Trichorhinophalangeal Syndrome Type I

Seitz, Cornelia S.; Lüdecke, Hermann‐Josef; Wagner, Nicola; Bröcker, Eva‐Bettina; Hamm, Henning

doi:10.1001/archderm.137.11.1437

Cited by 31 publications

(19 citation statements)

References 18 publications

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“…[114] Changes in the nails were described as thin and fragile nails. Additional changes included shortening and broadening of nails giving rise to the appearance of racket nails[15] which correlates to our case. The most interesting intra-oral finding in the presented case was three impacted and seven completely erupted supernumerary teeth which pose an important clinical significance for the dentists.…”

Section: Discussionsupporting

confidence: 74%

Trichorhinophalangeal syndrome type 1: A case report with literature review

Candamourty¹,

Venkatachalam²,

Karthikeyan³

et al. 2012

J Nat Sc Biol Med

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Trichorhinophalangeal syndrome is a very rare genetic disorder, where damage and mutation to the number 8 chromosome affects sufferers in numerous ways. The syndrome has three types, all characterized by abnormally short stature, sparse hair, short deformed fingers with cone-shaped epiphyses visible in radiographs. Type I is the most common. Type II is characterized by the development of multiple bony exostoses and frequently, mental disability. Type III is a more severe form of type I and is associated with short stature. This report presents a 28-year-old man who had the characteristic features of type I with the presence of multiple erupted supernumerary teeth with normal mentation and karyotyping with high resolution G banding displayed normal chromosomal complements.

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Section: Discussionsupporting

confidence: 74%

Trichorhinophalangeal syndrome type 1: A case report with literature review

Candamourty¹,

Venkatachalam²,

Karthikeyan³

et al. 2012

J Nat Sc Biol Med

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“…Interestingly, the patient showed a unique pattern of scalp hair loss, manifesting as triangular loss of hair in the mid occipital scalp, which was previously described in this syndrome[7] and might have been overlooked in additional patients. Our patient was diagnosed in a relatively advanced age, suggesting that the prevalence of TRPS type I is probably still underestimated and should be considered by dermatologists when examining new patients.…”

Section: Discussionmentioning

confidence: 70%

Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I

Ovcharenko

Ramot

2013

Int J Trichol

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Trichorhinophalangeal syndrome (TRPS) type I is a rare autosomal dominant disorder, caused by mutations in the TRPS1 gene. It is characterized by slowly growing hair, craniofacial manifestations and orthopedic abnormalities. We present a 17-year-old female of Ukrainian origin who presented to the hair clinic with the complaint of hair loss. Further examination revealed the presence of craniofacial features characteristic for TRPS type I. Sequence analysis of the TRPS1 gene revealed a novel c. 2396_2397 insG frameshift mutation in exon 5, leading to a premature stop at codon 800. This case underlines the importance of the hair phenotype to the diagnosis of this syndrome and emphasizes the fact that when encountered with a severe alopecia in young age, the possibility of a congenital hair disease should always be borne in mind.

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“…In our family, however, there was no evident intrafamilial clinical variability; growth delay ranged between ≥ 2.5 and ≥ 3 SD and severe brachydactyly in hands and feet was evident in all family members. Additional associated physical signs reported in TRPS type I, such as endocrine disturbance was not present in either of our family members [8, 25–27] In 2000, Momeni et al reported TRPS1 as the causal gene of TRPS [5]. This gene maps to 8q23.3 and encodes for a 141 kD multi zinc-finger transcription factor protein composed of 1294 amino acids with 9 putative zinc-finger motifs.…”

Section: Discussionmentioning

confidence: 72%

“…Thus TRPS1 haploinsufficiency impairs endochondral cartilage differentiation and epithelial cell interactions in developing hair follicles by altering many signaling pathways as STAT3 and WNT/β catenin [7, 28–30]. Many studies reported mutations in the TRPS1 gene and to date it appears to be the only gene associated with the TRPS phenotype [6, 8, 9, 27, 28]. According to the Human Genome Mutation Database, more than 120 pathogenic mutations correlated to TRPS phenotype have been reported, with most of them being nonsense or frameshift mutations.…”

Section: Discussionmentioning

confidence: 99%

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

et al. 2017

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BackgroundTricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation.Case presentationWe report the first case of a Moroccan family, a father and his three children, in which the diagnosis of type III TRPS was suspected based on severe clinical and radiological features. Molecular analysis of the TRPS1 gene revealed a novel missense mutation in exon 6, (p.Ala932Ser), located in the GATA-type DNA-binding zinc finger domain.ConclusionOur observations in this kindred support the previous genotype-phenotype results suggesting that patients with more pronounced facial characteristics and more severe shortening of hands and feet are more likely to have mutation in exon 6 of TRPS1.

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Trichorhinophalangeal Syndrome Type I

Cited by 31 publications

References 18 publications

Trichorhinophalangeal syndrome type 1: A case report with literature review

Trichorhinophalangeal syndrome type 1: A case report with literature review

Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

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