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Facial Hemiatrophy

PHA


Presentation

  • In two other children, associated autoimmune manifestations were present.[ncbi.nlm.nih.gov]
  • The present article reports such a case of an 8-year-old girl who presented with mainly hard tissue changes, without neurological or intraoral soft tissue changes.[doi.org]
  • Statistically significant histopathological features were: connective tissue fibrosis present in all cases with SCS and two of nine patients with PFH (P 0.0002); adnexal atrophy present in 11 of 13 patients with SCS, and in three of nine with PFH (P 0.02[ncbi.nlm.nih.gov]
  • At time of presentation, she was suffering from blurred vision in her left eye. She presented with mild enophthalmos associated with eyelid atrophy and loss of cilia.[ncbi.nlm.nih.gov]
Epilepsy
  • The cranial CT and MRI appearances of a 14-year-old girl with Parry-Romberg syndrome and epilepsy are described. The findings are compared with the two published descriptions of MRI and CT in such patients.[ncbi.nlm.nih.gov]
  • Carica un file multimediale Wikipedia Istanza di malattia Sottoclasse di facial nerve disease, brain inflammatory disease, inflammatory and autoimmune disease with epilepsy, genetic peripheral neuropathy, rare genetic epilepsy Prende il nome da Moritz[commons.wikimedia.org]
  • We report four patients with PFH associated with partial epilepsy in whom brain MRI showed cerebral dysgenesis. The four patients (two men, two women; age range: 24 to 73 years) developed parasagittal PFH in their second decade.[ncbi.nlm.nih.gov]
  • RESULTS: One patient with epilepsy had abnormal brain findings confined to the cerebral hemisphere homolateral to the facial hemiatrophy. These consisted of monoventricular enlargement, meningocortical dysmorphia, and white-matter changes.[ncbi.nlm.nih.gov]
  • The most common complications that appear in association to this health disorder are: trigeminal neuritis, facial paresthesia, severe headache and epilepsy, being this last one the most frequent complication of the Central Nervous System.[ncbi.nlm.nih.gov]
Hairy Tongue
  • tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma[en.wikipedia.org]
Alopecia
  • Other clinical features more frequently found in SCS were cutaneous hyperpigmentation and alopecia. The more frequent clinical features in PFH were total hemifacial involvement and ocular changes.[ncbi.nlm.nih.gov]
  • It may be associated with a localized patch of scleroderma in the frontal region of the scalp, causing a patch of cicatrical alopecia (called a 'coup de sabre' because it resembles the scar of a wound made by a sabre).[whonamedit.com]
  • There was a patch of alopecia and atropic areas of skin, recognised as scleroderma "en coup de sabre". Ophthalmic examination showed miosis. Horner's syndrome and ocular motility disturbance.[ncbi.nlm.nih.gov]
  • PHA may start with alopecia, hair hypopigmentation, and atrophy may be preceded by cutaneous induration and hypo- or hyperpigmentation.[orpha.net]
  • […] side A sunken-in appearance of both the eye, as well as the cheek, on the affected side of the face Changes in skin color (pigmentation), including darkening (hyperpigmentation) or lightening (hypopigmentation) Facial hair may turn white and fall out (alopecia[childrenshospital.org]
Decreased Sweating
  • 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.[en.wikipedia.org]
Seizure
  • Intractable complex partial seizures developed in a 3-year-old female with normal intracranial findings on computed tomography.[ncbi.nlm.nih.gov]
  • Seizures started before the age of 20 years in three patients and were refractory simple, or complex partial seizures.[ncbi.nlm.nih.gov]
  • Seizures, ophthalmoparesis, and pupillary abnormalities are the most common. The aetiology and pathogenesis of the disease are unknown. The possibility that this is a slow virus' disease is suggested.[doi.org]
  • We describe a woman with right hemifacial atrophy, a high palate, partial left motor seizures, and mild atrophy of the left arm.[ncbi.nlm.nih.gov]
  • During seizures presumably related to her PFHA, she suffered pathologic fractures on two occasions. The second of these might have been avoided had her condition been better understood.[ncbi.nlm.nih.gov]
Trigeminal Neuralgia
  • We describe 2 patients with PRS and neurological symptoms (one with trigeminal neuralgia associated with deafness, and the second with hemifacial pain associated with migraine without aura) in conjunction with abnormal cerebral MRI including white matter[ncbi.nlm.nih.gov]
  • Similar to our case, phenotypes of the other published cases seem to agree with trigeminal neuropathic pain rather than trigeminal neuralgia specifically.[ncbi.nlm.nih.gov]
Headache
  • The most common complications that appear in association to this health disorder are: trigeminal neuritis, facial paresthesia, severe headache and epilepsy, being this last one the most frequent complication of the Central Nervous System.[ncbi.nlm.nih.gov]
  • These various neurological manifestations include seizures, headaches, movement disorders, neuropsychological symptoms, and focal symptoms.[ncbi.nlm.nih.gov]
  • Almost half of our patients presented with CNS manifestations comprising unilateral headache, migraine and epilepsy with or without abnormalities on MRI. Brain biopsy in one patient was consistent with Rasmussen encephalitis.[ncbi.nlm.nih.gov]
  • University-based tertiary referral headache center. A 37-year-old woman with progressive facial hemiatrophy and strictly left-sided facial pain over 12 years.[ncbi.nlm.nih.gov]

Workup

  • These guidelines provide an overview of the definition, epidemiology, classification, pathogenesis, laboratory workup, histopathology, clinical scoring systems, as well as imaging and device-based workup of localized scleroderma.[therombergsconnection.com]
  • In the absence of trauma or infection, a complete workup and evaluation is indicated and perhaps an etiology can be identified. Best wishes.[realself.com]

Treatment

  • It is a suitable technique of choice in the treatment of bilateral progressive facial hemiatrophy.[ncbi.nlm.nih.gov]
  • […] to stop the progression of progressive hemifacial atrophy, but various treatments have been tried.[rarediseases.info.nih.gov]
  • Orthodontic treatment can help in the correction of any associated malformation.[ncbi.nlm.nih.gov]
  • Despite the absence of specific immunosuppressive treatments, both patients have presented stable imaging during follow-up without any clinical neurologic progression.[ncbi.nlm.nih.gov]

Prognosis

  • The prognosis for vision was good. Fluid silicone injection was the major modality in treatment and the results were generally excellent.[ncbi.nlm.nih.gov]
  • Back to top What is the prognosis? The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected.[faces-cranio.org]
  • What is the prognosis for Parry-Romberg syndrome? The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected.[medicinenet.com]
  • Prognosis The prognosis for persons with Parry Romberg Syndrome varies from one person to another. In some persons, the atrophy will end before the person’s entire face gets affected.[syndromespedia.com]

Etiology

  • Etiological investigations showed the presence of antinuclear antibodies and a positive Rose-Waaler latex test without an inflammatory syndrome. Corticotherapy was proposed (1 mg/kg/day) with good progression.[ncbi.nlm.nih.gov]
  • The etiology of the disease and the bridging of this case to phakomatoses are discussed.[ncbi.nlm.nih.gov]
  • PURPOSE: To gain further insight into the pathogenesis of progressive facial hemiatrophy, a sporadic disease of unclear etiology characterized by shrinking and deformation of one side of the face. METHODS: We investigated possible brain involvement.[ncbi.nlm.nih.gov]
  • The etiology of this rare syndrome still remains unclear.[medigoo.com]
  • Etiology The exact etiology of PHA is unknown.[orpha.net]

Epidemiology

  • These guidelines provide an overview of the definition, epidemiology, classification, pathogenesis, laboratory workup, histopathology, clinical scoring systems, as well as imaging and device-based workup of localized scleroderma.[therombergsconnection.com]
  • Summary Epidemiology The prevalence is estimated to be at least 1/700,000 individuals, women being slightly more affected than men.[orpha.net]
  • Record : found Abstract : found Article : not found Juvenile localized scleroderma: clinical and epidemiological features in 750 children. An international study.[scienceopen.com]
  • […] cartilage grafts, bone grafts, orthognathic surgery, and bone distraction. [14] The timing of surgical intervention is controversial; some surgeons prefer to wait until the disease has run its course [3] while others recommend early intervention. [15] Epidemiology[en.wikipedia.org]
  • Epidemiology of childhood cancer in India. Indian J Cancer 2009;46:264-73. [ PUBMED ] 5. Mishra SK, Ramesh C. Reproduction of custom-made eye prosthesis manoeuvre: A case report. J Dent Oral Hyg 2009;1:59-63. 6. Lubkin V, Sloan S.[j-ips.org]
Sex distribution
Age distribution

Pathophysiology

  • The cause and pathophysiology are unknown. Ophthalmic involvement is common, with progressive enophthalmos a frequent finding.[ncbi.nlm.nih.gov]
  • We reviewed the literature on published cases of progressive facial hemiatrophy (Parry-Romberg syndrome) to identify possible pathophysiological mechanisms of the syndrome.[ncbi.nlm.nih.gov]
  • The cause and pathophysiology are unknown.[indjos.com]
  • Trauma Heredity Peripheral trigeminal neuritis FACIAL HEMIATROPHY PATHOPHYSIOLOGY: It has been suggested that Facial Hemiatrophy is primarily caused by arrest of development during growing period or toward the end of it.[medifitbiologicals.com]
  • The pathophysiology of the syndrome remains unknown.[ncbi.nlm.nih.gov]

Prevention

  • Management of PFH comprises a long term follow-up of somatic disorders, and prevention of psychological problems. Treatment of PFH is symptomatic and consists of plastic surgery after the disease activity has stopped.[ncbi.nlm.nih.gov]
  • Because the length of the surgery is long, electrolytes and glucose often are needed to be monitored to prevent arrhythmias and hypoglycemia.[omicsonline.org]
  • The NINDS supports research on neurological disorders such as Parry-Romberg syndrome with the goal of finding ways to prevent, treat, and cure them.[medicinenet.com]

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