Trichorhinophalangeal Syndrome Type I
Edit

Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails.

genetic conditions

1. Introduction

Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal).

In people with TRPS I, the ends (epiphyses) of one or more bones in the fingers or toes are abnormally cone-shaped. Additionally, the fingernails and toenails are typically thin and abnormally formed. Affected individuals often have short feet.

Individuals with TRPS I may have a misalignment of the hip joints (hip dysplasia), which often develops in early adulthood but can occur in infancy or childhood. Children with TRPS I often have an unusually large range of movement (hypermobility) in many of their joints. Over time, however, the joints may break down (degenerate), leading to joint pain and a limited range of joint movement.

The characteristic appearance of individuals with TRPS I involves thick eyebrows; a broad nose with a rounded tip; large ears, a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip; and small teeth that are either decreased (oligodontia) or increased (supernumerary) in number. Almost all affected individuals have sparse scalp hair. Males are particularly affected by hair loss with many being nearly or completely bald soon after puberty. Some children with this condition have loose skin, but the skin becomes tighter over time. Individuals with TRPS I may experience excessive sweating (hyperhidrosis).

2. Frequency

TRPS I is a rare condition; its prevalence is unknown. In the Netherlands, at least 35 people have TRPS I.

3. Causes

TRPS I is caused by mutations in the TRPS1 gene. This gene provides instructions for making a protein that is found within the cell nucleus where it interacts with specific regions of DNA to turn off (repress) the activity of certain genes. Research suggests that the TRPS1 protein plays a role in regulating genes that control the growth of bone and other skeletal tissues.

TRPS1 gene mutations lead to the production of an altered TRPS1 protein. The altered protein has a reduced ability to control the activity of genes that regulate the growth of bone and other tissues, leading to abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms of TRPS I.

A condition similar to TRPS I is caused by the loss of the TRPS1 gene and its neighboring genes. This condition, called trichorhinophalangeal syndrome type II (TRPS II), has many of the same signs and symptoms of TRPS I, as well as multiple benign (noncancerous) bone tumors called osteochondromas and intellectual disability. These additional features are associated with the loss of genes near TRPS1.

4. Inheritance

TRPS I is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person inherits the mutation from one affected parent. Some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

5. Other Names for This Condition

  • trichorhinophalangeal dysplasia type I
  • TRP syndrome
  • TRPS I
  • TRPS1

References

  1. Candamourty R, Venkatachalam S, Karthikeyan B, Babu MR. Trichorhinophalangeal syndrome type 1: A case report with literature review. J Nat Sci Biol Med. 2012Jul;3(2):209-11. doi: 10.4103/0976-9668.101936.
  2. Dias C, Isidoro L, Santos M, Santos H, Marques JS. TrichorhinophalangealSyndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1Gene. Case Rep Genet. 2013;2013:748057. doi: 10.1155/2013/748057.
  3. Maas S, Shaw A, Bikker H, Hennekam RCM. Trichorhinophalangeal Syndrome. 2017Apr 20. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK425926/
  4. Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M,Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den HollanderNS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A,Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, NielsenM, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, RieublandC, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van denEnde J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Phenotype and genotype in 103 patients withtricho-rhino-phalangeal syndrome. Eur J Med Genet. 2015 May;58(5):279-92. doi:10.1016/j.ejmg.2015.03.002.
More
Related Content
Leukemias and lymphomas, encompassing a spectrum of hematologic malignancies, often exhibit manifestations in various tissues and organs, including the ears, nose, and throat (ENT) region, extending beyond the typical sites of bone marrow and lymph nodes. This entry explores these interactions, considering disease-related symptoms and treatment effects. ENT symptoms, such as otalgia, hearing loss, and nasal obstruction, may arise from direct infiltration or treatment complications, with chemotherapy-induced ototoxicity being particularly characteristic. Furthermore, immunotherapy complications, including cytokine release syndrome and mucosal irritation, can also contribute to ENT symptoms. Additionally, targeted therapy and radiotherapy can lead to mucosal dryness, dysphonia, and radiation-induced otitis media. Patients with hematologic malignancies are especially vulnerable to various ENT infections, including bacterial, viral, and fungal infections, due to compromised immunity resulting from both the disease and its treatments. Conditions such as rhinosinusitis, otitis media, and pharyngitis pose significant management challenges. Moreover, patients undergoing hematopoietic stem cell transplantation (HSCT) face unique ENT considerations, including mucositis, opportunistic infections, and graft-versus-host disease in cases of allogeneic HSCT. These patients require specialized pre-transplant evaluations, meticulous post-transplant surveillance, and tailored assistance to mitigate complications. This entry underscores the importance of a multidisciplinary approach that integrates diagnostics, pharmacological interventions, and supportive care to address both disease-related and treatment-induced ENT manifestations. Further research is needed to refine management strategies and improve outcomes in this complex clinical population.
Keywords: leukemia; lymphoma; chemotherapy; immunotherapy; radiotherapy; ototoxicity; HSCT
Learn the signs and symptoms of skin cancer in the ear, from unusual growths to persistent irritation. Understand what to watch for and when to seek help.
Keywords: signs and symptoms of skin cancer in the ear
Gloeotrichia.
Keywords: bacteria; Gloeotrichia
Background and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children. It is characterized by the presence of juvenile-onset diabetes mellitus (DM), progressive optic atrophy (OA), diabetes insipidus (DI), and sensorineural deafness (D), often referred to by the acronym DIDMOAD. It is a severe neurodegenerative disease with a life expectancy of 39 years, with death occurring due to cerebral atrophy. For a positive diagnosis, the presence of diabetes mellitus and optic nerve atrophy is sufficient. The disease occurs because of pathogenic variants in the WFS1 gene. The aim of this article is to present a case report of Wolfram Syndrome Type I, alongside a review of genetic variants, clinical manifestations, diagnosis, therapy, and long-term management. Emphasizing the importance of early diagnosis and a multidisciplinary approach, the study aims to enhance understanding and improve outcomes for patients with this complex syndrome. Materials and Methods: A case of a 28-year-old patient diagnosed with DM at the age of 6 and with progressive optic atrophy at 26 years old is presented. Molecular diagnosis revealed the presence of a heterozygous nonsense variant WFS1 c.1943G>A (p.Trp648*), and a heterozygous missense variant WFS1 c.1675G>C (p.Ala559Pro). Results: The molecular diagnosis of the patient confirmed the presence of a heterozygous nonsense variant and a heterozygous missense variant in the WFS1 gene, correlating with the clinical presentation of Wolfram syndrome type 1. Both allelic variants found in our patient have been previously described in other patients, whilst this combination has not been described before. Conclusions: This case report and review underscores the critical role of early recognition and diagnosis in Wolfram syndrome, facilitated by genetic testing. By identifying pathogenic variants in the WFS1 gene, genetic testing not only confirms diagnosis but also guides clinical management and informs genetic counseling for affected families. Timely intervention based on genetic insights can potentially reduce the progressive multisystem manifestations of the syndrome, thereby improving the quality of life and outcomes for patients.
Keywords: Wolfram syndrome type 1; optic atrophy; insulin-requiring diabetes mellitus; sensorineural deafness
Clinical features of Morgellons disease. A, MD patient back showing lesions covering entire surface, including areas out of patient’s reach. B, Back of patient with scratching-induced lesions showing distribution limited to patient’s reach. C, Multicolored fibers embedded in skin callus from MD Patient 2 (100x). 
Keywords: bacteria; Borreliella burgdorferi
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
View Times: 556
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Video Production Service