Modupeola O. SAMAİLA, Sunday O. AJİKE, Olufemi G OGUNRİNDE, Turaki T MOHAMMED

Hypohydrotic ectodermal dysplasia in black africans

Ektodermal displazi mental retardasyon ile ilişkili nadir genodermatozisdir. Tanı sıklıkla yenidoğanlarda atlanılır ve kişileri et- kiliyen diğer klinik durumlar nedeniyle geç konulur. Biz terleme eksikliği ve kuru deri nedeniyle doğumda ısı intoleransı gelişen 2 erkek hasta bildirdik. Tedavi semptomatik ve multidisipliner bir yaklaşım ile hastaya göre değişmektedir.

Siyah afrikalılarda hipohidrotik ektodermal displazi

Ectodermal dysplasia is an uncommon genodermatosis which may be associated with mental retardation. The diagnosis is often missed in newborns or delayed due to its varied overlapping clinical presentation in affected individuals. We report two maternal blood related males with complaints of heat intolerance since birth, lack of sweating and dry scaly skin. Both had normal devel- opmental milestone and mental acuity. The treatment is symptomatic and patient dependant while overall management requires a multidisciplinary team approach.

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1. Johnson BL jr, Honig P. Congenital Diseases (Genodermatoses) In: Elder DE, Elenitsas R, Johnson BL, Murphy GF. Levers Histopathology of the Skin 9th Ed chapter 6. Lippincott Williams and Wilkins 2005; p 148-9.
2. Ectodermal Dysplasia. New Zealand Dermatological Society Incorporated. © 2011 NZDSI Updated 15 2009.
3. Kere J, Srivastava AK, Montonen O, et al. X-linked anhi- drotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996 ;13 : 409-16
4.Priolo M, Lagana C. Ectodermal dysplasias: a new clinical- genetic classification. J Med Genet 2001; 38 : 579.
5.Mohler DN. Hereditary ectodermal dysplasia associated with primary hypogonadism. Am J Med 1959; 27: 682-8.
6.Reed WB, Lopez DA, Landing BH. Clinical spectrum of an- hidrotic ectodermal dysplasia. Arch Dermatol 1970; 102 : 134-43.
7. Thurnam J. Two cases in which the skin, hair and teeth were very imperfectly developed. Proc R Med Chir Soc 1848; 31: 71-82.
8.Familusi JB, Jaiyesimi F, Ojo CO, Attah EB. Hereditary anhidrotic ectodermal dysplasia: studies in a Nigeria family. Arch dis Child 1975; 50:642-7.
9.van der Hout AH, Oudesluijs GG, Venema A, et al. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. Eur J Hum Genet 2008; 16 : 673-9.
10. Lu PD, Schaffer JV. Hypohidrotic ectodermal dysplasia. Dermatol Online J 2008; 14: 22
11. Bal E, Baala L, Cluzeau C, et al. Autosomal dominant an- hidrotic ectodermal dysplasia at the EDARADD locus. Hum Mutat 2007; 28 : 703-9.
12. Cui CY, Schlessinger D. EDA signaling and skin appendage development. Cell Cycle 2006; 5 : 2477-83.
13. Clouston HR. The major forms of hereditary ectodermal dysplasia. Can Med Assoc J 1939; 40: 1-7.
14. Ogunrinde GO, Zubair RO, Aike SO, Ige SO. Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins. Niger J Clin Pract 2012;15: 98-100.
15. Clarke A, Phillips DIM, Brown R, et al. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987; 62:989.
16. Upshaw B.Y, Montegomery H. Hereditary anhidrotic ec- toderml dysplasia. A clinical and pathologic study. Arch Dermatol Syphilol 1949; 60: 1170-83.
17. Reddy BSN, Chandra S, Jha PK, Singh G. Anhidrotic ecto- dermal dysplasia. International Journal of Dermatology 1978; 17:139-41
18. Sandhu K, Handa S, Kanwar AJ. Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. International Journal of Dermatology 2007; 46: 6313.