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Hypohydrotic Ectodermal Dysplasia in Black Africans

Year 2013, Volume: 10 Issue: 3, - , 01.09.2013

Modupeola O Samaila Sunday O Ajike Olufemi G Ogunringe Turaki T Mohammed

Abstract

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 developmental milestone and mental acuity. The treatment is symptomatic and patient dependant while overall management requires a multidisciplinary team approach.

Keywords

Hypohidrotic ectodermal dysplasia hypodontia

References

  • Johnson BL jr, Honig P. Congenital Diseases 17. Reddy BSN, Chandra S, Jha PK, Singh G. Anhidrotic ecto- (Genodermatoses) In: Elder DE, Elenitsas R, Johnson BL, Murphy GF. Lever’s Histopathology of the Skin 9th Ed chapter 6. Lippincott Williams and Wilkins 2005; p 148-9.
  • Ectodermal Dysplasia. New Zealand Dermatological Society Incorporated. © 2011 NZDSI Updated 15 2009.
  • 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
  • Priolo M, Lagana C. Ectodermal dysplasias: a new clinical- genetic classification. J Med Genet 2001; 38 : 579.
  • Mohler DN. Hereditary ectodermal dysplasia associated with primary hypogonadism. Am J Med 1959; 27: 682-8.
  • Reed WB, Lopez DA, Landing BH. Clinical spectrum of an- hidrotic ectodermal dysplasia. Arch Dermatol 1970; 102 : 134-43.
  • Thurnam J. Two cases in which the skin, hair and teeth were very imperfectly developed. Proc R Med Chir Soc 1848; 31: 71-82.
  • Familusi JB, Jaiyesimi F, Ojo CO, Attah EB. Hereditary an- hidrotic ectodermal dysplasia: studies in a Nigeria family. Arch dis Child 1975; 50:642-7.
  • 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.
  • Lu PD, Schaffer JV. Hypohidrotic ectodermal dysplasia. Dermatol Online J 2008; 14: 22
  • Bal E, Baala L, Cluzeau C, et al. Autosomal dominant an- hidrotic ectodermal dysplasia at the EDARADD locus. Hum Mutat 2007; 28 : 703-9.
  • Cui CY, Schlessinger D. EDA signaling and skin appendage development. Cell Cycle 2006; 5 : 2477-83.
  • Clouston HR. The major forms of hereditary ectodermal dysplasia. Can Med Assoc J 1939; 40: 1-7.
  • Ogunrinde GO, Zubair RO, Aike SO, Ige SO. Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins. Niger J Clin Pract 2012;15: 98-100.
  • Clarke A, Phillips DIM, Brown R, et al. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987; 62:989.
  • Upshaw B.Y, Montegomery H. Hereditary anhidrotic ec- toderml dysplasia. A clinical and pathologic study. Arch Dermatol Syphilol 1949; 60: 1170-83. dermal dysplasia. International Journal of Dermatology 1978; 17:139-41
  • Sandhu K, Handa S, Kanwar AJ. Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. International Journal of Dermatology 2007; 46: 631–3. 169

Hypohydrotic Ectodermal Dysplasia in Black Africans

Year 2013, Volume: 10 Issue: 3, - , 01.09.2013

Modupeola O Samaila Sunday O Ajike Olufemi G Ogunringe Turaki T Mohammed

Abstract

Ektodermal displazi mental retardasyon ile ilişkili nadir genodermatozisdir. Tanı sıklıkla yenidoğanlarda atlanılır ve kişileri etkiliyen 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

Keywords

Hipohidrotik ektodermal displazi hipodonti

References

  • Johnson BL jr, Honig P. Congenital Diseases 17. Reddy BSN, Chandra S, Jha PK, Singh G. Anhidrotic ecto- (Genodermatoses) In: Elder DE, Elenitsas R, Johnson BL, Murphy GF. Lever’s Histopathology of the Skin 9th Ed chapter 6. Lippincott Williams and Wilkins 2005; p 148-9.
  • Ectodermal Dysplasia. New Zealand Dermatological Society Incorporated. © 2011 NZDSI Updated 15 2009.
  • 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
  • Priolo M, Lagana C. Ectodermal dysplasias: a new clinical- genetic classification. J Med Genet 2001; 38 : 579.
  • Mohler DN. Hereditary ectodermal dysplasia associated with primary hypogonadism. Am J Med 1959; 27: 682-8.
  • Reed WB, Lopez DA, Landing BH. Clinical spectrum of an- hidrotic ectodermal dysplasia. Arch Dermatol 1970; 102 : 134-43.
  • Thurnam J. Two cases in which the skin, hair and teeth were very imperfectly developed. Proc R Med Chir Soc 1848; 31: 71-82.
  • Familusi JB, Jaiyesimi F, Ojo CO, Attah EB. Hereditary an- hidrotic ectodermal dysplasia: studies in a Nigeria family. Arch dis Child 1975; 50:642-7.
  • 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.
  • Lu PD, Schaffer JV. Hypohidrotic ectodermal dysplasia. Dermatol Online J 2008; 14: 22
  • Bal E, Baala L, Cluzeau C, et al. Autosomal dominant an- hidrotic ectodermal dysplasia at the EDARADD locus. Hum Mutat 2007; 28 : 703-9.
  • Cui CY, Schlessinger D. EDA signaling and skin appendage development. Cell Cycle 2006; 5 : 2477-83.
  • Clouston HR. The major forms of hereditary ectodermal dysplasia. Can Med Assoc J 1939; 40: 1-7.
  • Ogunrinde GO, Zubair RO, Aike SO, Ige SO. Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins. Niger J Clin Pract 2012;15: 98-100.
  • Clarke A, Phillips DIM, Brown R, et al. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987; 62:989.
  • Upshaw B.Y, Montegomery H. Hereditary anhidrotic ec- toderml dysplasia. A clinical and pathologic study. Arch Dermatol Syphilol 1949; 60: 1170-83. dermal dysplasia. International Journal of Dermatology 1978; 17:139-41
  • Sandhu K, Handa S, Kanwar AJ. Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. International Journal of Dermatology 2007; 46: 631–3. 169
There are 17 citations in total.

Details

Primary Language English
Journal Section Case Report
Authors

Modupeola O Samaila This is me

Sunday O Ajike This is me

Olufemi G Ogunringe This is me

Turaki T Mohammed This is me

Publication Date September 1, 2013
Published in Issue Year 2013 Volume: 10 Issue: 3

Cite

APA Samaila, M. O., Ajike, S. O., Ogunringe, O. . G., Mohammed, T. T. (2013). Hypohydrotic Ectodermal Dysplasia in Black Africans. European Journal of General Medicine, 10(3).
AMA Samaila MO, Ajike SO, Ogunringe OG, Mohammed TT. Hypohydrotic Ectodermal Dysplasia in Black Africans. European Journal of General Medicine. September 2013;10(3).
Chicago Samaila, Modupeola O, Sunday O Ajike, Olufemi G Ogunringe, and Turaki T Mohammed. “Hypohydrotic Ectodermal Dysplasia in Black Africans”. European Journal of General Medicine 10, no. 3 (September 2013).
EndNote Samaila MO, Ajike SO, Ogunringe OG, Mohammed TT (September 1, 2013) Hypohydrotic Ectodermal Dysplasia in Black Africans. European Journal of General Medicine 10 3
IEEE M. O. Samaila, S. O. Ajike, O. . G. Ogunringe, and T. T. Mohammed, “Hypohydrotic Ectodermal Dysplasia in Black Africans”, European Journal of General Medicine, vol. 10, no. 3, 2013.
ISNAD Samaila, Modupeola O et al. “Hypohydrotic Ectodermal Dysplasia in Black Africans”. European Journal of General Medicine 10/3 (September 2013).
JAMA Samaila MO, Ajike SO, Ogunringe OG, Mohammed TT. Hypohydrotic Ectodermal Dysplasia in Black Africans. European Journal of General Medicine. 2013;10.
MLA Samaila, Modupeola O et al. “Hypohydrotic Ectodermal Dysplasia in Black Africans”. European Journal of General Medicine, vol. 10, no. 3, 2013.
Vancouver Samaila MO, Ajike SO, Ogunringe OG, Mohammed TT. Hypohydrotic Ectodermal Dysplasia in Black Africans. European Journal of General Medicine. 2013;10(3).