Showing papers on "Incontinentia pigmenti published in 2022"
TL;DR: Ophthalmic imaging is evolving in the evaluation of IP and is increasingly guiding treatment modalities as discussed by the authors , and a particular focus on the ocular manifestations of IP has been the ideal treatment for retinopathy in this disorder.
Abstract: Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications of IP is crucial to identify ocular abnormalities early and prevent permanent vision loss.There have been significant recent advances in ocular diagnostic imaging in IP. Optical coherence tomography (OCT) has helped characterize outer plexiform layer abnormalities in the macula, which can help explain central vision loss in IP patients. OCT angiography (OCT-A) also identifies macular vascular changes that induce these foveal structural abnormalities and may supplement fluorescein angiography, the current standard of care to identify peripheral retinal ischemia and neovascularization for infants with IP. Additionally, recent studies have presented excellent anatomic outcomes years after laser photocoagulation to ischemic retina. Early data indicates that antivascular endothelial growth factor therapy can induce retinal revascularization, but runs the risk of late recurrent neovascularization and requires long-term monitoring.Ophthalmic imaging is evolving in the evaluation of IP and is increasingly guiding treatment modalities. A particular focus on the ocular manifestations of IP has been the ideal treatment for retinopathy in this disorder.
3 citations
TL;DR: 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 with timely vitrectomy and laser photocoagulation.
Abstract: 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.
3 citations
TL;DR: This paper aims to report a case of IP with IAC, 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.
Abstract: 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 surgery-related 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.
2 citations
Journal Article•
01 Mar 2022TL;DR: Incontinentia pigmenti is a rare genodermatosis that almost exclusively affects females and is caused by a mutation of the nuclear factor-κB essential modulator (NEMO) gene in the Xq-28 locus of the X chromosome as discussed by the authors .
Abstract: Incontinentia pigmenti is a rare genodermatosis that almost exclusively affects females. The disease is caused by a mutation of the nuclear factor-κB essential modulator (NEMO) gene in the Xq-28 locus of the X chromosome. The disease can seriously affect various organs, most notably the central nervous system and eyes. Cutaneous manifestation in incontinentia pigmenti is often mild but is an important diagnostic criterion for the disease. Treatment of cutaneous symptoms of incontinentia pigmenti is often not needed because they can spontaneously resolve. However, it should be noted that early diagnosis through parameters such as cutaneous manifestations is important so that prompt diagnosis and intervention for other organs can be made to prevent further fatal complications in the future.
2 citations
TL;DR: The progress that has been made in IP is highlighted including the different types of mutations detected in various populations, current diagnostic strategies, IKBKG pathophysiology, genotype-phenotype correlation, and treatment strategies, which provide insights into understanding this rare mendelian disorder.
Abstract: Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known to be caused by recurrent deletion of exons 4–10 of the Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma (IKBKG) gene located at the Xq28 chromosomal region, which encodes for NEMO/IKKgamma, a regulatory protein involved in the nuclear factor kappa B (NF-κB) signaling pathway. NF-κB plays a prominent role in the modulation of cellular proliferation, apoptosis, and inflammation. IKBKG mutation that results in a loss-of-function or dysregulated NF-κB pathway contributes to the pathophysiology of IP. Aside from typical skin characteristics such as blistering rash and wart-like skin growth presented in IP patients, other clinical manifestations like central nervous system (CNS) and ocular anomalies have also been detected. To date, the clinical genotype-phenotype correlation remains unclear due to its highly variable phenotypic expressivity. Thus, genetic findings remain an essential tool in diagnosing IP, and understanding its genetic profile allows a greater possibility for personalized treatment. IP is slowly and gradually gaining attention in research, but there is much that remains to be understood. This review highlights the progress that has been made in IP including the different types of mutations detected in various populations, current diagnostic strategies, IKBKG pathophysiology, genotype-phenotype correlation, and treatment strategies, which provide insights into understanding this rare mendelian disorder.
2 citations
TL;DR: A case of an IKBKG gene deletion in a female infant presenting with a few blisters and erythema in her upper arms at birth was reported in this article .
Abstract: Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG/NEMO gene. IP is mostly lethal in males in utero, and only very rare male cases with a somatic mosaic mutation or a 47,XXY karyotype have been reported.We here report a case of an IKBKG gene deletion in a female infant presenting with a few blisters and erythema in her upper arms at birth. MLPA analysis revealed a rare 94 kb deletion in this patient, encompassing the IKBKG gene and IKBKGP pseudogene. PCR analysis indicated the presence of Alu elements at both ends of the deletion, suggesting non-allelic homologous recombination as an underlying mechanism. Notably, a low-level mosaic deletion was identified in her father's peripheral blood leukocytes by PCR, suggesting a rare father-to-daughter transmission of IP.In family studies for an apparently sporadic IP case, parental analysis that includes the father is recommended due to the possibility of male mosaicism.
2 citations
TL;DR: OCT angiography detects vascular abnormalities in incontinentia pigmenti not apparent on fluorescein angiograph, and therefore may serve as a helpful tool to detect early macular ischemia in children during examination under anesthesia as discussed by the authors .
2 citations
TL;DR: Establishing precise diagnostic criteria for as many rare diseases as possible and establishing a publicly accessible database of rare diseases with a search possibility according to phenotypic abnormalities and genetic mutations would greatly facilitate and speed up the establishment of an accurate diagnosis.
Abstract: Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a late diagnosis of a proband initially diagnosed with West syndrome, later revealed to be caused by Incontinentia pigmenti (IP). Furthermore, 20 years later, it was discovered that the proband was also a carrier of a heterozygous GBA gene mutation. The methods used in diagnostics were as follows: IKBKG gene analysis, the X-chromosome inactivation assay, analyses of the genes relevant for neurodegeneration, WES analysis, analysis of biochemical parameters typical for Gaucher disease (GD), and autoantibodies including IFN-α2a and IFN-ω. To avoid overlooking IP and other possible rare disease diagnoses, carefully searching for dermatological signs in these conditions is recommended. It is important that the diagnostic criteria are based on quality and extensive data from multiple studies of each rare disease. Establishing precise diagnostic criteria for as many rare diseases as possible and establishing a publicly accessible database of rare diseases with a search possibility according to phenotypic abnormalities and genetic mutations would greatly facilitate and speed up the establishment of an accurate diagnosis.
1 citations
TL;DR: Incontinentia pigmenti (IP) is a rare X-linked disorder caused by a mutation in the nuclear factor-κB essential modulator (NEMO) gene that affects ectodermal tissues, including the skin, hair, eyes, teeth, and the central nervous system as mentioned in this paper .
Abstract: Incontinentia pigmenti (IP) is a rare X-linked disorder caused by a mutation in the nuclear factor-κB essential modulator (NEMO) gene that affects ectodermal tissues, including the skin, hair, eyes, teeth, and the central nervous system. IP can be associated with alopecia, often on the vertex scalp, presenting in a diffuse or whorled pattern, or involving eyebrows and eyelashes, in up to 67% of patients.1,2 IP-associated alopecia has been suggested as scarring in nature, although the specifics of the alopecia seen in this setting are poorly addressed in the literature.
1 citations
TL;DR: It should be noted that early diagnosis through parameters such as cutaneous manifestations is important so that prompt diagnosis and intervention for other organs can be made to prevent further fatal complications in the future.
Abstract: Incontinentia pigmenti is a rare genodermatosis that almost exclusively affects females. The disease is caused by a mutation of the nuclear factor-κB essential modulator (NEMO) gene in the Xq-28 locus of the X chromosome. The disease can seriously affect various organs, most notably the central nervous system and eyes. Cutaneous manifestation in incontinentia pigmenti is often mild but is an important diagnostic criterion for the disease. Treatment of cutaneous symptoms of incontinentia pigmenti is often not needed because they can spontaneously resolve. However, it should be noted that early diagnosis through parameters such as cutaneous manifestations is important so that prompt diagnosis and intervention for other organs can be made to prevent further fatal complications in the future.
1 citations
TL;DR: Two cases of Rothmund-Thomson syndrome are presented, emphasizing its clinical and dermatological characteristics, and it is concluded that atrophy is characterized by atrophy.
Abstract: BACKGROUND
Rothmund-Thomson syndrome, also known as congenital poikiloderma, is a rare autosomal recessive genodermatosis with onset in early childhood that affects at a multisystem level.
CASE REPORTS
Case 1. A 4-year-old male patient, consanguineous parents, 26-year-old brother with a probable diagnosis of Rothmund-Thompson syndrome. He presented with adactyly of the right thumb, hypoplasia of the left thumb, delayed growth and psychomotor development. At 3 months, he presented rough, dry, sparse hair and erythematous lesions on the face, leaving hyperpigmented and hypopigmented spots with a reticulated pattern. We detected hypoacusis, skeletal alterations, narrow chin, short stature, severe malnutrition, and chronic and asymptomatic hypodontia. Genetic sequencing showed a mutation for the RECQL4 gene, for which a multidisciplinary follow-up was provided by the genetics, gastroenterology, nutrition, endocrinology, stomatology, audiology, orthopedics, rehabilitation, ophthalmology and oncology services. Case 2. A 2-year-old female patient presented facial erythema that spread to the arms and legs at 3 months; skin biopsy showed poikiloderma. She was evaluated by the endocrinology service and followed up for short stature and hypogonadism. A genetic study was not performed.
CONCLUSIONS
Rothmund-Thomson syndrome is characterized by atrophy. Only a few cases are reported in the literature. We present two cases of Rothmund-Thomson syndrome, emphasizing its clinical and dermatological characteristics.
TL;DR: In this paper , the authors described a Turkish family with Incontinentia pigmenti (IP) and identified DNA variant c.172_173delAA (p.Asn58SerfsTer79) in IKBKG.
TL;DR: number of factors, including the body site affected, but may include the following: osteomyelitis, cutaneous tuberculosis (scrofuloderma), atypical mycobacterial infection, botryomycosis, sporotrichosis and cutaneous leishmaniasis.
Abstract: number of factors, including the body site affected, but may include the following: osteomyelitis, cutaneous tuberculosis (scrofuloderma), atypical mycobacterial infection, botryomycosis, sporotrichosis and cutaneous leishmaniasis. Mini-mycetoma in particular may be confused with skin cancer or benign lesions such as a cyst or abscess. Dermoscopy can help to differentiate these. Mycetoma is endemic in tropical countries belonging to the ‘mycetoma belt’, between latitudes 15°S and 30°N. Infection cannot be acquired in the UK, but the condition may be encountered in patients entering the UK from an endemic country. It is therefore important for clinicians to understand the epidemiology of the disease and be able to recognize the clinical features. The diagnosis can be confirmed easily by direct examination, allowing treatment to be initiated. The predominant species causing actinomycetomas is Nocardia brasiliensis; however, this case was caused by N. asteroides, which is more often a cause of nocardiosis, an opportunistic infection without tissue grains. Actinomycetoma due to Nocardia spp. frequently responds well to prolonged antibiotic therapy; however, for eumycetoma, the response to antifungal agents is less favourable and surgery is often required.
TL;DR: Incontinentia pigmenti is eine seltene X−chromosomal dominant vererbte Systemerkrankung, die vor allem die Haut, aber auch andere neuroektodermale Gewebe wie Zähne, Haare, Augen und das zentrale Nerven system betrifft as mentioned in this paper .
Abstract: Incontinentia pigmenti ist eine seltene X‐chromosomal dominant vererbte Systemerkrankung, die vor allem die Haut, aber auch andere neuroektodermale Gewebe wie Zähne, Haare, Augen und das zentrale Nervensystem betrifft.
01 Aug 2022
TL;DR: Incontinentia pigmenti (IP) is a rare systemic disease of x-linked dominant inheritance associated with abnormalities of the retina microvasculature as discussed by the authors , and the recent development of optical coherence tomography angiography (OCT-A) permits non-invasive, quantitative analysis of the retinal vascular architecture.
Abstract: Incontinentia pigmenti (IP) is a rare systemic disease of x-linked dominant inheritance associated with abnormalities of the retina microvasculature. The recent development of optical coherence tomography angiography (OCT-A) permits non-invasive, quantitative analysis of the retinal vascular architecture. We aimed to characterise the retinal vasculature and structure at the macular region in patients with IP.
TL;DR: Dermoscopy of all four stages is very specific compared to the dermoscopy of inflammatory dermatoses and pigmentations and may be crucial as a quick tool in revealing potential IP gene carriers.
Abstract: Introduction Incontinentia pigmenti (IP) is a rare X-linked geno-dermatosis characterized by numerous findings. Skin biopsy and histopathological analysis are considered as minor criteria for the diagnosis of IP. We assume that dermoscopy can assist the earlier diagnosis of IP. Objectives To gain experience in earlier diagnosis of IP by observing dermoscopic findings of cutaneous changes. Methods We revised confirmed cases of IP and examined them using dermoscopy, comparing histopathological and dermoscopic results. Results Stage I presented solitary and grouped vesicles in linear arrangement on erythematous skin. Early stage II presented star-shaped verrucous lesions on erythematous or pigmented skin. In well-developed lesions, dotted vessels surround keratotic part, some with thrombosed capillaries, resembling a viral wart. Stage III presented linear brown dots on the pigmented areas. Dermoscopic image was uniform in all the examined pigmented Blaschko linear changes. Stage IV presented numerous dotted vessels on the hypopigmented skin. Terminal hair was scarce or absent in all four stages. The surrounding normal skin had perifollicular depigmentations in stages III and IV. Conclusions Dermoscopy of all four stages is very specific compared to the dermoscopy of inflammatory dermatoses and pigmentations. Stage III has very close clinical, histological and dermoscopic mimickers and needs to be carefully examined with obligatory genetic testing. Dermoscopy of the stage IV closely corresponds to histopathological findings and may be crucial as a quick tool in revealing potential IP gene carriers. Dermoscopy should be used in addition to clinical examination since the two methods are complementary.
TL;DR: Peng, Jie MD*, Zou, Yihua MD*, Zhang, Xiang MD*; Si, Dayong PhD†; Xu, Yu MD, PhD*; Zhao, Peiquan MD, MD* Author Information as mentioned in this paper
Abstract: Peng, Jie MD*; Zou, Yihua MD*; Zhang, Xiang MD*; Si, Dayong PhD†; Xu, Yu MD, PhD*; Zhao, Peiquan MD, PhD* Author Information
18 Sep 2022
TL;DR: In this article , the authors report macular neurovascular abnormalities in a child with incontinentia pigmenti using handheld OCT and OCT angiography (OCT-A).
Abstract: Purpose: To report macular neurovascular abnormalities in a child with incontinentia pigmenti using handheld optical coherence tomography (OCT) and OCT angiography (OCT-A). Methods: An eye of a child with incontinentia pigmenti enrolled in BabySTEPS was imaged using an investigational noncontact, handheld swept-source OCT device during examination under anesthesia. Custom MATLAB scripts were used to generate depth-resolved vascular slabs, B-scans with flow overlay, and retinal thickness maps. Results: Depth-resolved OCT and OCT-A imaging demonstrated focal areas of decreased capillary flow that corresponded to areas of both inner retinal and outer retinal thinning on retinal thickness maps. Atypical diving of superficial retinal vessels occurred as they traversed from thin retina to normal-thickness retina. Conclusion: Depth-resolved OCT and OCT-A identified retinal vascular abnormalities that were not evident on fundus photography or fluorescein angiography. This case depicted concurrent, localized abnormalities in retinal thickness and microvasculature in an eye with incontinentia pigmenti.
TL;DR: In this paper , a 3-day-od baby girl was consulted by the Pediatric department with complaints of blisters and erythematous rashes on almost her entire body with the Blaschko line distribution.
Abstract: Background: Incontinentia pigmenti (IP) is a rare X-linked dominant inherited genodermatosis that occurs almost in females and is usually accompanied by other ectodermal tissue diseases such as the central nervous system, eyes, hair, nails, teeth and skeletal system. This case report aims to enhance understanding of incontinentia pigmenti and provide appropriate treatment to patients and proper education to families.
Case report: A 3-days-od baby girl was consulted by the Pediatric department with complaints of blisters and erythematous rashes on almost her entire body with the Blaschko line distribution. The nails on the right and left big toes appeared inward. No history of fever and seizure. No family had similar complaints. There were no eye and nerve abnormalities involved. She treated with hydrocortisone 1% cream every 12 hours on erythematous papules and vesicles, open compresses with 0.9% NaCl every 8 hours for 10-15 minutes on lesions with yellowish crusts. Thus, the patient diagnosed with incontinentia pigmenti.
Conclusion: The diagnosis of incontinentia pigmenti is based on history and physical examination. This case is very rare, so the family needs to understand the course of this disease. Appropriate management and education can prevent secondary infection.
31 Dec 2022
TL;DR: In this paper , a review of the Incontinentia pigmenti and Norrie disease, which are pediatric retinal vascular diseases, are investigated in detail, and patients can apply to the clinic with nystagmus, leukocoria, microphthalmia, and retinal detachment at an early age.
Abstract: Incontinentia pigmenti is a very rare X-linked dominant inherited disease characterized by skin lesions, retinal pathologies, central nervous system anomalies, and dental problems. Norrie disease is a very rare X-linked recessive inherited disease characterized by severe vitreoretinal dysplasia in both eyes at birth. In both diseases, patients can apply to the clinic with nystagmus, leukocoria, microphthalmia, and retinal detachment at an early age. In this review, Incontinentia pigmenti and Norrie disease, which are pediatric retinal vascular diseases, are investigated in detail.
TL;DR: A case of a female newborn with inflammatory vesiculopustular lesions all over the body and this baby also had ocular, and CNS manifestations as well.
Abstract: Incontinentia Pigmenti (IP) is an uncommon X-linked genodermatosis, with an estimated prevalence at birth of 0.7/100,000, caused by mutations in the NEMO gene. Ectodermic and mesodermic origin of tissue is seen in this systemic disease including cutaneous tissue, teeth, eyes, and the central nervous system. Herein, we present a case of a female newborn with inflammatory vesiculopustular lesions all over the body. This baby also had ocular, and CNS manifestations as well. The importance of a detailed diagnostic workup for the newborns with pustular skin disease has been highlighted in this case. IP is a rare, x-linked dominant genodermatosis with the involvement of multiple organs. Dermatological abnormalities are the most prominent manifestation. The diagnosis is based on the clinical findings of skin lesion brain imaging and biopsy. The skin lesions do not require specific treatment and prognosis depend on other organ involvement.
09 Sep 2022
TL;DR: Wang et al. as mentioned in this paper performed a retrospective descriptive analysis using the clinical, blood analytical, pathological, radiological, genetic, and follow-up data of neonatal patients diagnosed with IP from 2010 to 2021.
Abstract: Abstract Introduction: Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disease that affects ectodermal tissue and is often misdiagnosed in the neonatal period. This study aimed to highlight the sequential clinical features and evaluate the prognosis of 32 neonatal IP patients. Materials and methods A retrospective descriptive analysis was performed using the clinical, blood analytical, pathological, radiological, genetic, and follow-up data of neonatal patients diagnosed with IP from 2010 to 2021 in Xi’an, China. Results Of the 32 patients, two (6.25%) were male. Thirty patients (93.75%) had eosinophilia (eosinophilic granulocyte count: 0.31-19.9⋅10 9 , mean proportion of white blood cells: 20.98 ± 15.21%). Twenty patients (62.5%) had thrombocytosis (thrombocyte count: 139–975⋅10 9 , mean count: 416.76 ± 176.82). Thirty-one patients (96.88%) exhibited the first three cutaneous lesions, characterised by erythema and superficial vesicles on inflammatory bases, in a linear distribution in the first week of age. Thirteen patients (40%) had combined nervous system abnormalities, and nine patients (28.13%) had retinopathy. Twelve patients (37.5%) had a molecular diagnosis and two types of genetic variants were detected in NEMO . Nineteen patients were followed up ranging from after 1 to 44 months. At follow-up, four patients displayed psychomotor retardation, and five patients developed a decrease in vision with astigmatism and amblyopia. Conclusion Thirty patients had eosinophilia, and twenty patients had thrombocytosis. Therefore, we speculate that the mechanism of injury and occlusion in microvessels may be related to platelet aggregation based on the increase in eosinophil cells and the release of inflammatory factors.