Trichorhinophalangeal syndrome type 1: A case report with literature review

Candamourty, Ramesh; Venkatachalam, Suresh; Karthikeyan, B V; Babu, M R Ramesh

doi:10.4103/0976-9668.101936

Cited by 14 publications

(14 citation statements)

References 9 publications

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“…Trichologic abnormalities, a key clinical feature of TRPS, range from almost normal hair to severe hypotrichosis, in which case the scalp may be completely bald [5, 12, 17]. In many patients, scalp hair grows slower than in healthy individuals and remains relatively short.…”

Section: Discussionmentioning

confidence: 99%

“…In children, TRPS may mimic Perthes disease [5]; in older patients, hip abnormalities frequently resemble degenerative arthrosis. Other skeletal abnormalities, such as severe osteoporosis [11] and supernumerary teeth [17], have been described. Regular observation of these patients, including bone and joint examination, is of the utmost importance.…”

Section: Discussionmentioning

confidence: 99%

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Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

Dias

Isidoro

Santos

et al. 2013

Case Reports in Genetics

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Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additional characteristics of mental retardation and multiple exostoses. Case Report. We describe a sporadic case of TRPS type I in a child with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity—c.1198C>T (p. Gln400X) and c.2086C>T (p.Arg696X). None of these mutations were found in her parents. Clinical presentation included typical hair and facial features, as well as slight skeletal abnormalities. Discussion. There is a wide variability in clinical expression of TRPS I. Manifestations of the disease can be subtle, yet skeletal anomalies imply that TRPS I is more than an esthetic problem. Clinical and genetic diagnosis allows adequate followup and timely therapeutic procedures. When a single mutation was sufficient for the onset of the disease, our patient presented two different ones.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

Dias

Isidoro

Santos

et al. 2013

Case Reports in Genetics

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“…The term trichorhinophalangeal syndrome was coined by Giedion in 1966 . There are three types of this syndrome …”

Section: Trichorhinophalangeal Syndromementioning

confidence: 99%

“…37 There are three types of this syndrome. 38,39 On the scalp the classical feature is a severe alopecia in temporal region to complete baldness of the scalp [40][41][42] and trichoscopy reveals thinning hairs (Fig. 11a,b).…”

Section: Trichorhinophalangeal Syndromementioning

confidence: 99%

Conditions simulating androgenetic alopecia

Rossi

Iorio

Nunno

et al. 2015

Acad Dermatol Venereol

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Androgenetic alopecia is a common form of hair loss, characterized by a progressive hair follicular miniaturization, caused by androgen hormones on a genetically susceptible hair follicle, in androgenic-dependent areas. Characteristic phenotype of androgenetic alopecia is also observed in many other hair disorders. These disorders are androgenetic-like diseases that cause many differential diagnosis or therapeutic error problems. The objective of this review was to systematically analyse the greatest number of conditions that mimic the AGA pattern and explain their disease pathogenesis.

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“…Individuals with TRPS type I often have short stature and skeletal abnormalities including cone‐shaped epiphyses in the fingers and toes. TRPS type II is clinically differentiated from TRPS types I and III by the presence of exostoses, distinct facial features, and occasional intellectual disability (Candamourty, Venkatachalam, Karthikeyan, & Babu, ). Intellectual delay in TRPS type I is generally thought to mimic the frequency in the general population (Maas et al, ).…”

Section: Introductionmentioning

confidence: 99%

Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

Gilman

Newman

Freeman

et al. 2017

American J of Med Genetics Pt A

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Tricho-Rhino-Phalangeal syndrome is a rare autosomal dominant genetic disorder caused by mutations in the TRPS1 gene. This malformation syndrome is characterized by distinctive craniofacial features including sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. In this report, we describe two patients with the physical manifestations and genotype of TRPS type I but with learning/intellectual disability not typically described as part of the syndrome. The first patient has a novel heterozygous two-base-pair deletion of nucleotides at 3198-3199 (c.3198-3199delAT) in the TRPS1 gene causing a translational frameshift and subsequent alternate stop codon. The second patient has a 3.08 million base-pair interstitial deletion at 8q23.3 (113,735,487-116,818,578), which includes the TRPS1 gene and CSMD3. Our patients have characteristic craniofacial features, Legg-Perthes syndrome, various skeletal abnormalities including cone shaped epiphyses, anxiety (first patient), and intellectual disability, presenting unusual phenotypes that add to the clinical spectrum of the disease.

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Trichorhinophalangeal syndrome type 1: A case report with literature review

Cited by 14 publications

References 9 publications

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

Conditions simulating androgenetic alopecia

Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

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