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Current Medical Imaging 2021McCune-Albright Syndrome (MAS) is a genetic disorder with a triad of endocrine diseases, café-au-lait macules and fibrous dysplasias. Craniofacial fibrous dysplasia is... (Review)
Review
BACKGROUND
McCune-Albright Syndrome (MAS) is a genetic disorder with a triad of endocrine diseases, café-au-lait macules and fibrous dysplasias. Craniofacial fibrous dysplasia is a term that is used to describe the fibrous dysplasia, which was localized at the craniofacial skeleton and is common in MAS patients.
OBJECTIVE
The objective of this review is to determine the involvement frequency of cranial and facial bones in patients with MAS and CFD.
METHODS
Articles in PubMed was searched with the following details "(mccune[Title/Abstract] OR albright[Title/Abstract]) OR ("craniofacial fibrous dysplasia"[MeSH Terms] OR ("craniofacial"[ All Fields] AND "fibrous"[All Fields] AND "dysplasia"[All Fields]) OR "craniofacial fibrous dysplasia"[All Fields])". The articles in which the authors did not state the involved bones or did not add any radiographic images were excluded from the study.
RESULTS
26 cases in 25 articles met the inclusion criteria. Among the 26 cases and our case, sphenoid and frontal bones were involved in 17 cases, parietal and occipital bones were involved in 15 cases, mandible and ethmoid bone were involved in 14 cases, maxilla-zygoma-temporal and palate was involved in 13, 11, 6 and 3 cases, respectively. Palate was involved in cases where maxilla was also involved. Our case was the only case that was evaluated with CBCT.
CONCLUSION
Routine follow-ups are important since new CFDs can occur in different cranial or facial bones. 2D imaging techniques may not be able to demonstrate early CFDs; thus, an advanced imaging technique should be used after MAS diagnosis.
Topics: Craniofacial Fibrous Dysplasia; Facial Bones; Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; Humans; Sphenoid Bone
PubMed: 33297918
DOI: 10.2174/1573405616666201209102418 -
American Journal of Respiratory and... Nov 2019Lethal lung developmental disorders are a rare but important group of pediatric diffuse lung diseases presenting with neonatal respiratory failure. On the basis of... (Review)
Review
Lethal lung developmental disorders are a rare but important group of pediatric diffuse lung diseases presenting with neonatal respiratory failure. On the basis of histopathological appearance at lung biopsy or autopsy, they have been termed: alveolar capillary dysplasia with misalignment of the pulmonary veins, acinar dysplasia, congenital alveolar dysplasia, and other unspecified primary pulmonary hypoplasias. However, the histopathological continuum in these lethal developmental disorders has made accurate diagnosis challenging, which has implications for recurrence risk. Over the past decade, genetic studies in infants with alveolar capillary dysplasia with misalignment of the pulmonary veins have revealed the causative role of the dosage-sensitive gene and its noncoding regulatory variants in the distant lung-specific enhancer at chromosome 16q24.1. In contrast, the molecular bases of acinar dysplasia and congenital alveolar dysplasia have remained poorly understood. Most recently, disruption of the TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling pathway has been reported in patients with these lethal pulmonary dysplasias. Application of next-generation sequencing techniques, including exome sequencing and whole-genome sequencing, has demonstrated their complex compound inheritance. These data indicate that noncoding regulatory elements play a critical role in lung development in humans. We propose that for more precise lethal lung developmental disorder diagnosis, a diagnostic pathway including whole-genome sequencing should be implemented.
Topics: Humans; Lung; Lung Diseases
PubMed: 31189067
DOI: 10.1164/rccm.201903-0495TR -
Current Osteoporosis Reports Aug 2017Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we... (Review)
Review
PURPOSE OF REVIEW
Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition.
RECENT FINDINGS
Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series. Melorheostosis affects the appendicular skeleton more commonly than the axial skeleton and usually presents with lower limb deformity. Diagnosis is based on a combination of clinical and radiological features that help differentiate this condition from other sclerosing bone dysplasias. LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly correlated with other hereditary dysplasias, such as osteopoikilosis, and are not thought to be the causative gene for melorheostosis. The exact etiology of classic sporadically occurring melorheostosis remains unknown, with possible causes being somatic LEMD3 mutations, somatic mutations in the bone morphogenetic protein/transforming growth factor-beta pathway, mutations in multiple genes, or other non-genetic causes. Management in recent years has involved nitrogen-containing bisphosphonates in addition to traditional orthopedic surgical approaches and physical therapy. Melorheostosis may present as mixed or atypical osseous involvement in addition to the classically described "dripping candle wax" appearance of hyperostosis. Some patients may have overlap with osteopoikilosis or Buschke-Ollendorff syndrome. In the future, better characterization of genetic and developmental factors predisposing to melorheostosis may lead to the development of targeted therapy for this condition, as well as for more commonly encountered skeletal abnormalities.
Topics: Bone and Bones; DNA-Binding Proteins; Humans; Joint Capsule Release; Melorheostosis; Membrane Proteins; Mutation; Nuclear Proteins; Osteotomy; Pain Management; Radiography; Rare Diseases; Tenotomy
PubMed: 28676968
DOI: 10.1007/s11914-017-0375-y -
Indian Dermatology Online Journal 2024Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat... (Review)
Review
Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands. Alhough they were earlier classified according to the structures affected and hence the clinical manifestations, recent developments inch towards a genetic basis for classification. They are currently divided into four groups of disorders based on the pathway involved, which includes the ectodysplasin/nuclear factor-kappa B (NFKB) pathway, wingless-type MMTV integration site family, member 10 ([wingless related integration site] WNT10), tumor protein p63 (TP63), and the structural group. In spite of attempts at the segregation of the various disorders, there is a great degree of overlap in clinical features among the conditions, which makes a thorough history-taking and clinical examination important in helping us arrive at a diagnosis and judge the various systems involved. A multidisciplinary approach forms the crux of the management of patients with ectodermal dysplasias and their families, with a focus on education, counseling, prosthesis, and an overall rehabilitative outlook. Special attention must also be paid to screening family members for varying severities of the disorders, and an attempt must be made at a genetic diagnosis with genetic counseling.
PubMed: 38845644
DOI: 10.4103/idoj.idoj_599_23 -
Medicina Oral, Patologia Oral Y Cirugia... Jul 2022Actinic cheilitis is a potentially malignant lesion most commonly found in the lower lip of individuals with chronic exposure to ultraviolet radiation. The aim of this...
BACKGROUND
Actinic cheilitis is a potentially malignant lesion most commonly found in the lower lip of individuals with chronic exposure to ultraviolet radiation. The aim of this study was to develop and to test a clinical index that can be used to assess the severity of actinic cheilitis.
MATERIAL AND METHODS
The clinical index of actinic cheilitis was applied to 36 patients. An incisional biopsy was obtained to grade oral epithelial dysplasias following the World Health Organization (WHO) and binary systems, and to evaluate their association with clinical characteristics by Fisher's exact test (P<0.05). The accuracy of the index was evaluated based on sensitivity, specificity, positive and negative predictive values, and receiver operating curve.
RESULTS
The blurring between the border of the lip and the skin was significantly associated with cases without dysplasia/mild epithelial dysplasia (P=0.041) and with low risk of malignancy (P=0.005). Ulcers and crusts were significantly associated with moderate/severe epithelial dysplasia (P=0.002 and P=0.012, respectively) and high risk of malignancy (P=0.005 and P=0.045, respectively). Erosion showed a significant association only with high-risk cases of malignancy (P=0.024). The cut-off values of the diagnostic test showing the best performance were 10 for the WHO grading system and 11 for the binary system.
CONCLUSIONS
The index cut-offs with the highest accuracy were considered indicators for a biopsy. Erosion, ulceration and crusts were associated with more severe oral epithelial dysplasias.
Topics: Cheilitis; Humans; Hyperplasia; Lip; Lip Neoplasms; Ultraviolet Rays
PubMed: 35660729
DOI: 10.4317/medoral.25243 -
Der Hautarzt; Zeitschrift Fur... Feb 2021Human papillomavirus (HPV) infections belong to the most frequent viral infections. Besides benign common warts and benign and malignant lesions of the head and neck... (Review)
Review
Human papillomavirus (HPV) infections belong to the most frequent viral infections. Besides benign common warts and benign and malignant lesions of the head and neck area, HPV can induce anogenital dysplasias and cancers. Since the year 2007, effective and safe prophylactic HPV vaccines are licensed in Europe. To date, a bivalent (HPV16 and 18) and a nonavalent HPV vaccine (HPV6, 11, 16, 18, 31, 33, 45, 52, and 58) are commercially available in Germany. The German standing committee on vaccination (STIKO) currently recommends gender-neutral prophylactic HPV-vaccination between 9 and 14 years of age, with the possibility of catch-up vaccination until the age of 17 years. Besides a large proportion of HPV-induced anogenital dysplasias and carcinomas, the nonavalent HPV vaccine also prevents anogenital warts. Iatrogenically immunocompromised patients older than 17 years of age should also receive prophylactic HPV vaccination, preferrably by the age of 26 years. In case of already acquired HPV infection or existing HPV-induced lesions prophylactic vaccination does not lead to accelerated HPV elimination or clearance of lesions.
Topics: Adolescent; Adult; Condylomata Acuminata; Europe; Germany; Humans; Papillomavirus Infections; Papillomavirus Vaccines; Vaccination
PubMed: 33337514
DOI: 10.1007/s00105-020-04739-4 -
Swiss Dental Journal 2015Ectodermal dysplasias (EDs) form a large clinically and genetically heterogeneous group of manifestations characterized by dystrophy or agenesis of embryologic...
Ectodermal dysplasias (EDs) form a large clinically and genetically heterogeneous group of manifestations characterized by dystrophy or agenesis of embryologic ectodermal derivatives. Therefore skin, nails, hair, teeth and secretory organs are mainly affected. Hypohidrotic ectodermal dysplasia (HED) is the most common ED syndrom. It is characterized by atrichosis or hypotrichosis, anodontia or hypodontia and hypohidrosis. Missing teeth or retarded eruption of teeth often leads to the diagnosis of ED, which emphasizes the significance of an appropriate dental examination. Tooth agenesis and its effects on craniofacial structures are often the most signicificant clinical and therapeutical problem. It is a challenge to manage the functional, esthetic and psychosocial needs of these patients and therefore requires the involvement of different specialists, such as pediatrists, pedodontists, oral surgeons and prosthodontists.
PubMed: 26631270
DOI: 10.61872/sdj-2015-11-03 -
Pediatric Radiology Feb 2020Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited.
BACKGROUND
Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited.
OBJECTIVE
The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and to report MRI findings associated with specific diagnoses.
MATERIALS AND METHODS
This retrospective study was approved by the institutional review board; informed consent was waived. Women referred for suspected fetal skeletal dysplasia who underwent MRI between January 2003 and December 2018 were included. Definitive diagnoses were determined by genetic testing, autopsy, physical examination and/or postnatal/postmortem imaging. Fetal MRI examinations and reports were reviewed. Descriptive statistics were used to summarize imaging findings.
RESULTS
Eighty-nine women were referred for fetal MRI for possible skeletal dysplasia. Forty-three (48%) were determined to have a diagnosis other than skeletal dysplasia and nine were excluded for lack of specific skeletal dysplasia diagnosis. Thirty-seven cases of skeletal dysplasia with available fetal MRI and specific diagnosis were included for analysis. Diagnoses included achondrogenesis (n=2), achondroplasia (n=5), Boomerang dysplasia (n=1), campomelic dysplasia (n=2), Jeune syndrome (n=1), Kniest dysplasia (n=1), osteogenesis imperfecta (n=15) and thanatophoric dysplasia (n=10). A specific skeletal dysplasia diagnosis was mentioned in 17/37 (46%) of MRI imaging reports and correct for 14/17 (82%). MRI findings were reported for each specific skeletal dysplasia diagnosis.
CONCLUSION
Fetal MRI is a useful diagnostic tool for skeletal dyplasias and excluded the diagnosis in nearly half of referred pregnancies. In addition to providing fetal lung volumes, fetal MRI demonstrates findings of the brain in achondroplasia and thanatophoric dysplasia, of the spine in achondroplasia and achondrogenesis, of the calvarium in osteogenesis imperfecta and thanatophoric dysplasia, and of the cartilage in Kniest dysplasia.
Topics: Adolescent; Adult; Bone Diseases, Developmental; Bone and Bones; Female; Humans; Magnetic Resonance Imaging; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Young Adult
PubMed: 31776601
DOI: 10.1007/s00247-019-04537-8 -
European Journal of Obstetrics,... May 2021Aim of this study was the evaluation of prevalence of HPV infection and resulting genital dysplasia to assess the necessity and reasonability of pap smears and HPV...
INTRODUCTION
Aim of this study was the evaluation of prevalence of HPV infection and resulting genital dysplasia to assess the necessity and reasonability of pap smears and HPV testing in transgender patients. HPV is the most common sexually transmitted infection and responsible for the majority of genital dysplasias and malignancies. However, few data exist about the prevalence of HPV and dysplasia in transgender people.
METHODS
This retrospective data analysis of prospectively collected data includes all patients seen in our specialized outpatient clinic for transgender people. Gynecologic exam, colposcopy, cellular swabs and HPV typing were carried out. Primary endpoint was the prevalence of HPV and genital dysplasias in transgender patients. Secondary endpoints were the subtypes of HPV, demographic data, sexual orientation and co-morbidities in these patients.
RESULTS
We investigated overall 98 patients whereof 53 were transwomen and 45 transmen. Of those, 10.2 % had positive HPV tests and 10.2 % dysplastic changes in the PAP and one case of invasive anal carcinoma (1.02 %). Comorbidities included recurrent urinary tract infections, psychologic comorbidies and other, possibly hormone replacement related conditions.
CONCLUSION
The results underline the necessity of a routine gynecological examination including PAP and/or HPV screening and vaccinating, respectively, no matter of sexual orientation or comorbidities. Monitoring the existent anatomy may prevent invasive carcinoma requiring more invasive therapies. Moreover, concomitant pathologies are present and require long-term care of these patients almost all using hormone therapy and carrying several specific risk factors. Transgender-focused guidelines to take into account these peculiarities are needed.
Topics: Colposcopy; Female; Humans; Male; Papillomaviridae; Papillomavirus Infections; Pregnancy; Retrospective Studies; Transgender Persons; Uterine Cervical Neoplasms; Vaginal Smears
PubMed: 33836363
DOI: 10.1016/j.ejogrb.2021.03.030