reported where more than one member of a family has been affected, prompting speculation of an autosomal dominant inheritance
pattern. However, there has also been at least one report of monozygotic twins in which only one of the twins was affected, casting doubt on this theory. Various other theories about the etiology and pathogenesis have been suggested, including alterations in the peripheral sympathetic nervous system
(perhaps as a result of trauma or infection involving the cervical plexus
and/or the sympathetic trunk
), disorders in migration of cranial neural crest
cells, or chronic cell-mediated iflammatory process of the blood vessels. It is likely that the disease results from different mechanisms in different people, with all of these factors potentially being involved.
and physical examination
in people who present with only facial asymmetry. For those who report neurological symptoms such as migraine or seizures, MRI scan of the brain is the imaging modality of choice. A diagnostic lumbar puncture
and serum test
for autoantibodies
may also be indicated in people who present with a seizure disorder of recent onset.
s such as methotrexate
, corticosteroid
s, cyclophosphamide
, and azathioprine
. No randomized controlled trial
s have yet been conducted to evaluate such treatments, so the benefits have not been clearly established.
reconstructive surgery
to restore a more normal contour to the face. Such surgery often involves the transfer of an island parascapular fasciocutaneous flap or a free flap from the groin, rectus abdominis muscle
(Transverse Rectus Abdominis Myocutaneous or "TRAM" flap) or latissimus dorsi muscle
to the face. Severe deformities may require additional procedures, such as pedicled temporal fascia
flaps, cartilage grafts, bone grafts
, orthognathic surgery
, and bone distraction
. The timing of surgical intervention is controversial; some surgeons prefer to wait until the disease has run its course while others recommend early intervention.
(17951873) and Eduard Heinrich Henoch
(18201910). German neurologist Albert Eulenburg
(18401917) was the first to use the descriptive title "progressive hemifacial atrophy" in 1871.
Rare disease
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
neurocutaneous syndrome characterized by progressive shrinkage and degeneration
Atrophy
Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations , poor nourishment, poor circulation, loss of hormonal support, loss of nerve supply to the target organ, disuse or lack of exercise or disease intrinsic to the tissue itself...
of the tissues beneath the skin
Subcutaneous tissue
The hypodermis, also called the hypoderm, subcutaneous tissue, or superficial fascia is the lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages...
, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. An autoimmune
Autoimmune disease
Autoimmune diseases arise from an overactive immune response of the body against substances and tissues normally present in the body. In other words, the body actually attacks its own cells. The immune system mistakes some part of the body as a pathogen and attacks it. This may be restricted to...
mechanism is suspected, and the syndrome may be a variant of localized scleroderma
Morphea
Morphea is a medical term for localized scleroderma. The disease involves isolated patches of hardened skin - there generally is no internal organ involvement.-Background, nomenclature, classification & codification :...
, but the precise etiology
Etiology
Etiology is the study of causation, or origination. The word is derived from the Greek , aitiologia, "giving a reason for" ....
and pathogenesis
Pathogenesis
The pathogenesis of a disease is the mechanism by which the disease is caused. The term can also be used to describe the origin and development of the disease and whether it is acute, chronic or recurrent...
of this acquired disorder
Acquired disorder
An acquired disorder is a medical condition which develops post-fetally; in contrast with a congenital disorder, which is present at birth. A congenital disorder may be antecedent to an acquired disorder ....
remains unknown. The syndrome has a higher prevalence
Prevalence
In epidemiology, the prevalence of a health-related state in a statistical population is defined as the total number of cases of the risk factor in the population at a given time, or the total number of cases in the population, divided by the number of individuals in the population...
in females and typically appears between 515 years of age.
In addition to the connective tissue disease
Connective tissue disease
A connective tissue disease is any disease that has the connective tissues of the body as a target of pathology. Connective tissue is any type of biological tissue with an extensive extracellular matrix that supports, binds together, and protects organs...
, the condition is often accompanied by significant neurological
Neurological disorder
A neurological disorder is a disorder of the body's nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures,...
, ocular and oral signs
Medical sign
A medical sign is an objective indication of some medical fact or characteristic that may be detected by a physician during a physical examination of a patient....
and symptom
Symptom
A symptom is a departure from normal function or feeling which is noticed by a patient, indicating the presence of disease or abnormality...
s. The range and severity of associated symptoms and findings are highly variable.
Skin and connective tissues
Initial facial changes usually involve the area of the face covered by the temporal or buccinator muscleBuccinator muscle
The buccinator is a thin quadrilateral muscle, occupying the interval between the maxilla and the mandible at the side of the face.-Action:Its purpose is to pull back the angle of the mouth and to flatten the cheek area, which aids in holding the cheek to the teeth during chewing.It aids whistling...
s. The disease progressively spreads from the initial location, resulting in atrophy of the skin and its adnexa
Skin appendage
Skin appendages are appendages that are associated with the skin and serve a particular function. In humans some of the more common skin appendages are hairs , arrector pilli , sebaceous glands , sweat glands Skin appendages are appendages that are associated with the skin and serve a particular...
, as well as underlying subcutaneous structures such as connective tissue
Connective tissue
"Connective tissue" is a fibrous tissue. It is one of the four traditional classes of tissues . Connective Tissue is found throughout the body.In fact the whole framework of the skeleton and the different specialized connective tissues from the crown of the head to the toes determine the form of...
, (fat
Adipose tissue
In histology, adipose tissue or body fat or fat depot or just fat is loose connective tissue composed of adipocytes. It is technically composed of roughly only 80% fat; fat in its solitary state exists in the liver and muscles. Adipose tissue is derived from lipoblasts...
, fascia
Fascia
A fascia is a layer of fibrous tissue that permeates the human body. A fascia is a connective tissue that surrounds muscles, groups of muscles, blood vessels, and nerves, binding those structures together in much the same manner as plastic wrap can be used to hold the contents of sandwiches...
, cartilage
Cartilage
Cartilage is a flexible connective tissue found in many areas in the bodies of humans and other animals, including the joints between bones, the rib cage, the ear, the nose, the elbow, the knee, the ankle, the bronchial tubes and the intervertebral discs...
, bones) and/or muscles
Facial muscles
The facial muscles are a group of striated muscles innervated by the facial nerve that, among other things, control facial expression. These muscles are also called mimetic muscles.-Structure:...
of one side of the face. The mouth and nose are typically deviated towards the affected side of the face.
The process may eventually extend to involve tissues between the nose and the upper corner of the lip
Nasolabial fold
The nasolabial folds, commonly known as "smile lines" or "laugh lines," are facial features. They are the two skin folds that run from each side of the nose to the corners of the mouth. They separate the cheeks from the upper lip...
, the upper jaw
Maxilla
The maxilla is a fusion of two bones along the palatal fissure that form the upper jaw. This is similar to the mandible , which is also a fusion of two halves at the mental symphysis. Sometimes The maxilla (plural: maxillae) is a fusion of two bones along the palatal fissure that form the upper...
, the angle of the mouth, the area around the eye and brow
Periorbita
The periorbita is the area around the orbit. Sometimes it refers specifically to the layer of tissue surrounding the orbit that consists of periosteum. However, it may refer to anything that is around the orbit, such as in periorbital cellulitis....
, the ear, and/or the neck. The syndrome often begins with a circumscribed patch of scleroderma
Scleroderma
Systemic sclerosis or systemic scleroderma is a systemic autoimmune disease or systemic connective tissue disease that is a subtype of scleroderma.-Skin symptoms:...
in the frontal region of the scalp which is associated with a loss of hair
Cicatricial alopecia
The term cicatricial alopecia refers to a diverse group of rare disorders that destroy the hair follicle, replace it with scar tissue, and cause permanent hair loss. A variety of distributions are possible. In some cases, hair loss is gradual, without symptoms, and is unnoticed for long periods...
and the appearance of a depressed linear scar extending down through the midface on the affected side. This scar is referred to as a "coup de sabre" lesion because it resembles the scar of a wound made by a sabre, and is indistinguishable from the scar observed in frontal linear scleroderma
Frontal linear scleroderma
Frontal linear scleroderma is a type of linear scleroderma characterized by a linear band of atrophy and a furrow in the skin that occurs in the frontal or frontoparietal scalp...
.
In 20% of cases, the hair and skin overlying affected areas may become hyperpigmented
Hyperpigmentation
In dermatology, hyperpigmentation is the darkening of an area of skin or nails caused by increased melanin.-Causes:Hyperpigmentation may be caused by sun damage, inflammation, or other skin injuries, including those related to acne vulgaris...
or hypopigmented
Hypopigmentation
Hypopigmentation is the loss of skin color. It is caused by melanocyte or melanin depletion, or a decrease in the amino acid tyrosine, which is used by melanocytes to make melanin.-Treatments:...
with patches of unpigmented skin
Vitiligo
Vitiligo is a condition that causes depigmentation of sections of skin. It occurs when melanocytes, the cells responsible for skin pigmentation, die or are unable to function. The cause of vitiligo is unknown, but research suggests that it may arise from autoimmune, genetic, oxidative stress,...
. In up to 20% of cases the disease may involve the ipsilateral (on the same side) or contralateral (on the opposite side) neck, trunk, arm, or leg. The cartilage of the nose, ear and larynx can be involved. The disease has been reported to affect both sides of the face in 5-10% of the cases.
Symptoms and physical findings usually become apparent during the first or early during the second decade of life. The average age of onset is nine years of age, and the majority of individuals experience symptoms before 20 years of age. The disease may progress for several years before eventually going into remission (abruptly ceasing).
Neurological
Neurological abnormalities are common. Roughly 45% of people with Parry–Romberg syndrome are also afflicted with trigeminal neuralgiaTrigeminal neuralgia
Trigeminal neuralgia , tic douloureux is a neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. It has been described as among the most painful conditions known...
(severe pain in the tissues supplied by the ipsilateral trigeminal nerve
Trigeminal nerve
The trigeminal nerve contains both sensory and motor fibres. It is responsible for sensation in the face and certain motor functions such as biting, chewing, and swallowing. Sensory information from the face and body is processed by parallel pathways in the central nervous system...
, including the forehead, eye, cheek, nose, mouth and jaw) and/or migraine
Migraine
Migraine is a chronic neurological disorder characterized by moderate to severe headaches, and nausea...
(severe headaches that may be accompanied by visual abnormalities, nausea and vomiting).
10% of affected individuals develop a seizure disorder as part of the disease. The seizures are typically Jacksonian
Jacksonian seizure
Jacksonian seizure is associated with a form of epilepsy. They involve a progression of the location of the seizure in the brain, which leads to a "march" of the motor presentation of symptoms.-Presentation:...
in nature (characterized by rapid spasms of a muscle group that subsequently spread to adjacent muscles) and occur on the side contralateral to the affected side of the face. Half of these cases are associated with abnormalities in both the gray
Grey matter
Grey matter is a major component of the central nervous system, consisting of neuronal cell bodies, neuropil , glial cells and capillaries. Grey matter contains neural cell bodies, in contrast to white matter, which does not and mostly contains myelinated axon tracts...
and white matter
White matter
White matter is one of the two components of the central nervous system and consists mostly of myelinated axons. White matter tissue of the freshly cut brain appears pinkish white to the naked eye because myelin is composed largely of lipid tissue veined with capillaries. Its white color is due to...
of the brain—usually ipsilateral but sometimes contralateral—that are detectable on magnetic resonance imaging
Magnetic resonance imaging
Magnetic resonance imaging , nuclear magnetic resonance imaging , or magnetic resonance tomography is a medical imaging technique used in radiology to visualize detailed internal structures...
(MRI) scan.
Ocular
EnophthalmosEnophthalmos
Enophthalmos is the recession of the eyeball within the orbit.It may be a congenital anomaly, or be acquired as a result of trauma , Horner's syndrome, silent sinus syndrome, or phthisis bulbi....
(recession of the eyeball within the orbit
Orbit (anatomy)
In anatomy, the orbit is the cavity or socket of the skull in which the eye and its appendages are situated. "Orbit" can refer to the bony socket, or it can also be used to imply the contents...
) is the most common eye abnormality observed in Parry–Romberg syndrome. It is caused by a loss of subcutaneous tissue around the orbit. Other common findings include drooping of the eyelid
Ptosis (eyelid)
Ptosis is a drooping of the upper or lower eyelid. The drooping may be worse after being awake longer, when the individual's muscles are tired. This condition is sometimes called "lazy eye", but that term normally refers to amblyopia...
(ptosis), constriction of the pupil
Miosis
Miosis is the constriction of the pupil of the eye to two millimeters or less...
(miosis), redness
Erythema
Erythema is redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. It occurs with any skin injury, infection, or inflammation...
of the conjunctiva
Conjunctiva
The conjunctiva covers the sclera and lines the inside of the eyelids. It is composed of rare stratified columnar epithelium.-Function:...
, and decreased sweating
Anhidrosis
Anhidrosis means lack of sweating. It is also known by a number of other names including Adiaphoresis, Ischidrosis, Hypohidrosis, Oligidria, Oligohidrosis and Sweating deficiency.-Causes:...
(anhidrosis) of the affected side of the face. Collectively, these signs are referred to as Horner's syndrome
Horner's syndrome
Horner's syndrome is the combination of drooping of the eyelid and constriction of the pupil , sometimes accompanied by decreased sweating of the face on the same side; redness of the conjunctiva of the eye is often also present...
. Other ocular abnormalities include ophthalmoplegia
Ophthalmoparesis
Ophthalmoparesis or ophthalmoplegia refers to paralysis of one or more extraocular muscles which are responsible for eye movements. It is a physical finding in certain neurologic illnesses.-Classification:...
(paralysis of one or more of the extraocular muscles
Extraocular muscles
The extraocular muscles are the six muscles that control the movements of the eye . The actions of the extraocular muscles depend on the position of the eye at the time of muscle contraction.-List of muscles:-Importance:...
) and other types of strabismus
Strabismus
Strabismus is a condition in which the eyes are not properly aligned with each other. It typically involves a lack of coordination between the extraocular muscles, which prevents bringing the gaze of each eye to the same point in space and preventing proper binocular vision, which may adversely...
, uveitis
Uveitis
Uveitis specifically refers to inflammation of the middle layer of the eye, termed the "uvea" but in common usage may refer to any inflammatory process involving the interior of the eye....
, and heterochromia of the iris
Iris (anatomy)
The iris is a thin, circular structure in the eye, responsible for controlling the diameter and size of the pupils and thus the amount of light reaching the retina. "Eye color" is the color of the iris, which can be green, blue, or brown. In some cases it can be hazel , grey, violet, or even pink...
.
Oral
The tissues of the mouth, including the tongue, gingivaGingiva
The gingiva , or gums, consists of the mucosal tissue that lies over the mandible and maxilla inside the mouth.-General description:...
, teeth and soft palate
Soft palate
The soft palate is the soft tissue constituting the back of the roof of the mouth. The soft palate is distinguished from the hard palate at the front of the mouth in that it does not contain bone....
are commonly involved in Parry–Romberg syndrome. 50% of affected individuals develop dental abnormalities such as delayed eruption
Tooth eruption
Tooth eruption is a process in tooth development in which the teeth enter the mouth and become visible. It is currently believed that the periodontal ligaments play an important role in tooth eruption...
, dental root exposure
Receding gums
Receding gums refers to exposure in the roots of the teeth caused by a loss of gum tissue and/or retraction of the gingival margin from the crown of the teeth. Gum recession is a common problem in adults over the age of 40, but it may also occur starting from the teens...
, or resorption of the dental roots
Dental anatomy
Dental anatomy is a field of anatomy dedicated to the study of human tooth structures. The development, appearance, and classification of teeth fall within its purview. Tooth formation begins before birth, and teeth's eventual morphology is dictated during this time...
on the affected side. 35% have difficulty or inability to normally open the mouth
Trismus
-Common causes:*Pericoronitis is the most common cause of trismus.*Inflammation of muscles of mastication. It is a frequent sequel to surgical removal of mandibular third molars . The condition is usually resolved on its own in 10–14 days, during which time eating and oral hygiene are compromised...
or other jaw symptoms, including temporomandibular joint disorder
Temporomandibular joint disorder
Temporomandibular joint disorder , or TMJ syndrome, is an umbrella term covering acute or chronic inflammation of the temporomandibular joint, which connects the mandible to the skull. The disorder and resultant dysfunction can result in significant pain and impairment...
and spasm
Spasm
In medicine a spasm is a sudden, involuntary contraction of a muscle, a group of muscles, or a hollow organ, or a similarly sudden contraction of an orifice. It is sometimes accompanied by a sudden burst of pain, but is usually harmless and ceases after a few minutes...
of the muscles of mastication
Muscles of mastication
During mastication, four muscles of mastication are responsible for adduction and lateral motion of the jaw. Other muscles, usually associated with the hyoid such as the sternohyomastoid, are responsible for opening the jaw.-Muscles:*The masseter...
on the affected side. 25% experience atrophy of one side of the upper lip and tongue.
Causes
The fact that some people affected with this disease have circulating antinuclear antibodiesAnti-nuclear antibody
Anti-nuclear antibodies are autoantibodies directed against contents of the cell nucleus....
in their serum
Blood serum
In blood, the serum is the component that is neither a blood cell nor a clotting factor; it is the blood plasma with the fibrinogens removed...
supports the theory that Parry–Romberg syndrome may be an autoimmune disease, specifically a variant of localized scleroderma. Several instances have been reported where more than one member of a family has been affected, prompting speculation of an autosomal dominant inheritance
Heredity
Heredity is the passing of traits to offspring . This is the process by which an offspring cell or organism acquires or becomes predisposed to the characteristics of its parent cell or organism. Through heredity, variations exhibited by individuals can accumulate and cause some species to evolve...
pattern. However, there has also been at least one report of monozygotic twins in which only one of the twins was affected, casting doubt on this theory. Various other theories about the etiology and pathogenesis have been suggested, including alterations in the peripheral sympathetic nervous system
Sympathetic nervous system
The sympathetic nervous system is one of the three parts of the autonomic nervous system, along with the enteric and parasympathetic systems. Its general action is to mobilize the body's nervous system fight-or-flight response...
(perhaps as a result of trauma or infection involving the cervical plexus
Cervical plexus
The cervical plexus is a plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. They are located laterally to the transverse processes between prevertebral muscles from the medial side and vertebral from lateral side...
and/or the sympathetic trunk
Sympathetic trunk
The sympathetic trunks are a paired bundle of nerve fibers that run from the base of the skull to the coccyx.-Structure:...
), disorders in migration of cranial neural crest
Cranial neural crest
The cranial neural crest is a form of neural crest.The cranial neural crest arises in the anterior and populates the face and the pharyngeal arches giving rise to bones, cartilage, nerves and connective tissue...
cells, or chronic cell-mediated iflammatory process of the blood vessels. It is likely that the disease results from different mechanisms in different people, with all of these factors potentially being involved.
Diagnosis
Diagnosis can be made solely on the basis of historyMedical history
The medical history or anamnesis of a patient is information gained by a physician by asking specific questions, either of the patient or of other people who know the person and can give suitable information , with the aim of obtaining information useful in formulating a diagnosis and providing...
and physical examination
Physical examination
Physical examination or clinical examination is the process by which a doctor investigates the body of a patient for signs of disease. It generally follows the taking of the medical history — an account of the symptoms as experienced by the patient...
in people who present with only facial asymmetry. For those who report neurological symptoms such as migraine or seizures, MRI scan of the brain is the imaging modality of choice. A diagnostic lumbar puncture
Lumbar puncture
A lumbar puncture is a diagnostic and at times therapeutic procedure that is performed in order to collect a sample of cerebrospinal fluid for biochemical, microbiological, and cytological analysis, or very rarely as a treatment to relieve increased intracranial pressure.-Indications:The...
and serum test
Blood test
A blood test is a laboratory analysis performed on a blood sample that is usually extracted from a vein in the arm using a needle, or via fingerprick....
for autoantibodies
Autoantibody
An autoantibody is an antibody manufactured by the immune system that is directed against one or more of the individual's own proteins. It is derived from the Greek "auto" which means "self", "anti" which means "against" and "body"...
may also be indicated in people who present with a seizure disorder of recent onset.
Medical
Medical management may involve immunosuppressive drugImmunosuppressive drug
Immunosuppressive drugs or immunosuppressive agents are drugs that inhibit or prevent activity of the immune system. They are used in immunosuppressive therapy to:...
s such as methotrexate
Methotrexate
Methotrexate , abbreviated MTX and formerly known as amethopterin, is an antimetabolite and antifolate drug. It is used in treatment of cancer, autoimmune diseases, ectopic pregnancy, and for the induction of medical abortions. It acts by inhibiting the metabolism of folic acid. Methotrexate...
, corticosteroid
Corticosteroid
Corticosteroids are a class of steroid hormones that are produced in the adrenal cortex. Corticosteroids are involved in a wide range of physiologic systems such as stress response, immune response and regulation of inflammation, carbohydrate metabolism, protein catabolism, blood electrolyte...
s, cyclophosphamide
Cyclophosphamide
Cyclophosphamide , also known as cytophosphane, is a nitrogen mustard alkylating agent, from the oxazophorines group....
, and azathioprine
Azathioprine
Azathioprine is a purine analogue immunosuppressive drug. It is used to prevent organ rejection following organ transplantation and to treat a vast array of autoimmune diseases, including rheumatoid arthritis, pemphigus, inflammatory bowel disease , multiple sclerosis, autoimmune hepatitis, atopic...
. No randomized controlled trial
Randomized controlled trial
A randomized controlled trial is a type of scientific experiment - a form of clinical trial - most commonly used in testing the safety and efficacy or effectiveness of healthcare services or health technologies A randomized controlled trial (RCT) is a type of scientific experiment - a form of...
s have yet been conducted to evaluate such treatments, so the benefits have not been clearly established.
Surgical
Affected individuals may benefit from microsurgicalMicrosurgery
Microsurgery is a general term for surgery requiring an operating microscope. The most obvious developments have been procedures developed to allow anastomosis of successively smaller blood vessels and nerves which have allowed transfer of tissue from one part of the body to another and...
reconstructive surgery
Reconstructive surgery
Reconstructive surgery is, in its broadest sense, the use of surgery to restore the form and function of the body, although Maxillo-Facial Surgeons, Plastic Surgeons and Otolaryngologists do reconstructive surgery on faces after trauma and to reconstruct the head and neck after cancer.Other...
to restore a more normal contour to the face. Such surgery often involves the transfer of an island parascapular fasciocutaneous flap or a free flap from the groin, rectus abdominis muscle
Rectus abdominis muscle
The rectus abdominis muscle, also known as the "six pack", is a paired muscle running vertically on each side of the anterior wall of the human abdomen . There are two parallel muscles, separated by a midline band of connective tissue called the linea alba...
(Transverse Rectus Abdominis Myocutaneous or "TRAM" flap) or latissimus dorsi muscle
Latissimus dorsi muscle
The latissimus dorsi , meaning 'broadest muscle of the back' , is the larger, flat, dorso-lateral muscle on the trunk, posterior to the arm, and partly covered by the trapezius on its median dorsal region.The latissimus dorsi is responsible for extension,...
to the face. Severe deformities may require additional procedures, such as pedicled temporal fascia
Temporal fascia
The temporal fascia covers the Temporalis muscle.It is a strong, fibrous investment, covered, laterally, by the Auricularis anterior and superior, by the galea aponeurotica, and by part of the Orbicularis oculi....
flaps, cartilage grafts, bone grafts
Bone grafting
Bone grafting is a surgical procedure that replaces missing bone in order to repair bone fractures that are extremely complex, pose a significant health risk to the patient, or fail to heal properly....
, orthognathic surgery
Orthognathic surgery
Orthognathic surgery is surgery to correct conditions of the jaw and face related to structure, growth, sleep apnea, TMJ disorders, malocclusion problems owing to skeletal disharmonies, or other orthodontic problems that cannot be easily treated with braces. Originally coined by Dr. Harold...
, and bone distraction
Distraction osteogenesis
Distraction osteogenesis, also called callus distraction, callotasis and osteodistraction is a surgical process used to reconstruct skeletal deformities and lengthen the long bones of the body...
. The timing of surgical intervention is controversial; some surgeons prefer to wait until the disease has run its course while others recommend early intervention.
Epidemiology
Parry–Romberg syndrome appears to occur randomly and for unknown reasons. Prevalence is higher in females than males, with a ratio of roughly 3:2. The condition is observed on the left side of the face about as often as on the right side.History
The disease was first described in 1825 by Caleb Hillier Parry (17551822), in a collection of his medical writings which were published posthumously by his son Charles Henry Parry (17791860). It was described a second time in 1846 by Moritz Heinrich RombergMoritz Heinrich Romberg
Moritz Heinrich Romberg was a Jewish physician from Berlin who published his classic textbook in sections between 1840 and 1846; Edward Henry Sieveking translated it into English in 1853....
(17951873) and Eduard Heinrich Henoch
Eduard Heinrich Henoch
Eduard Heinrich Henoch was a German physician. He taught at the Berlin University .-Work:...
(18201910). German neurologist Albert Eulenburg
Albert Eulenburg
Albert Eulenburg was a German neurologist who was a native of Berlin. He studied medicine at the Universities of Berlin, Bern and Zurich, earning his doctorate 1861. Among his instructors were Johannes Peter Müller , Ludwig Traube and Albrecht von Graefe...
(18401917) was the first to use the descriptive title "progressive hemifacial atrophy" in 1871.
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See also
- Hemifacial microsomiaHemifacial microsomiaHemifacial microsomia is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It can occur on one side of the face or both. If severe it can lead to difficulties in breathing, obstructing the trachea and requiring a...
- List of cutaneous conditions
- Trigeminal trophic lesionTrigeminal trophic lesionTrigeminal trophic lesions are a cutaneous condition caused by the interruption of peripheral or central sensory pathways of the trigeminal nerve that result in a slowly enlarging, uninflammed ulcer on the cheek beside the ala nasi.Sixty cases were reported from 1982 to 2002.- See also :*...
External links
- The Romberg's Connection: an international support group for individuals and families whose lives are affected by Parry–Romberg syndrome
- Parry-Romberg Syndrome Resource: a nonprofit organization dedicated to providing awareness of Parry-Romberg Disease