Abstract
Turner syndrome is a multisystem disorder with many dermatologic manifestations. As it is not always diagnosed in the neonatal period, it is important that clinicians are aware of the diverse clinical stigmata that may provide clues for diagnosis. The unique dermatologic sequelae of Turner syndrome also provide important clinical implications that must be considered when managing these patients. The objective of this chapter is to provide an overview of the dermatologic issues prevalent in patients with Turner syndrome.
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Abbreviations
- TS:
-
Turner syndrome
- hGH:
-
Human growth hormone
- CVG:
-
Cutis verticis gyrata
- CDP:
-
Complete decongestive physiotherapy
References
Lowenstein EJ, Kim KH, Glick SA. Turner’s syndrome in dermatology. J Am Acad Dermatol. 2004;50(5):767–76.
Gunther DF, Sybert VP. Lymphatic, tooth and skin manifestations in Turner syndrome. Int Congr Ser. 2006;1298:58–62.
Chervenak FA, Isaacson G, Blakemore KJ, Breg WR, Hobbins JC, Berkowitz RL, et al. Fetal cystic hygroma. Cause and natural history. N Engl J Med. 1983;309(14):822–5.
von Kaisenberg CS, Nicolaides KH, Brand-Saberi B. Lymphatic vessel hypoplasia in fetuses with Turner syndrome. Hum Reprod. 1999;14(3):823–6.
Larralde M, Gardner SS, Torrado MV, Fernhoff PM, Santos Munoz AE, Spraker MK, et al. Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndrome. Pediatr Dermatol. 1998;15(1):18–22.
Boucher CA, Sargent CA, Ogata T, Affara NA. Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location. J Med Genet. 2001;38(9):591–8.
Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, et al. Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients. J Clin Endocrinol Metab. 2001;86(11):5498–508.
Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, et al. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet. 2003;72(6):1470–8.
Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, et al. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet. 2000;25(2):153–9.
Duong T, Koltowska K, Pichol-Thievend C, Le Guen L, Fontaine F, Smith KA, et al. VEGFD regulates blood vascular development by modulating SOX18 activity. Blood. 2014;123(7):1102–12.
Atton G, Gordon K, Brice G, Keeley V, Riches K, Ostergaard P, et al. The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review. Eur J Hum Genet. 2015;23(12):1634–9.
Bondy CA, Turner Syndrome Study G. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92(1):10–25.
Frias JL, Davenport ML, Committee on G, Section on E. Health supervision for children with Turner syndrome. Pediatrics. 2003;111(3):692–702.
Rizell S. Dentofacial morphology in Turner syndrome karyotypes. Swed Dent J Suppl. 2012;225:7–98.
Berdahl LD, Wenstrom KD, Hanson JW. Web neck anomaly and its association with congenital heart disease. Am J Med Genet. 1995;56(3):304–7.
Brady AF, Patton MA. Web-neck anomaly and its association with congenital heart disease. Am J Med Genet. 1996;64(4):605–6.
Ferencz C, Rubin JD, McCarter RJ, Brenner JI, Neill CA, Perry LW, et al. Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study. Am J Epidemiol. 1985;121(1):31–6.
Sybert VP. Turner syndrome. In: Cassidy S, Allanson J, editors. Management of genetic syndromes. New York: Wiley and Sons; 2001. p. 459–84.
Zielinski T, Lorenc-Podgorska K, Antoszewski B. Surgical correction of a webbed-neck deformity in Turner’s syndrome. Pol Przegl Chir. 2015;87(3):134–8.
Hikade KR, Bitar GJ, Edgerton MT, Morgan RF. Modified Z-plasty repair of webbed neck deformity seen in Turner and Klippel-Feil syndrome. Cleft Palate Craniofac J. 2002;39(3):261–6.
Leandris M, Ricbourg B. Surgical treatment of pterygium colli. A case report and review of the literature. Ann Chir Plast Esthet. 1997;42(6):615–22.
Chaput B, Chavoin JP, Lopez R, Meresse T, Nadon F, Herlin C, et al. The “posterior cervical lift”: a new approach to pterygium colli management. Plast Reconstr Surg Glob Open. 2013;1(6):e46.
Miller LB, Kanter M, Wolfort F. Treatment of webbed neck in Turner’s syndrome with tissue expansion. Ann Plast Surg. 1990;24(5):447–50.
Niranjan NS. Webbing of the neck: correction by tissue expansion. Plast Reconstr Surg. 1989;84(6):985–8.
Preus M, Fraser FC. Dermatoglyphics and syndromes. Amer J Dis Child. 1972;124:933–43.
Verbov J. Clinical significance and genetics of epidermal ridges–a review of dermatoglyphics. J Invest Dermatol. 1970;54(4):261–71.
Hall JG, Gilchrist DM. Turner syndrome and its variants. Pediatr Clin N Am. 1990;37(6):1421–40.
Kaplowitz PB, Chernausek SD, Horn JA. Fingernail angle in girls with Ullrich-Turner syndrome. Am J Med Genet. 1993;46(5):570–3.
Auada MP, Cintra ML, Puzzi MB, Viana D, Cavalcanti DP. Scalp lesions in Turner syndrome: a result of lymphoedema? Clin Dysmorphol. 2004;13(3):165–8.
Debeer A, Steenkiste E, Devriendt K, Morren M. Scalp skin lesion in Turner syndrome: more than lymphoedema? Clin Dysmorphol. 2005;14(3):149–50.
Shepard TH, Wener MH, Myhre SA, Hickok DE. Lowered plasma albumin concentration in fetal Turner syndrome. J Pediatr. 1986;108(1):114–6.
Snyder MC, Johnson PJ, Hollins RR. Congenital primary cutis verticis gyrata. Plast Reconstr Surg. 2002;110(3):818–21.
Becker B, Jospe N, Goldsmith LA. Melanocytic nevi in Turner syndrome. Pediatr Dermatol. 1994;11(2):120–4.
Lemli L, Smith DW. The XO syndrome. A study of the differentiated phenotype in 25 patients. J Pediatr. 1963;63:577–88.
Polani PE. Turner’s syndrome and allied conditions. Clinical features and chromosome abnormalities. Br Med Bull. 1961;17:200–5.
Zvulunov A, Wyatt DT, Laud PW, Esterly NB. Influence of genetic and environmental factors on melanocytic naevi: a lesson from Turner’s syndrome. Br J Dermatol. 1998;138(6):993–7.
Bataille V, Snieder H, MacGregor AJ, Sasieni P, Spector TD. Genetics of risk factors for melanoma: an adult twin study of nevi and freckles. J Natl Cancer Inst. 2000;92(6):457–63.
Bourguignon JP, Pierard GE, Ernould C, Heinrichs C, Craen M, Rochiccioli P, et al. Effects of human growth hormone therapy on melanocytic naevi. Lancet. 1993;341(8859):1505–6.
Pierard GE, Pierard-Franchimont C, Nikkels A, Nikkels-Tassoudji N, Arrese JE, Bourguignon JP. Naevocyte triggering by recombinant human growth hormone. J Pathol. 1996;180(1):74–9.
Gibbs P, Brady BM, Gonzalez R, Robinson WA. Nevi and melanoma: lessons from Turner’s syndrome. Dermatology. 2001;202(1):1–3.
Brazzelli V, Larizza D, Martinetti M, Martinoli S, Calcaterra V, De Silvestri A, et al. Halo nevus, rather than vitiligo, is a typical dermatologic finding of Turner’s syndrome: clinical, genetic, and immunogenetic study in 72 patients. J Am Acad Dermatol. 2004;51(3):354–8.
Bauer J, Garbe C. Acquired melanocytic nevi as risk factor for melanoma development. A comprehensive review of epidemiological data. Pigment Cell Res. 2003;16(3):297–306.
Grob JJ, Gouvernet J, Aymar D, Mostaque A, Romano MH, Collet AM, et al. Count of benign melanocytic nevi as a major indicator of risk for nonfamilial nodular and superficial spreading melanoma. Cancer. 1990;66(2):387–95.
Larizza D, Albanesi M, De Silvestri A, Accordino G, Brazzelli V, Maffe GC, et al. Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up. Eur J Med Genet. 2016;59(5):269–73.
Gare M, Ilan Y, Sherman Y, Ben-Chetrit E. Malignant melanoma in Turner’s syndrome. Int J Dermatol. 1993;32(10):743–4.
Buckley CA, Cheng H. Intraocular melanoma, diabetes, and Turner’s syndrome: presentation with proptosis. Br J Ophthalmol. 1981;65(7):460–3.
Schultz-Pedersen S, Hasle H, Olsen JH, Friedrich U. Evidence of decreased risk of cancer in individuals with fragile X. Am J Med Genet. 2001;103(3):226–30.
Zvulunov A, Wyatt DT, Rabinowitz LG, Esterly NB. Effect of growth hormone therapy on melanocytic nevi in survivors of childhood neoplasia. Arch Dermatol. 1997;133(6):795–6.
Zvulunov A, Wyatt DT, Laud PW, Esterly NB. Lack of effect of growth hormone therapy on the count and density of melanocytic naevi in children. Br J Dermatol. 1997;137(4):545–8.
Wyatt D. Melanocytic nevi in children treated with growth hormone. Pediatrics. 1999;104(4 Pt 2):1045–50.
Ginarte M, Garcia-Caballero T, Fernandez-Redondo V, Beiras A, Toribio J. Expression of growth hormone receptor in benign and malignant cutaneous proliferative entities. J Cutan Pathol. 2000;27(6):276–82.
Fiebig HH, Dengler W, Hendriks HR. No evidence of tumor growth stimulation in human tumors in vitro following treatment with recombinant human growth hormone. Anti-Cancer Drugs. 2000;11(8):659–64.
English JS, Swerdlow AJ, MacKie RM, O’Doherty CJ, Hunter JA, Clark J, et al. Relation between phenotype and banal melanocytic naevi. Br Med J (Clin Res Ed). 1987;294(6565):152–4.
Oiso N, Ota T, Kawara S, Kawada A. Pustular psoriasis and vitiligo in a patient with Turner syndrome. J Dermatol. 2007;34(10):727–9.
Watabe H, Kawakami T, Kimura S, Fujimoto M, Ono T, Mizoguchi M, et al. Childhood psoriasis associated with Turner syndrome. J Dermatol. 2006;33(12):896–8.
Jorgensen KT, Rostgaard K, Bache I, Biggar RJ, Nielsen NM, Tommerup N, et al. Autoimmune diseases in women with Turner’s syndrome. Arthritis Rheum. 2010;62(3):658–66.
Invernizzi P, Miozzo M, Selmi C, Persani L, Battezzati PM, Zuin M, et al. X chromosome monosomy: a common mechanism for autoimmune diseases. J Immunol. 2005;175(1):575–8.
Gravholt CH, Hjerrild BE, Mosekilde L, Hansen TK, Rasmussen LM, Frystyk J, et al. Body composition is distinctly altered in Turner syndrome: relations to glucose metabolism, circulating adipokines, and endothelial adhesion molecules. Eur J Endocrinol. 2006;155(4):583–92.
Larizza D, Martinetti Bianchi M, Lorini R, Maghnie M, Dugoujon JM, Cuccia Belvedere M, et al. Autoimmunity, HLA, Gm and Km polymorphisms in Turner’s syndrome. Autoimmunity. 1989;4(1–2):69–78.
Dacou-Voutetakis C, Kakourou T. Psoriasis and blue sclerae in girls with Turner syndrome. J Am Acad Dermatol. 1996;35(6):1002–4.
Rosina P, Segalla G, Magnanini M, Chieregato C, Barba A. Turner’s syndrome associated with psoriasis and alopecia areata. J Eur Acad Dermatol Venereol. 2003;17(1):50–2.
Tebbe B, Gollnick H, Muller R, Reupke HJ, Orfanos CE. Alopecia areata and diffuse hypotrichosis associated with Ullrich-Turner syndrome. Presentation of 4 patients. Hautarzt. 1993;44(10):647–52.
Lee WS, Yoo MS. Alopecia areata in a patient with Turner’s syndrome. Br J Dermatol. 1996;135(6):1013.
de Andrade M, Jackow CM, Dahm N, Hordinsky M, Reveille JD, Duvic M. Alopecia areata in families: association with the HLA locus. J Investig Dermatol Symp Proc. 1999;4(3):220–3.
Lleo A, Moroni L, Caliari L, Invernizzi P. Autoimmunity and Turner’s syndrome. Autoimmun Rev. 2012;11(6–7):A538–43.
Kawakami Y, Oyama N, Kishimoto K, Yamazaki K, Nishibu A, Nakamura K, et al. A case of generalized pustular psoriasis associated with Turner syndrome. J Dermatol. 2004;31(1):16–20.
Ito M, Maejima Y, Okazaki S, Isobe M, Saeki H. Generalized pustular psoriasis associated with Turner syndrome and dilated cardiomyopathy. J Dermatol. 2016;43(7):829–30.
Dogruk Kacar S, Ozuguz P, Polat S. Coexistence of psoriasis, and alopecia areata with trachyonychia in a pediatric patient with Turner syndrome. Arch Argent Pediatr. 2014;112(5):e209–12.
Asahina A, Uno K, Fujita H. Pustular psoriasis in a patient with Turner syndrome: profile of serum cytokine levels. Int J Dermatol. 2014;53(1):e29–32.
Acikgoz G, Ozmen I, Tunca M, Akar A, Arca E, Saifurrahman S. Psoriasis induced by growth hormone therapy in a patient with Turner’s syndrome. Int J Dermatol. 2015;54(5):e132–5.
Maghnie M, Borroni G, Larizza D, Lorini R, Girani MA, Rabbiosi G, et al. Relapsing eruptive psoriasis and immunological changes triggered by growth hormone therapy in a growth hormone-deficient girl. Dermatologica. 1990;181(2):139–41.
Pirgon O, Atabek ME, Sert A. Psoriasis following growth hormone therapy in a child. Ann Pharmacother. 2007;41(1):157–60.
Brazzelli V, Larizza D, Muzio F, Calcaterra V, Fornara L, Klersy C, et al. Low frequency of acne vulgaris in adolescent girls and women with Turner’s syndrome: a clinical, genetic and hormonal study of 65 patients. Br J Dermatol. 2008;159(5):1209–11.
Deplewski D, Rosenfield RL. Role of hormones in pilosebaceous unit development. Endocr Rev. 2000;21(4):363–92.
Thiboutot D. Hormones and acne: pathophysiology, clinical evaluation, and therapies. Semin Cutan Med Surg. 2001;20(3):144–53.
Brazzelli V, Calcaterra V, Muzio F, Klersy C, Larizza D, Borroni G. Reduced sebum production in Turner syndrome: a study of twenty-two patients. Int J Immunopathol Pharmacol. 2011;24(3):789–92.
Apter D, Lenko HL, Perheentupa J, Soderholm A, Vihko R. Subnormal pubertal increases of serum androgens in Turner’s syndrome. Horm Res. 1982;16(3):164–73.
Gravholt CH, Svenstrup B, Bennett P, Sandahl Christiansen J. Reduced androgen levels in adult Turner syndrome: influence of female sex steroids and growth hormone status. Clin Endocrinol. 1999;50(6):791–800.
Smith DW, Hanson JW. Letter: asynchronous growth of scalp hair in XO Turner syndrome. J Pediatr. 1975;87(4):659–60.
Capaldi L, Gray J, Abuelo D, Torrelo A, Nieto J, Lapidus C, et al. Pigmentary mosaicism and mosaic Turner syndrome. J Am Acad Dermatol. 2005;52(5):918–9.
Moss C, Larkins S, Stacey M, Blight A, Farndon PA, Davison EV. Epidermal mosaicism and Blaschko’s lines. J Med Genet. 1993;30(9):752–5.
Nehal KS, PeBenito R, Orlow SJ. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol. 1996;132(10):1167–70.
Niessen RC, Jonkman MF, Muis N, Hordijk R, van Essen AJ. Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X). Am J Med Genet A. 2005;137A(3):313–22.
Ruiz-Maldonado R, Toussaint S, Tamayo L, Laterza A, del Castillo V. Hypomelanosis of Ito: diagnostic criteria and report of 41 cases. Pediatr Dermatol. 1992;9(1):1–10.
Sybert VP, Pagon RA, Donlan M, Bradley CM. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. J Pediatr. 1990;116(4):581–6.
Thomas IT, Frias JL, Cantu ES, Lafer CZ, Flannery DB, Graham JG Jr. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet. 1989;45(2):193–205.
Flannery DB, Byrd JR, Freeman WE, Perlman SA. Hypomelanosis of Ito: a cutaneous marker of chromosomal mosaicism. Am J Hum Genet. 1985;37:A93.
Deza G, Lopez Aventin D, Salido M, Espinet B, Gilaberte M, Pujol RM. Hyperpigmentation following the Blaschko’s lines: a subtle cutaneous manifestation of Turner syndrome with complex mosaicism. Br J Dermatol. 2016;175:1379.
Handler MZ, Derrick KM, Lutz RE, Morrell DS, Davenport ML, Armstrong AW. Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study. JAMA Dermatol. 2013;149(5):559–64.
Maeda D, Kubo T, Miwa H, Kitamura N, Onoda M, Ohgo M, et al. Multiple pilomatricomas in a patient with Turner syndrome. J Dermatol. 2014;41(6):563–4.
Bengtzen AR, Grossniklaus HE, Bernardino CR. Multiple pilomatrixoma in Turner syndrome. Ophthal Plast Reconstr Surg. 2009;25(3):229–30.
Noguchi H, Kayashima K, Nishiyama S, Ono T. Two cases of pilomatrixoma in Turner’s syndrome. Dermatology. 1999;199(4):338–40.
Wood S, Nguyen D, Hutton K, Dickson W. Pilomatricomas in Turner syndrome. Pediatr Dermatol. 2008;25(4):449–51.
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Haskin, A., Lowenstein, E. (2020). Dermatologic Conditions in Turner Syndrome. In: Fechner, P. (eds) Turner Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-34150-3_13
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