Abstract
A young lady presented with sparse hair of the scalp and eyebrows, short deformed fingers, and short stature. She had characteristic facies of a broad nose, wide philtrum, and thin upper lip. The clinical features together with the X-ray findings proved the diagnosis of a rare genetic condition.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Bibliography
Carrington PR, Chen H, Altick JA. Trichorhinophalangeal syndrome, type I. J Am Acad Dermatol. 1994;31:331–6.
Chang GT, Jhamai M, van Weerden WM, Jenster G, Brinkmann AO. The TRPS1 transcription factor: androgenic regulation in prostate cancer and high expression in breast cancer. Endocr Relat Cancer. 2004;11:815–22.
Giedion A. Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II. Pediatr Radiol. 1998;28(10):751–8.
Giedion A, Burdea M, Fruchter Z, Meloni T, Trosc V. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helv Paediatr Acta. 1973;28(3):249–59.
Gorlin RJ, Cohen MM Jr, Wolfson J. Tricho-rhino-phalangeal syndrome. Am J Dis Child. 1969;118:595–9.
Ito T, Shimomura Y, Farooq M, Suzuki N, Sakabe J, Tokura Y. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. J Dermatol. 2013;40:396–8.
Jeon J, Kim JH, Oh CH. Trichorhinophalangeal syndrome type I–clinical, microscopic, and molecular features. Indian J Dermatol Venereol Leprol. 2014;80:54–7.
Konala P, Kiely N, Noakes C, Blair E, Cassar-Pullicino VN. Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures. Pediatr Radiol. 2017;47(8):1016–21.
Langer LO Jr. The thoracic-pelvic-phalangeal dystrophy. Birth Defects Orig Artic Ser. 1969;5:55–64.
Lenin MR, Sampath S, Sivathanu S, David JHR. Trichorhinophalangeal syndrome type 1 with growth hormone deficiency. Curr Pediatr Res. 2015;19(1–2):21–3.
Ludecke HJ, Schaper J, Meinecke P, et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet. 2001;68(1):81–91.
Maas SM, Shaw AC, Bikker H, et al. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. Eur J Med Genet. 2015;58(5):279–92.
Merjaneh L, Parks JS, Muir AB, Fadoju D. A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature. Int J Pediatr Endocrinol. 2014;2014(1):16.
Niikawa N, Kamei T. Letter to the Editor: the Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III. Am J Med Genet. 1986;24:759–60.
Seitz CS, Lüdecke HJ, Wagner N, Bröcker EB, Hamm H. Trichorhinophalangeal syndrome type I:clinical and molecular characterization of 3 members of a family and 1 sporadic case. Arch Dermatol. 2001;137(11):1437–42.
Shao C, Tian J, Shi DH, et al. A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis. Chin Med J. 2001;124(10):1583–5.
Stagi S, Bindi G, Galluzzi F, Lapi E, Salti R, Chiarelli F. Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. Am J Med Genet A. 2008;146A:1598–604.
Unglaub F, Hahn P, Spies CK. Type I Trichorhinophalangeal syndrome – rare, but catchy. Handchir Mikrochir Plast Chir. 2017;49(1):58–9.
Vaccaro M, Guarneri C, Blandino A. Trichorhinophalangeal syndrome. J Am Acad Dermatol. 2005;53:858–60.
Yáñez S, Hernández-Vicente I, Armijo M. Trichorhinophalangeal syndrome. Int J Dermatol. 1992;31:706–9.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
El-Darouti, M.A., Al-Ali, F.M. (2019). Malformation of Hair, Nose, and Phalanges. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_22
Download citation
DOI: https://doi.org/10.1007/978-3-030-21855-3_22
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-21854-6
Online ISBN: 978-3-030-21855-3
eBook Packages: MedicineMedicine (R0)