DermKnowledgeBASE: Townes brocks Syndrome

Townes brocks Syndrome

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The text is the summary of recent articles on Townes brocks Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.

Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities [1]. Histological features of accessory tragus include a thin Layer of Stratum Corneum with a rugated epidermis, presence of eccrine glands, and Irregular spatial positioning of vellus Hair follicles accompanied by sebaceous glands [2]. Surgical Excision, the most common form of management of accessory tragus lesions, typically leads to a positive outcome [3]. They arise as a result of an abnormal development of the branchial arches and their corresponding ectoderm-lined branchial clefts [4]. We describe what is to the best of our knowledge the first reported case of an ectopic tooth in a branchial cleft anomaly [5].

The patient was a young girl who had other congenital abnormalities and syndromic features and who was eventually diagnosed with Townes-Brocks syndrome [6]. Sall1 is a putative transcription factor that is highly expressed in progenitor Cells during development [7]. These deficiencies are associated with changes in progenitor cell properties during development [8]. Though there are hints regarding causation, the aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions [9]. It is considered to be a transcriptional repressor, preferentially localized on heterochromatin [10].

Sall1 positively regulates and synergizes with Nanog for gene transcriptional regulation [11]. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies [12]. The phenotype encompasses malformations of limbs (triphalangeal thumbs and pre-axial polydactyly), intestine (anal stenosis) and Ears (dysplastic Ear with perception hearing loss) [13]. We present a sporadic case with typical clinical features and extended spectrum, that has previously not been described [14]. Here, we described a 16-month-old male patient with typical TBS clinical features including imperforate anus and preaxial polydactyly [15].

Through segregation analysis, we first excluded three known loci associated with disorders of first and second pharyngeal arches (Treacher Collins syndrome, oculo-auriculo-vertebral spectrum, and Townes-Brocks syndrome) [16]. By contrast, Kidney failure has been reported as the presenting feature of Townes-Brocks syndrome on only one occasion [17]. This report presents the case of a 21-year-old secondary school leaver as a likely case of Townes-Brocks syndrome [18]. He was born with congenital abnormalities consisting of fixed flexion Deformities of Hands, wrist and elbows, urethral meatal stenosis, scoliosis and aortic stenosis [19]. SALL1 plays a critical role during kidney development as Mutations of the human SALL1 gene cause Townes-Brocks syndrome, which is associated with Kidney malformation [20].

Consensus binding sites were identified for several transcription factors, with Multiple sites for WT1 and SIX1 [21].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 ,

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About Me

I have varied research interests ranging from eHealth, Health Information Exchange, Clinical Trials and Research, Contact Dermatitis, Bioinformatics, and Cosmetic Dermatology. I have work experience in Canada as an eHealth analyst, and in Dubai and India as a Specialist Dermatologist.


Bell Raj Eapen
Hamilton, ON