Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report

1. Messenger AG, de Berker DA, Sinclair RD. Disorders of hair. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s textbook of dermatology. 8^th ed. Oxford: Blackwell Publishing Ltd; 2010. p. 66.1-66.100.10.1002/9781444317633.ch66Search in Google Scholar

2. Ngan V. Hypertrichosis. DermNet NZ .org [home page on the Internet] [updated 2016 Feb, cited 2016 Jun 9]. Available from: http://dermnetnz.org/hair-nails-sweat/hypertrichosis.htmlSearch in Google Scholar

3. Sutton RL. Diseases of the skin. St. Louis: C.V. Mosby Company; 1916. p. 408. [cited 2016 Jun 9]. Available from: https://archive.org/stream/diseasesskin02suttgoog#page/n20/mode/2upSearch in Google Scholar

4. Pavone P, Praticò AD, Falsaperla R, Ruggieri M, Zollino M, Corsello G, et al. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. Ital J Pediatr 2015;41:55.10.1186/s13052-015-0161-3452628426242548Search in Google Scholar

5. Wendelin DS, Pope DN, Mallory SB. Hypertrichosis. J Am Acad Dermatol 2003;48(2):161–79.10.1067/mjd.2003.10012582385Search in Google Scholar

6. Paus R, Olsen EA, Messemger AG. Hair growth disorders. In: Wolff K, Lowell A, Katz GS, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick’s dermatology in general medicine. 7^th ed. New York: McGraw-Hill; 2008. p. 753-77.Search in Google Scholar

7. Fantauzzo KA, Kurban M, Levy B, Christiano AM. Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genet 2012;8(11):e1003002.10.1371/journal.pgen.1003002348685923133399Search in Google Scholar

8. Sun M, Li N, Dong W, Chen Z, Liu Q, Xu Y, et al. Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet 2009;84(6):807–13.10.1016/j.ajhg.2009.04.018269497319463983Search in Google Scholar

9. Bondeson J, Miles AE. Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia. Am J Med Genet. 1993;47(2):198-212.10.1002/ajmg.13204702138213906Search in Google Scholar

10. Afifi HH, Fukai R, Miyake N, Gamal el Din AA, Eid MM, Eid OM, et al. De Novo 17q24.2–q24.3 microdeletion pre-senting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. Am J Med Genet A 2015;167A(10):2418–24.10.1002/ajmg.a.3718526033841Search in Google Scholar

11. DeStefano GM, Kurban M, Anyane-Yeboa K, Dall’Armi C, Di Paolo G, Feenstra H, et al. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet 2014;10(5):e1004333.10.1371/journal.pgen.1004333402246324831815Search in Google Scholar

12. Anavi Y, Lerman P, Mintz S, Kiviti S. Idiopathic familial gingival fibromatosis associated with mental retardation, epilepsy and hypertrichosis. Dev Med Child Neurol 1989;31(4):538–42.10.1111/j.1469-8749.1989.tb04033.x2806737Search in Google Scholar

13. Canun S, Guevara-Sangines EG, Elvira-Morales A, Sierra-Romero Mdel C, Rodriguez-Asbun H. Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. Am J Med Genet 2003;116A(3):278–83.10.1002/ajmg.a.1088312503107Search in Google Scholar

14. Irvine AD, Dolan OM, Hadden DR, Stewart FJ, Bingham EA, Nevin NC. An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis. J Med Genet 1996;33(1):972–4.10.1136/jmg.33.11.97210507968950682Search in Google Scholar

15. Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, et al. New microdeletion and microduplication syndromes: a comprehensive review. Genet Mol Biol 2014;37(1 Suppl):210–9.10.1590/S1415-47572014000200007398359024764755Search in Google Scholar

16. Douzgou S, Mingarelli R, Dallapiccola B. Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview. Clin Dysmorphol 2009;18(4):205–8.10.1097/MCD.0b013e32832dc39319625955Search in Google Scholar

17. Stankiewicz P, Pursley AN, Cheung SW. Challenges in clinical interpretation of microduplications detected by array CGH analysis. Am J Med Genet A 2010;152A(5):1089–100.10.1002/ajmg.a.3321620425815Search in Google Scholar

18. Laurence JZ. A short account of the bearded and hairy female. Lancet 1857;7(1767):48.Search in Google Scholar