BACKGROUND Incontinentia pigmenti(IP)is a rare X-linked genetic disease.It mainly manifests as skin lesions and causes problems in the eyes,teeth,bones,and central nervous system.Of the various ocular manifestations,t...BACKGROUND Incontinentia pigmenti(IP)is a rare X-linked genetic disease.It mainly manifests as skin lesions and causes problems in the eyes,teeth,bones,and central nervous system.Of the various ocular manifestations,the most severe with difficult recovery is retinal detachment(RD).Here,we report an unusual case of bilateral asymmetrical RD.CASE SUMMARY We present the case of an 11-year-old Chinese girl with IP who complained of sudden blurring of vision in the left eye.At that time,she had been blind in her right eye for 4 years.RD with traction was observed in both eyes.A massive retinal proliferative membrane,exudation,and hemorrhage were seen in the left eye.We performed vitrectomy in her left eye.Her visual acuity recovered to 20/50,and her retina had flattened within 2 d after surgery.During the 3-mo follow-up,we performed retinal laser treatment of the non-perfused retinal area in her left eye.Eventually,her visual acuity returned to 20/32,and no new retinal abnormalities developed.CONCLUSION In patients with IP with fundal abnormalities in one eye,it is important to focus on the rate of fundal change in the other eye.RD in its early stages can be effectively treated with timely vitrectomy and laser photocoagulation.展开更多
BACKGROUND Incontinentia pigmenti(IP)is a rare X-linked dominant genetic disorder that can be fatal in male infants.It is a disease that affects many systems of the human body.In addition to characteristic skin change...BACKGROUND Incontinentia pigmenti(IP)is a rare X-linked dominant genetic disorder that can be fatal in male infants.It is a disease that affects many systems of the human body.In addition to characteristic skin changes,patients may also have pathological features of the eyes,teeth,and central nervous system.Therefore,the lesions in these systems may be the first symptoms for which patients seek treatment.To date,no cases of IP complicated by intracranial arachnoid cyst(IAC)have been reported.This paper aims to report a case of IP with IAC in order to share the diagnosis and treatment experience of this rare case with other clinicians.CASE SUMMARY An 11-year-old female patient suffered intermittent limb convulsions for five months and was sent to hospital.In the initial stage,the patient was considered to have primary epilepsy.Further investigation of the patient's medical history,physical examination and imaging examination led to the diagnosis of IP combined with intracranial space-occupying lesions,and secondary epilepsy.The patient was treated with craniotomy,and postoperative pathology revealed an IAC.The patient recovered well after craniotomy and had no obvious surgeryrelated complications.During the follow-up period,the patient did not have recurrent epilepsy symptoms.CONCLUSION IP is a multi-system disease that presents with typical skin lesions at birth,but the long-term prognosis of this disease depends on the involvement of systems other than the skin,especially nervous system and ocular lesions.展开更多
Hypomelanosis of Ito (HI) is a rare neurocutaneous disorder most likely caused by chromosomal mosaicism. HI patients may suffer from numerous clinical manifestations, but the expression of the disease is highly variab...Hypomelanosis of Ito (HI) is a rare neurocutaneous disorder most likely caused by chromosomal mosaicism. HI patients may suffer from numerous clinical manifestations, but the expression of the disease is highly variable. Ophthalmologic, musculoskeletal, neurologic, and dental anomalies may be associated with the syndrome. The dental abnormalities found in HI include talon cusps, a single maxillary central in-cisor, enamel defects, hypodontia, and irregularly spaced teeth. The aim of this case report is to present multiple talon cusps, dens in dente and concrescence of maxillary permanent incisors in an 8-year-old boy affected with hypomelanosis of Ito. This unusual dental anomaly has been described in two previous reports of this neurocutaneous syndrome. HI can be difficult to diagnose, these dental findings may help to identify the syndrome in cases where other findings are minimal or atypical.展开更多
文摘BACKGROUND Incontinentia pigmenti(IP)is a rare X-linked genetic disease.It mainly manifests as skin lesions and causes problems in the eyes,teeth,bones,and central nervous system.Of the various ocular manifestations,the most severe with difficult recovery is retinal detachment(RD).Here,we report an unusual case of bilateral asymmetrical RD.CASE SUMMARY We present the case of an 11-year-old Chinese girl with IP who complained of sudden blurring of vision in the left eye.At that time,she had been blind in her right eye for 4 years.RD with traction was observed in both eyes.A massive retinal proliferative membrane,exudation,and hemorrhage were seen in the left eye.We performed vitrectomy in her left eye.Her visual acuity recovered to 20/50,and her retina had flattened within 2 d after surgery.During the 3-mo follow-up,we performed retinal laser treatment of the non-perfused retinal area in her left eye.Eventually,her visual acuity returned to 20/32,and no new retinal abnormalities developed.CONCLUSION In patients with IP with fundal abnormalities in one eye,it is important to focus on the rate of fundal change in the other eye.RD in its early stages can be effectively treated with timely vitrectomy and laser photocoagulation.
基金Supported by the National Science Fund Subsidized Project,No.81971085。
文摘BACKGROUND Incontinentia pigmenti(IP)is a rare X-linked dominant genetic disorder that can be fatal in male infants.It is a disease that affects many systems of the human body.In addition to characteristic skin changes,patients may also have pathological features of the eyes,teeth,and central nervous system.Therefore,the lesions in these systems may be the first symptoms for which patients seek treatment.To date,no cases of IP complicated by intracranial arachnoid cyst(IAC)have been reported.This paper aims to report a case of IP with IAC in order to share the diagnosis and treatment experience of this rare case with other clinicians.CASE SUMMARY An 11-year-old female patient suffered intermittent limb convulsions for five months and was sent to hospital.In the initial stage,the patient was considered to have primary epilepsy.Further investigation of the patient's medical history,physical examination and imaging examination led to the diagnosis of IP combined with intracranial space-occupying lesions,and secondary epilepsy.The patient was treated with craniotomy,and postoperative pathology revealed an IAC.The patient recovered well after craniotomy and had no obvious surgeryrelated complications.During the follow-up period,the patient did not have recurrent epilepsy symptoms.CONCLUSION IP is a multi-system disease that presents with typical skin lesions at birth,but the long-term prognosis of this disease depends on the involvement of systems other than the skin,especially nervous system and ocular lesions.
文摘Hypomelanosis of Ito (HI) is a rare neurocutaneous disorder most likely caused by chromosomal mosaicism. HI patients may suffer from numerous clinical manifestations, but the expression of the disease is highly variable. Ophthalmologic, musculoskeletal, neurologic, and dental anomalies may be associated with the syndrome. The dental abnormalities found in HI include talon cusps, a single maxillary central in-cisor, enamel defects, hypodontia, and irregularly spaced teeth. The aim of this case report is to present multiple talon cusps, dens in dente and concrescence of maxillary permanent incisors in an 8-year-old boy affected with hypomelanosis of Ito. This unusual dental anomaly has been described in two previous reports of this neurocutaneous syndrome. HI can be difficult to diagnose, these dental findings may help to identify the syndrome in cases where other findings are minimal or atypical.
