2014, Number 3
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Dermatología Cosmética, Médica y Quirúrgica 2014; 12 (3)
Anhidrotic Ectodermal Dysplasia: Report of 3 Familial Cases Suggestive of X-Linked Inheritance
Carrillo CM, Aguilar SP, Rico GGA, Arenas R
Language: Spanish
References: 19
Page: 175-178
PDF size: 147.61 Kb.
ABSTRACT
Ectodermal dysplasias are a large group of hereditary disorders
characterized by congenital defects in one or more ectodermal
structures. Dysplasias have been described in all Mendelian
modes of inheritance, both autosomal (dominant or recessive)
and X-linked. Of the latter, the common form is the anhidrotic
ectodermal dysplasia, which presents with a clinical triad consisting
of hypodontia, hypotrichosis, and anhidrosis. There are
about 200 cases reported in the literature. This paper documents
3 familial cases suggestive of X-linked inheritance.
REFERENCES
Priolo M. “Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms”. Am J Med Genet A. 2009; 149A(9): 2003-2013.
Mikkola ML. “Molecular aspects of hypohidrotic ectodermal dysplasia”. Am J Med Genet A. 2009; 149A(9): 2031-2036.
Itin PH, Fistarol SK. “Ectodermal Dysplasias”. Am J Med Genet C Semin Med Genet 2004; 131C(1): 45-51.
Coelho LG Junior, Caldas AF Jr, Soriano EP, Rodrigues VM, Costa RS. “Christ Siemens Touraine Syndrome: A case report”. Cases Journal 2009, 2: 38-41.
Sybert VP. “Ectodermal dysplasias”. En: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ (eds.). Fitzpatrick’s dermatology in general medicine. 7ª ed., vol. 2, McGraw-Hill, 2008; p. 1339-1348.
Kere J, Srivastava AK, Montonen A, Zonana J, Thomas N, Ferguson B et al. “X-linked anhidrotic (hypohidrotic) ectodermal displasia is caused by mutation in a novel transmembrane protein”. Nat Genet 1996; 13(4): 409-416.
García-Martín P, Hernández-Martín A, Torrelo A. “Ectodermal Dysplasias: A Clinical and Molecular Review”. Actas Dermosifiliogr 2013; 104(6): 451-470.
Salas-Alanís JC, Cepeda-Valdés R, González-Santos A, Amaya-Guerra M, Kurban M, Christiano AM. “Mutation in the ed1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia”. Rev Med Chil 2011; 139(12):1601-1604.
Verbov J. “Hypohidrotic (or anhidrotic) ectodermal dysplasia–an appraisal of diagnostic methods”. Br J Dermatol 1970; 83(3): 341-348.
Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C et al. “X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired nf-κβ signaling”. Nat Genet 2001; 27(3): 277-285.
Arenas R. Atlas dermatología diagnóstico y tratamiento, 3ª ed., México, McGraw-Hill 2005; pp. 258-259.
Clark A. “Hypohidrotic ectodermal dysplasia”. J Med Genet 1987; 24: 659-663.
Palit A, Inamadar AC. “What syndrome is this? Christ-Siemens-Touraine syndrome (anhidrotic/hypodrotic ectodermal dysplasia)”. Pediatr Dermatol 2006; 23(4): 396-398.
Callea M, Teggi R, Yavuz I, Tadini G, Priolo M, Crovella S, et al. “Ear nose throat manifestations in hypoidrotic ectodermal dysplasia”. Int J Pediatr Otorhinolaryngol 2013; 77(11): 1801-1804.
Baskan Z, Yavuz I, Ulku R, Kaya S, Yavuz Y, Basaran G, et al. “Evaluation of Ectodermal Dysplasia”. Kaohsiung J Med Sci 2006; 22(4): 171-176.
Liu KC, Huang CY, Chao SC. “Anhidrotic ectodermal dysplasia–A case series in a medical center in southern Taiwan”. Dermatologica Sinica 2012; 30: 39-42.
Marcano ME, González F, “Barrera Cutánea”. Dermatol Venezol 2006; 44(2): 5-12.
Pecellin ID, Reguera YC, “Displasia ectodérmica anhidrótica asociada a déficit de lectina de unión a manosa”. An Pediatr Barc 2012; 77(1): 43-46.
Hobkirk JA, Nohl F, Bergendal B, Storhaug K, Richter MK. “The management of ectodermal dysplasia and severe hypodontia. International conference statements”. J Oral Rehabil. 2006; 33(9): 634-637.