-
Pediatric Dermatology 2015Neutrophilic dermatoses (NDs) are inflammatory skin conditions that are not associated with infection. The classification and clinical approach to these conditions in... (Review)
Review
Neutrophilic dermatoses (NDs) are inflammatory skin conditions that are not associated with infection. The classification and clinical approach to these conditions in children is poorly described. This review classifies these conditions into five nosological subtypes: Sweet's syndrome, pyoderma gangrenosum, aseptic pustules, neutrophilic urticarial dermatoses, and Marshall's syndrome. In addition, we review the various secondary diseases that need to be excluded in the clinical management of the NDs of childhood, with a focus on the autoinflammatory conditions that the reader may not be familiar with. We propose a practical clinical approach to these disorders.
Topics: Abscess; Cataract; Child; Collagen Type XI; Craniofacial Abnormalities; Diagnosis, Differential; Hearing Loss, Sensorineural; Humans; Neutrophil Infiltration; Osteochondrodysplasias; Pyoderma Gangrenosum; Skin Diseases; Sweet Syndrome; Urticaria
PubMed: 25727235
DOI: 10.1111/pde.12502 -
Archives de Pediatrie : Organe Officiel... 1998
Review
Topics: Child; Diagnosis, Differential; Familial Mediterranean Fever; Fever of Unknown Origin; France; Humans; Periodicity
PubMed: 9759259
DOI: No ID Found -
Archives of Otolaryngology--head & Neck... Sep 2001To characterize the natural history and possible mechanisms of hearing loss in Stickler syndrome (OMIM 108300; or hereditary progressive arthro-ophthalmopathy) and to...
OBJECTIVES
To characterize the natural history and possible mechanisms of hearing loss in Stickler syndrome (OMIM 108300; or hereditary progressive arthro-ophthalmopathy) and to determine if the auditory phenotype is a useful discriminating feature for the differential diagnosis of this group of disorders.
DESIGN
Multifamily study.
SETTING
Outpatient audiology and otolaryngology clinics at the Warren Grant Magnuson Clinical Center of the National Institutes of Health, Rockville, Md.
SUBJECTS
Forty-six affected individuals from 29 different families segregating Stickler syndrome.
INTERVENTIONS
Clinical audiologic and otolaryngological examinations were performed on all individuals, including pure-tone audiometry, speech audiometry, and middle ear immittance testing. Otoacoustic emissions, auditory brainstem response, infrared video electronystagmography, and temporal bone computed tomography were performed on a subset of participants.
RESULTS
The hearing loss was most often sensorineural in adults, and approximately 28 (60%) of the 46 adult patients had 2 or more thresholds greater than the corresponding 95th percentile values for an age-matched, otologically normal population. The hearing loss most often affected high frequencies (4000-8000 Hz) and was generally no more progressive than that due to age-related hearing loss. Type A(D) tympanograms (classification using the Jerger model), indicating hypermobile middle ear systems, were observed in 21 (46%) of the 46 affected individuals. Computed tomography of the temporal bones revealed no inner ear malformations in 19 affected individuals.
CONCLUSIONS
The hypermobile middle ear systems observed in ears with normal-appearing tympanic membranes represent a novel finding for Stickler syndrome and are likely to be a useful diagnostic feature for this disorder. The overall sensorineural hearing loss in type I Stickler syndrome is typically mild and not significantly progressive. It is less severe than that reported for types II and III Stickler syndrome linked to COL11A2 (OMIM 120290) and COL11A1 (OMIM 120280) mutations, respectively, or the closely related Marshall syndrome. This difference will be a useful discriminatory feature in the differential diagnosis of this group of disorders.
Topics: Adolescent; Adult; Aged; Audiometry, Pure-Tone; Child; Child, Preschool; Cleft Palate; Deafness; Disease Progression; Ear, Middle; Face; Female; Humans; Infant; Joint Instability; Male; Middle Aged; Retina; Syndrome; Vitreous Body
PubMed: 11556853
DOI: 10.1001/archotol.127.9.1061 -
Ophthalmic Genetics Dec 2008To report the findings of membranous vitreous veils and radial lattice in a child with Marshall syndrome.
PURPOSE
To report the findings of membranous vitreous veils and radial lattice in a child with Marshall syndrome.
DESIGN
Observational case report.
METHODS
Retrospective review of medical records and fundus photograph of a 6-year-old boy with Marshall syndrome.
RESULTS
Vitreoretinal findings were significant for bilateral membranous vitreous veils and radial lattice degeneration.
CONCLUSIONS
This case demonstrates the occurrence of vitreous veils and radial lattice degeneration in patients with Marshall syndrome.
Topics: Child; Collagen Type XI; Craniofacial Abnormalities; Eye Diseases; Hearing Loss, Sensorineural; Humans; Male; Osteochondrodysplasias; Point Mutation; Retinal Degeneration; Retrospective Studies; Syndrome; Vitreous Body
PubMed: 19005991
DOI: 10.1080/13816810802406339 -
Journal of Medical Genetics Apr 2012
Topics: Base Sequence; Bone and Bones; Cataract; Collagen Type XI; Craniofacial Abnormalities; Facies; Genes, Recessive; Hearing Loss, Sensorineural; Humans; Infant; Male; Mutation; Osteochondrodysplasias; Phenotype; Radiography; Sequence Analysis, DNA
PubMed: 22499343
DOI: 10.1136/jmedgenet-2012-100783 -
Journal of the Medical Association of... Mar 1965
Topics: Abnormalities, Multiple; Cataract; Collagen Type XI; Congenital Hypothyroidism; Craniofacial Abnormalities; Hand Deformities, Congenital; Hearing Loss, Sensorineural; Osteochondrodysplasias; Psychosomatic Medicine; Skin Diseases; Vascular Diseases
PubMed: 14304900
DOI: No ID Found -
Journal of Developmental Biology Aug 2020The autosomal dominant chondrodystrophies, the Stickler type 2 and Marshall syndromes, are characterized by facial abnormalities, vision deficits, hearing loss, and...
The autosomal dominant chondrodystrophies, the Stickler type 2 and Marshall syndromes, are characterized by facial abnormalities, vision deficits, hearing loss, and articular joint issues resulting from mutations in . Zebrafish carry two copies of the gene, designated and . is located on zebrafish chromosome 24 and is located on zebrafish chromosome 2. Expression patterns are distinct for and and is most similar to that is responsible for human autosomal chondrodystrophies and the gene responsible for changes in the chondrodystrophic mouse model . We investigated the function of in craniofacial and axial skeletal development in zebrafish using a knockdown approach. Knockdown revealed abnormalities in Meckel's cartilage, the otoliths, and overall body length. Similar phenotypes were observed using a CRISPR/Cas9 gene-editing approach, although the CRISPR/Cas9 effect was more severe compared to the transient effect of the antisense morpholino oligonucleotide treatment. The results of this study provide evidence that the zebrafish gene for is required for normal development and has similar functions to the mammalian gene. Due to its transparency, external fertilization, the knockdown, and knockout zebrafish model systems can, therefore, contribute to filling the gap in knowledge about early events during vertebrate skeletal development that are not as tenable in mammalian model systems and help us understand -related early developmental events.
PubMed: 32872105
DOI: 10.3390/jdb8030016 -
Journal of Ultrasound in Medicine :... Dec 2005
Topics: Abnormalities, Multiple; Adult; Craniofacial Abnormalities; Eye Abnormalities; Face; Female; Humans; Pregnancy; Syndrome; Ultrasonography, Prenatal
PubMed: 16301732
DOI: 10.7863/jum.2005.24.12.1735 -
Archives of Otolaryngology--head & Neck... Jul 2000Marshall syndrome is a dominant disorder characterized by craniofacial and skeletal abnormalities, sensorineural hearing loss, myopia, and cataracts, and is associated...
BACKGROUND
Marshall syndrome is a dominant disorder characterized by craniofacial and skeletal abnormalities, sensorineural hearing loss, myopia, and cataracts, and is associated with splicing mutations in COL11A1.
OBJECTIVE
To determine the auditory and vestibular phenotypes associated with a COL11A1 splicing.
DESIGN
Clinical otolaryngologic, audiologic, vestibular, and radiologic evaluations of the auditory and vestibular systems.
SUBJECTS
Three affected individuals from a family cosegregating Marshall syndrome and a COL11A1 splice site mutation.
RESULTS
The study subjects have progressive sensorineural hearing loss that is predominantly cochlear in origin and asymptomatic dysfunction of the central and peripheral vestibular systems. Computed tomography detected no malformations of temporal bone structures.
CONCLUSIONS
The observed auditory and vestibular abnormalities are not caused by defective morphogenesis of the osseous labyrinth, but by more direct effects of the COL11A1 mutation on the membranous labyrinth and the central nervous system. The onset and degree of hearing loss associated with COL11A1 mutations are useful clinical features to differentiate Marshall syndrome from the phenotypically similar Stickler syndrome.
Topics: Audiometry, Pure-Tone; Craniofacial Abnormalities; Electronystagmography; Female; Hearing Loss, Sensorineural; Humans; Male; Mutation; Phenotype; RNA Splicing; Syndrome; Temporal Bone; Tomography, X-Ray Computed; Vestibular Diseases
PubMed: 10889003
DOI: 10.1001/archotol.126.7.891 -
International Journal of Dermatology Jun 2024Acquired cutis laxa (ACL) is a rare, nonhereditary cutaneous disorder characterized by saggy inelastic skin. It has been associated with various inflammatory,... (Review)
Review
Acquired cutis laxa (ACL) is a rare, nonhereditary cutaneous disorder characterized by saggy inelastic skin. It has been associated with various inflammatory, autoimmune, and neoplastic diseases, in addition to certain infections and medication. This article reviews ACL the demographical, clinical, and histological features of ACL, focusing on all associated disorders. Additionally, this review article provides an in-depth discussion of all the mechanisms implicated in the pathogenesis of ACL and all therapeutic options available; we also present an algorithm for the workup of patients with ACL. A systematic literature review was performed on PubMed/Medline and EMBASE databases, searching for all available articles on ACL with no limits on participant age, race, sex, nationality, or publication date. Ninety-eight articles were included. The total number of included patients was 110, with a mean age of 36.4 years at presentation (range 0.25-78) and a M:F sex ratio of 1.24. ACL was most commonly associated with inflammatory disorders (43%) followed by neoplastic disorders (27%). In 73% of the neoplastic-associated cases, ACL occurred on average 2.4 years before malignancy onset. ACL occurs months to years after an underlying inflammatory disorder. In 10% of the cases, ACL was associated with a particular drug, and in 2%, it was associated with specific infections. Data were derived from case reports, case series, letters to editors, observational studies, and abstracts. Limitations include the accuracy of published data, potential patient selection, and reporting bias. Dermatologists should be alert to these associations to provide adequate screening and management of patients with ACL.
PubMed: 38924070
DOI: 10.1111/ijd.17338