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Journal of Medical Genetics Feb 1986
Topics: Eczema; Face; Facial Bones; Female; Fetal Growth Retardation; Follow-Up Studies; Humans; Infant, Newborn; Male; Pregnancy; Syndrome
PubMed: 3950932
DOI: 10.1136/jmg.23.1.11 -
Dermatology (Basel, Switzerland) 2018Keloids are benign fibroproliferative tumors that extend beyond the original wound. Spontaneous keloids are those that result without a significant history of trauma.... (Review)
Review
BACKGROUND
Keloids are benign fibroproliferative tumors that extend beyond the original wound. Spontaneous keloids are those that result without a significant history of trauma. There are multiple reported cases in the literature.
OBJECTIVE
This article provides a summary and review of the cases that have been reported with spontaneous keloids and organizes them according to their associated medical conditions.
METHODS
A literature review was conducted using PubMed and MEDLINE that included all English published cases and case series from May 1955 to February 2018.
RESULTS
Spontaneous keloids have been reported mainly in association with syndromes such as Rubinstein-Taybi syndrome, Dubowitz syndrome, Noonan syndrome, Goeminne syndrome, Bethlem myopathy, conjunctivocorneal dystrophy, X-linked recessive polyfibromatosis and a novel X-linked syndrome with flamin A mutation. Furthermore, spontaneous keloids were reported in atopic patients and a couple of patients who are medically healthy.
CONCLUSION
Spontaneous keloids are diagnosed clinically based on the patient's history, and it is challenging to confirm since they might be triggered by minimal injury or inflammation especially if it is a single lesion. Reported syndromes indicate a genetic possibility in the pathogenesis of spontaneous keloids.
Topics: Humans; Keloid
PubMed: 30114700
DOI: 10.1159/000491924 -
Cureus Aug 2023Pyoderma gangrenosum (PG) is a challenging cutaneous manifestation associated with Dubowitz syndrome, a rare genetic disorder characterized by multiple congenital... (Review)
Review
Pyoderma gangrenosum (PG) is a challenging cutaneous manifestation associated with Dubowitz syndrome, a rare genetic disorder characterized by multiple congenital anomalies, developmental delay, and distinctive facial features. This review article aims to provide a comprehensive overview of the association between Dubowitz syndrome and pyoderma gangrenosum, emphasizing the clinical presentation, challenges in diagnosis and management, and potential underlying mechanisms. A comprehensive literature search was conducted to gather relevant studies, and inclusion and exclusion criteria were applied to select appropriate articles. The association between Dubowitz syndrome and pyoderma gangrenosum has been documented in reported cases and studies. Clinical characteristics of Pyoderma gangrenosum in Dubowitz syndrome include painful necrotic ulcers with undermined borders. Diagnosing pyoderma gangrenosum in the context of Dubowitz syndrome can be challenging due to the overlapping clinical features and complexities associated with the syndrome. Managing pyoderma gangrenosum involves a multidisciplinary approach, with general principles of wound care, systemic therapy, and pain management. Specific considerations for treating pyoderma gangrenosum in Dubowitz syndrome include collaboration among specialists and careful monitoring. Future directions for management include further research to understand the underlying mechanisms and develop targeted therapies. Recognizing and addressing pyoderma gangrenosum in Dubowitz syndrome is crucial for optimal patient care. This review enhances awareness among healthcare professionals and provides insights for improving diagnosis, management, and treatment outcomes for individuals with this challenging combination of conditions.
PubMed: 37706150
DOI: 10.7759/cureus.43408 -
Journal of Clinical Medicine Research Jul 2011Dubowitz syndrome is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to severe mental retardation. Growth...
UNLABELLED
Dubowitz syndrome is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to severe mental retardation. Growth retardation occurs both intrauterine and postnatal. Behavioral characteristics include hyperactivity, short attention span, and aggressiveness. Behavior problems include difficulty feeding, sleep disturbance, and bedwetting. Individuals with the disorder have displayed shyness, fear of crowds, and dislike of loud noises. A high-pitched or hoarse voice is common. Deficits have been found in speech and language skills, reasoning and memory skills, self-help skills, and psychomotor functioning. Ocular, dental, cutaneous, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological medical difficulties have been noted. Approximately 148 cases have been described in the literature. The cause of the disorder remains unknown, however, research suggests genetic origin. Past research emphasizes physical characteristics and medical complications. There is a lack of cognitive, behavioral, and psychological information available regarding the disorder. This article presents a review of the literature and provides assessment and treatment implications for the cognitive, behavioral, and psychological aspects of Dubowitz syndrome.
KEYWORDS
Dubowitz; Syndrome; Autosomal; Recessive.
PubMed: 22121397
DOI: 10.4021/jocmr581w -
Journal of Medical Case Reports Jan 2011Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry,...
INTRODUCTION
Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds.
CASE PRESENTATION
We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome.
CONCLUSION
Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.
PubMed: 21272302
DOI: 10.1186/1752-1947-5-38 -
Cureus Nov 2023Dubowitz syndrome (DS) is a rare genetic disorder characterized by multiple morphological abnormalities, short stature, and different degrees of mental disability....
Dubowitz syndrome (DS) is a rare genetic disorder characterized by multiple morphological abnormalities, short stature, and different degrees of mental disability. Endocrinological evaluation should be done for these subjects, as they can suffer from multiple hormonal derangements. We present a case of a 12-year-old Lebanese girl, diagnosed with Dubowitz syndrome, who presented to our clinic for short stature. She had received growth hormones (GHs) and improved her height. More investigations showed the presence of Hashimoto thyroiditis with normal thyroid stimulating hormone, so hormonal follow-up was recommended. The association between Dubowitz syndrome and Hashimoto thyroiditis has not been described so far. Thus, in the setting of this syndrome, it is worthwhile to check for growth hormone deficiency and Hashimoto's thyroiditis.
PubMed: 38074036
DOI: 10.7759/cureus.48440 -
American Journal of Medical Genetics.... Jan 2021Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been...
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next-generation sequencing. Overall, the DubS-like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype.
Topics: Adolescent; Child; Child, Preschool; DNA Copy Number Variations; Eczema; Exome; Facies; Female; Genetic Predisposition to Disease; Genome, Human; Genomics; Growth Disorders; Histone Deacetylases; Humans; Infant; Intellectual Disability; Male; Microcephaly; Phenotype; Repressor Proteins; Exome Sequencing
PubMed: 33098347
DOI: 10.1002/ajmg.a.61926 -
The Application of Clinical Genetics 2013Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, severe microcephaly, psychomotor retardation,...
BACKGROUND
Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, severe microcephaly, psychomotor retardation, hyperactivity, eczema, and characteristic dysmorphic facial features. Although many cases have been reported, the cause of this disease is still unknown.
CASE
We present here the case of a Lebanese girl with Dubowitz syndrome in whom an unpleasant urine odor was persistently reported since birth.
CONCLUSION
Although Dubowitz syndrome has been largely described in the medical literature, this is the first time that a peculiar urine odor was reported. This case report adds a new and unusual feature to the numerous findings related to this rare polymorphous syndrome.
PubMed: 24159261
DOI: 10.2147/TACG.S47777 -
PloS One 2014Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood...
Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. There is considerable phenotypic variability, suggesting genetic heterogeneity. We clinically characterized and performed exome sequencing and high-density array SNP genotyping on three individuals with Dubowitz syndrome, including a pair of previously-described siblings (Patients 1 and 2, brother and sister) and an unpublished patient (Patient 3). Given the siblings' history of bone marrow abnormalities, we also evaluated telomere length and performed radiosensitivity assays. In the siblings, exome sequencing identified compound heterozygosity for a known rare nonsense substitution in the nuclear ligase gene LIG4 (rs104894419, NM_002312.3:c.2440C>T) that predicts p.Arg814X (MAF:0.0002) and an NM_002312.3:c.613delT variant that predicts a p.Ser205Leufs*29 frameshift. The frameshift mutation has not been reported in 1000 Genomes, ESP, or ClinSeq. These LIG4 mutations were previously reported in the sibling sister; her brother had not been previously tested. Western blotting showed an absence of a ligase IV band in both siblings. In the third patient, array SNP genotyping revealed a de novo ∼ 3.89 Mb interstitial deletion at chromosome 17q24.2 (chr 17:62,068,463-65,963,102, hg18), which spanned the known Carney complex gene PRKAR1A. In all three patients, a median lymphocyte telomere length of ≤ 1st centile was observed and radiosensitivity assays showed increased sensitivity to ionizing radiation. Our work suggests that, in addition to dyskeratosis congenita, LIG4 and 17q24.2 syndromes also feature shortened telomeres; to confirm this, telomere length testing should be considered in both disorders. Taken together, our work and other reports on Dubowitz syndrome, as currently recognized, suggest that it is not a unitary entity but instead a collection of phenotypically similar disorders. As a clinical entity, Dubowitz syndrome will need continual re-evaluation and re-definition as its constituent phenotypes are determined.
Topics: Adult; Dyskeratosis Congenita; Eczema; Facies; Female; Frameshift Mutation; Genetic Heterogeneity; Genotype; Growth Disorders; Humans; Intellectual Disability; Male; Microcephaly; Polymorphism, Single Nucleotide; Telomere
PubMed: 24892279
DOI: 10.1371/journal.pone.0098686 -
Cureus Jul 2021Dubowitz syndrome is a relatively rare genetic and developmental disorder. An eight-year-old female presented with a complaint of drooping in her left eye since...
Dubowitz syndrome is a relatively rare genetic and developmental disorder. An eight-year-old female presented with a complaint of drooping in her left eye since birth. She had undergone ptosis surgery two years back. There was a history of delayed speech and delayed dentition. She was of moderate built appropriate to her age. There was microcephaly, sparse hair, flat bridge of the nose with a prominent rounded tip, short stature, low-set ears, and micrognathia with subsequent protrusion of upper two incisors. Based on the clinical features a diagnosis of Dubowitz syndrome with left recurrent ptosis was made. She underwent frontalis sling surgery and had a satisfactory outcome.
PubMed: 34422468
DOI: 10.7759/cureus.16436