“…There is no difference in the probability of left or right facial involved. The disease can continue to progress for 7–9 years (the active phase) and then enters the stable phase, which often affects the development of the face and head [ 7 ].…”
Background
Parry-Romberg syndrome (PRS) is a rare progressive degenerative disorder of unknown etiology. Here we report a rare case of PRS combined with lens subluxation in Eye and ENT hospital of Fudan University, Shanghai. To our knowledge, it is the first reported case of PRS combined with lens subluxation that has been managed surgically with phacoemulsification and CTR placement and IOL implantation in Shanghai.
Case presentation
A 60-year-old woman was referred for “right visual blur for 2 years” and had persistent right facial paralysis of unknown etiology since the age 12. She had right facial muscle atrophy and paralysis. Eye examination also showed the right eyelid pseudoptosis, enophthalmos, age-related cataract combined with lens subluxation existed in the right eye. The patient was diagnosed as age-related cataract and lens subluxation in the right eye and progressive hemifacial atrophy (Parry-Romberg syndrome). We conducted a combined phacoemulsification, IOL and CTR implantation and pupilloplasty surgery for the patient under general anesthesia and the postoperative UCVA was 20/30 and remained for 1 year’s follow up.
Conclusions
Here we reported a rare case of PHA combined with lens subluxation in China. After appropriate eye surgery, the patient achieved satisfying vision result in the right eye.
“…There is no difference in the probability of left or right facial involved. The disease can continue to progress for 7–9 years (the active phase) and then enters the stable phase, which often affects the development of the face and head [ 7 ].…”
Background
Parry-Romberg syndrome (PRS) is a rare progressive degenerative disorder of unknown etiology. Here we report a rare case of PRS combined with lens subluxation in Eye and ENT hospital of Fudan University, Shanghai. To our knowledge, it is the first reported case of PRS combined with lens subluxation that has been managed surgically with phacoemulsification and CTR placement and IOL implantation in Shanghai.
Case presentation
A 60-year-old woman was referred for “right visual blur for 2 years” and had persistent right facial paralysis of unknown etiology since the age 12. She had right facial muscle atrophy and paralysis. Eye examination also showed the right eyelid pseudoptosis, enophthalmos, age-related cataract combined with lens subluxation existed in the right eye. The patient was diagnosed as age-related cataract and lens subluxation in the right eye and progressive hemifacial atrophy (Parry-Romberg syndrome). We conducted a combined phacoemulsification, IOL and CTR implantation and pupilloplasty surgery for the patient under general anesthesia and the postoperative UCVA was 20/30 and remained for 1 year’s follow up.
Conclusions
Here we reported a rare case of PHA combined with lens subluxation in China. After appropriate eye surgery, the patient achieved satisfying vision result in the right eye.
“…Idiopathic hemifacial atrophy or Parry-Romberg Syndrome (PRS) is a rare neurocutaneous disorder characterized by the loss of subcutaneous fat of face, muscles, and bones causing unilateral atrophy. 1 Numerous PRS treatment options are available, ranging from medical treatments to surgical techniques.…”
Section: E T T E R S T O T H E E D I T O R Idiopathic Hemifacial Atro...mentioning
confidence: 99%
“…Case (1): A 17-year-old female patient, presented to our dermatology clinic for the correction of facial hemiatrophy on the right side of the face. She had suffered from progressive symptoms since 2 ago.…”
Section: E T T E R S T O T H E E D I T O R Idiopathic Hemifacial Atro...mentioning
“…[1,2] First reported in 1825 by Parry and codified as Parry-Romberg syndrome in 1846 by Romberg, [3,4] the current name of this condition (PHA) was first proposed in 1871 by Enlenburg. [5,6] The disease is characterized by onset in the first or second decade, and the number of female patients was approximately twice as much as that of male. [7] Current published estimates suggest that PHA affects approximately 1 in 700,000 individuals.…”
Background:
Progressive hemifacial atrophy (PHA) is a rare and progressive condition of unknown etiology that is characterized by chronic progressive atrophy of the skin, subcutaneous tissue, muscle, and bone on 1 side of the face. However, its precise pathogenesis remains poorly understood.
Case presentation:
Here, we report a case of PHA, which manifested as left-sided facial atrophy. Whole-exome sequencing of peripheral blood samples from the patient and his parents, together with bioinformatics analyses, led to the identification of mutations in ARHGAP4 and CFAP47.
Conclusion:
This report is the first to describe ARHGAP4 and CFAP47 mutations in a patient with PHA. These mutations may be related to the occurrence of hemifacial atrophy, although further studies are needed to clarify the role of ARHGAP4 and CFAP47 in the context of PHA pathogenesis.
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