A 4-year-old male child with hypohidrotic ectodermal dysplasia
Keywords:
Hypohidrotic ectodermal dysplasiaAbstract
A 4-year-old male child presented with history of dry skin, scanty scalp hair, and decreased sweating since birth. On examination scalp hair were scanty, thin, dry and brownish in color. Facial features were frontal bossing, saddle shaped nose, thick everted lips and low set large ears. There was partial adontia with only one conical incisor tooth. There was generalized dryness of the skin. Mucosae and nails were normal. Histopathology of the skin showed rudimentary and decreased number of eccrine sweat glands, which confirmed the diagnosis of hypohidrotic ectodermal dysplasia.References
Sarvan I, Naidoo S, Norval EJ.Hypohidrotic ectodermal dysplasia: an unusual presentation and management in an 11-year-old Xhosa boy. SAJD 2000; 55: 34-7.
Priolo M, Silengo M, Lerone M, Ravazzolo R. Ectodermal dysplasias: not only skin deep. Clinic Genet 2000; 58: 415-30.
Solomon LM, Keuer EJ. The ectodermal dysplasias. Problems of classification and some newer syndromes. Arch Dermatol 1980; 116: 1259-9.
Kere J, Srivastava AK, Montonon O. X- linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409-16.
Fosko SW, Stenn KS, Bolognia JL. Ectodermal dysplasias associated with clefting: significance of scalp dermatitis. J Am Acad Dermatol 1992; 27: 249-56.
Bari AU, Rahman SB. Hypohidrotic ectodermal dysplasia: a case report and literature review. J Pak Ass Dermatol 2007; 17: 52-5.
Dhanrajani PJ, Jiffry AD. Management of ectodermal dysplasia: a literature review. Dent Update 1998; 25: 73-5.
Motil KJ, Fete TJ, Fraley JK et al. Growth characteristics of children with ectodermal dysplasia syndromes. Pediatrics 2005; 116: 229-34.
