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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 -
European Journal of Anaesthesiology Aug 2019
PubMed: 31274551
DOI: 10.1097/EJA.0000000000000959 -
American Journal of Medical Genetics.... Dec 2018Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by microcephaly, short stature, eczema, mild developmental delays, and an increased risk...
Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by microcephaly, short stature, eczema, mild developmental delays, and an increased risk of malignancy. Since its original description, there have been over 200 reported cases though no single gene has been identified to explain a significant proportion of affected individuals. Since the last definitive review of Dubowitz syndrome in 1996, there have been 63 individuals with a clinical, or suspected, diagnosis of Dubowitz syndrome reported in 51 publications. These individuals show a markedly wide spectrum with respect to growth, facial gestalt, psychomotor development, and risk of malignancy; genetic causes were identified in 33% (21/63). Seven individuals had deleterious copy number variants, in particular deletions at 14q32 and 17q24 were reported and showed overlap with the Dubowitz phenotype. Several cases were shown to have single gene disorders that included de novo or biallelic pathogenic variants in several genes including NSUN2 and LIG4 frequently identified by next-generation sequencing methods. It appears that the inability to identify a single gene responsible for Dubowitz syndrome reflects its extreme clinical and genetic heterogeneity. However, detailed phenotyping combined with careful grouping of subsets of unsolved cases and in conjunction with data-sharing will identify novel disease genes responsible for additional cases. In the interim, for those clinically diagnosed with a Dubowitz phenotype, we recommend assessment by a Medical Geneticist, a microarray and, if available, clinical or research based genome-wide sequencing. Management suggestions, including decisions regarding malignancy screening in select patients will be discussed.
Topics: Child; Disease Management; Eczema; Facies; Female; Genetic Heterogeneity; Growth Disorders; Humans; Intellectual Disability; Male; Meta-Analysis as Topic; Microcephaly; Phenotype; Prognosis
PubMed: 30580484
DOI: 10.1002/ajmg.c.31661 -
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 -
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 -
Pediatric Allergy and Immunology :... Dec 2015
Topics: Eczema; Growth Disorders; Humans; Intellectual Disability; Male; Microcephaly; T-Lymphocytes
PubMed: 26009798
DOI: 10.1111/pai.12411 -
Wounds : a Compendium of Clinical... Mar 2023Dubowitz syndrome is a rare genetic disease with only a few cases reported in the literature. It is characterized by growth retardation, microcephaly, facial dysmorphism...
INTRODUCTION
Dubowitz syndrome is a rare genetic disease with only a few cases reported in the literature. It is characterized by growth retardation, microcephaly, facial dysmorphism and higher risk of developing cancer and cardiomyopathies. PG is an autoinflammatory disorder that causes painful ulcers to develop on the skin and has not been previously associated with Dubowitz syndrome.
CASE PRESENTATION
The authors report the case of a 50-year-old female with Dubowitz syndrome who developed painful ulcerative lesions. An incisional biopsy was performed to rule out other diagnoses, and a subsequent clinical diagnosis of PG was made. The patient was treated with specialized wound dressings and oral glucocorticoids. The clinical picture improved consistently after 7 weeks of therapy.
CONCLUSIONS
This case report, to the authors' knowledge, is the first to suggest a possible association between Dubowitz syndrome and PG and also to indicate an effective treatment.
Topics: Female; Humans; Middle Aged; Comorbidity; Growth Disorders; Microcephaly; Pyoderma Gangrenosum; Facies; Intellectual Disability; Ulcer; Glucocorticoids
PubMed: 37023352
DOI: 10.25270/wnds/22051 -
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 -
American Journal of Medical Genetics.... Sep 2021Now in its 7th edition, Smith's Recognizable Patterns of Human Malformation was first published in 1970. This 1st edition comprised 135 "dysmorphic syndromes of multiple... (Review)
Review
Now in its 7th edition, Smith's Recognizable Patterns of Human Malformation was first published in 1970. This 1st edition comprised 135 "dysmorphic syndromes of multiple primary defects" and 12 "single syndromic malformations resulting in secondary defects." Of the former, other than a few chromosomal and environmental disorders, most were heritable conditions of then unknown etiology. In 2021, the majority of these conditions are now "solved," a notable exception is Hallermann-Streiff syndrome. The "solved" conditions were typically clinically delineated decades prior to understanding the underlying etiology, which rarely required recent technologies such as exome sequencing (ES) to elucidate. The 7th edition includes nearly 300 syndromes, sequences, and associations. An increasing number of conditions first appearing in the latest editions are sporadic, with many solved using either array CGH or ES. We have reviewed all syndromes that have appeared in "Smith's" with a focus on inheritance, heterogeneity, and year and method of etiologic discovery. Several themes emerge. Genetic heterogeneity and pleiotropy of genes are frequent. Several of the currently "unresolved" syndromes are clinically diverse such as Dubowitz syndrome. Multiple recurrent constellations of embryonic malformations, with VACTERL association as a paradigm, are increasingly likely to have a shared pathogenesis requiring further study.
Topics: Abnormalities, Multiple; Chromosomes, Human; Congenital Abnormalities; Gene-Environment Interaction; Genetic Predisposition to Disease; History, 20th Century; History, 21st Century; Humans
PubMed: 33951288
DOI: 10.1002/ajmg.a.62240