Progressive hemifacial atrophy

Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.



Input patient's signs and symptoms


Narrow down the case reports



Total: 173 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(61.0%)
19969487
Use of autologous fat graft for correction of facial asymmetry stemming from Parry-Romberg syndrome.
Avelar RL, Goelzer JG, Azambuja FG, de Oliveira RB, de Oliveira MP, Pase PF.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010;109(2):e20-5.
Facial asymmetry Hemiatrophy
Adult Facial Hemiatrophy Females Homo sapiens Subcutaneous Injections
1
(61.0%)
1654716
[Progressive facial hemiatrophy].
Naumbaev AN, Sharipov ASh, Iakhontov BV.
Zh Nevropatol Psikhiatr Im S S Korsakova. 1991;91(5):88-9.
Anosmia Hemiatrophy
Adult Facial Hemiatrophy Females Homo sapiens Myoclonic Epilepsy Native Hawaiian or Other Pacific Islander Racial Groups Scalp Dermatoses Skin Ulcer Tajikistan
3
(45.7%)
30739340
Botulinum toxin A for pain reduction in pediatric patients with Parry-Romberg syndrome.
Mishra K, Sood A, Smidt A, Price HN.
Pediatr Dermatol. 2019;36(2):223-226.
Seizure Hemiatrophy
PRS
Child Facial Hemiatrophy Facial Pain Females Homo sapiens Male
3
(45.7%)
30429134
Parry-Romberg syndrome in a patient with scleroderma.
Kuah CY, Koleva E, Gan JJL, Iqbal T.
BMJ Case Rep. 2018;2018:.
Headache Hemiatrophy
PRS
Dermatologic Agents Facial Hemiatrophy Females Homo sapiens Middle Aged
3
(45.7%)
29497540
(5782432)
Lower limb onset Parry-Romberg syndrome: an unusual presentation of a rare disease.
Jain RS, Kumar S, Srivastava T.
Oxf Med Case Reports. 2016;2016(8):omw031.
Hemiatrophy
PRS
3
(45.7%)
28193932
Localized Scleroderma (case Report of 23 Cases).
Reddy BS, Singh G.
Indian J Dermatol Venereol Leprol. 1982;48(5):276-281.
Hemiatrophy
3
(45.7%)
27761227
(5066105)
The Chronic Encephalopathy of Parry Romberg Syndrome and En Coupe De Sabre with a 31-Year-History in a West Indian Woman: Clinical, Immunologic and Neuroimaging Abnormalities.
Seegobin K, Abdool K, Ramcharan K, Dyaanand H, Rampersad F.
Neurol Int. 2016;8(3):6661.
Seizure Hemiatrophy
3
(45.7%)
27606027
(4991159)
Parry-Romberg syndrome with multiple intracranial cysts: A rare case report.
Gupta R, Patil H.
J Pediatr Neurosci. 2016;11(2):145-9.
Migraine Hemiatrophy
3
(45.7%)
27134435
(4832803)
Prosthetic rehabilitation of an orbital defect for a patient with hemifacial atrophy.
Shetty S, Mohammad F, Shetty R, Shenoy K.
J Indian Prosthodont Soc. 2016;16(1):91-5.
Hemiatrophy
3
(45.7%)
26335318
New and Successful Technique for the Management of Parry-Romberg Syndrome's Soft Tissue Atrophy.
Ortega VG, Sastoque D.
J Craniofac Surg. 2015;26(6):e507-10.
Hemiatrophy
Child Face Face Lift Facial Hemiatrophy Follow-Up Studies Homo sapiens Male Reconstructive Surgical Procedures Repeat Surgery
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000277 Abnormality of the mandible Very frequent (99-80%)
HP:0000324 Facial asymmetry Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0007400 Irregular hyperpigmentation Very frequent (99-80%)
HP:0001250 Seizures Frequent (79-30%)
HP:0003011 Abnormality of the musculature Frequent (79-30%)
HP:0008065 Aplasia/Hypoplasia of the skin Frequent (79-30%)
HP:0100555 Asymmetric growth Frequent (79-30%)
HP:0000490 Deeply set eye Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0001100 Heterochromia iridis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 47

HPO ID Term # of case reports
HP:0100556 Hemiatrophy 14
HP:0012344 Morphea 10
HP:0001250 Seizures 9
HP:0009125 Lipodystrophy 3
HP:0000324 Facial asymmetry 2
HP:0000646 Amblyopia 2
HP:0000752 Hyperactivity 2
HP:0001045 Vitiligo 2
HP:0001618 Dysphonia 2
HP:0002076 Migraine 2
HP:0002140 Ischemic stroke 2
HP:0002315 Headache 2
HP:0000218 High palate 1
HP:0000473 Torticollis 1
HP:0000486 Strabismus 1
HP:0000501 Glaucoma 1
HP:0000505 Visual impairment 1
HP:0000508 Ptosis 1
HP:0000565 Esotropia 1
HP:0000577 Exotropia 1
HP:0000589 Coloboma 1
HP:0000618 Blindness 1
HP:0000651 Diplopia 1
HP:0000667 Phthisis bulbi 1
HP:0000969 Edema 1
HP:0001089 Iris atrophy 1
HP:0001138 Optic neuropathy 1
HP:0001288 Gait disturbance 1
HP:0001332 Dystonia 1
HP:0002083 Migraine without aura 1
HP:0002171 Gliosis 1
HP:0002514 Cerebral calcification 1
HP:0003470 Paralysis 1
HP:0007209 Facial paralysis 1
HP:0008423 Spinal dysplasia 1
HP:0010614 Fibroma 1
HP:0010628 Facial palsy 1
HP:0012158 Carotid artery dissection 1
HP:0012444 Brain atrophy 1
HP:0012532 Chronic pain 1
HP:0012847 Epilepsia partialis continua 1
HP:0025584 Hypotropia 1
HP:0040078 Axonal degeneration 1
HP:0100242 Sarcoma 1
HP:0100543 Cognitive impairment 1
HP:0100660 Dyskinesia 1
HP:0200123 Chronic hepatitis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID