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Trichorhinophalangeal Syndrome.
Open Access Maced J Med Sci. 2017 Jul 25; 5(4):486-489.OA

Abstract

Trichorhinophalangeal syndrome (TRPS) is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic. The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement.

Authors+Show Affiliations

Universita degli Studi di Messina, Policlinico Universitario, Via Consolare Valeria, Messina, Sicilia 98125, Italy.Medical Institute of the Ministry of Interior, Dermatology, Venereology and Dermatologic Surgery; Onkoderma, Private Clinic for Dermatologic Surgery, Dermatology and Surgery, Sofia 1407, Bulgaria.Krankenhaus Dresden-Friedrichstadt, Department of Dermatology and Venereology, Dresden, Sachsen, Germany.Universitario di Ruolo, Dipartimento di Scienze Dermatologiche, Università degli Studi di Firenze, Facoltà di Medicina e Chirurgia, Dermatology, Via Vittoria Colonna 11, Rome 00186, Italy.Universita degli Studi di Messina, Clinical and Experimental Medicine, Section of Dermatology, Messina 98122, Italy.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

28785340

Citation

Vaccaro, Mario, et al. "Trichorhinophalangeal Syndrome." Open Access Macedonian Journal of Medical Sciences, vol. 5, no. 4, 2017, pp. 486-489.
Vaccaro M, Tchernev G, Wollina U, et al. Trichorhinophalangeal Syndrome. Open Access Maced J Med Sci. 2017;5(4):486-489.
Vaccaro, M., Tchernev, G., Wollina, U., Lotti, T., & Guarneri, C. (2017). Trichorhinophalangeal Syndrome. Open Access Macedonian Journal of Medical Sciences, 5(4), 486-489. https://doi.org/10.3889/oamjms.2017.138
Vaccaro M, et al. Trichorhinophalangeal Syndrome. Open Access Maced J Med Sci. 2017 Jul 25;5(4):486-489. PubMed PMID: 28785340.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Trichorhinophalangeal Syndrome. AU - Vaccaro,Mario, AU - Tchernev,Georgi, AU - Wollina,Uwe, AU - Lotti,Torello, AU - Guarneri,Claudio, Y1 - 2017/07/22/ PY - 2017/04/22/received PY - 2017/05/05/revised PY - 2017/05/08/accepted PY - 2017/8/9/entrez PY - 2017/8/9/pubmed PY - 2017/8/9/medline KW - Trichorhinophalangeal syndrome KW - congenital KW - differential diagnosis KW - radiological imaging KW - skeletal abnormalities SP - 486 EP - 489 JF - Open access Macedonian journal of medical sciences JO - Open Access Maced J Med Sci VL - 5 IS - 4 N2 - Trichorhinophalangeal syndrome (TRPS) is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic. The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement. SN - 1857-9655 UR - https://www.unboundmedicine.com/medline/citation/28785340/Trichorhinophalangeal_Syndrome L2 - https://doi.org/10.3889/oamjms.2017.138 DB - PRIME DP - Unbound Medicine ER -
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