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Congenital Hypotrichosis with Juvenile Macular Dystrophy

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Abstract

Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is characterised by early loss of the first hair growth in the first months of life followed by an incomplete regrowth resulting in congenital localised hypotrichosis associated with juvenile-onset maculopathy. It was first described in 1935 [22].

Keywords

  • Retinal Pigment Epithelium
  • Hair Follicle
  • Hair Growth
  • Autosomal Dominant Disease
  • Central Vision

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References

  1. Albrechtsen B, Svendsen IB. Hypotrichosis, syndactyly, and retinal degeneration in two siblings. Acta Derm Venereol. 1956;1:96–101.

    Google Scholar 

  2. Bjork A, Jahnberg P. Retinal dystrophy combined with alopecia. Acta Ophthalmol (Copenh). 1975;53:781–9.

    CrossRef  CAS  Google Scholar 

  3. Balarin Silva V, Simoes AM, Marques-de-Faria AP. EEM syndrome: report of a family and results of a ten-year follow-up. Ophthal Genet. 1999;20:95–9.

    CrossRef  CAS  PubMed  Google Scholar 

  4. Galal AH, Elbastawisy HI, Abdel Azeem AA. Uncommon associations of ectodermal dysplasia, macular degeneration and other findings in Egyptian case. J Pan-Arab Leag Dermatol. 2005;16:37–43.

    Google Scholar 

  5. Gertoffer M, Defoort Dhellemmes S, Puech B. Affections dermatologiques et maculopathie pigmentée. 103e Congres de la Société Française d’0phtalmologie Oral communication Œil et pathologie générale 1995 2ème part Me 37.

    Google Scholar 

  6. Hayakawa M, Yanashima K, Nakajima A, Yamauchi H. Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report). Ophthalmic Paediatr Genet. 1989;10:287–92.

    CrossRef  CAS  PubMed  Google Scholar 

  7. Indelman M, Bergman R, Lurie R, et al. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular degeneration. J Invest Dermatol. 2002;119:1210–3.

    CrossRef  CAS  PubMed  Google Scholar 

  8. Indelman M, Hamel CP, Bergman R, et al. Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. J Invest Dermatol. 2003;121:1217–420.

    CrossRef  CAS  PubMed  Google Scholar 

  9. Kalhoro A, Puech V, Puech B, Webster AR, Michaelides M, Moore AT, Hunt DM. A Molecular genetic investigation of two families with macular dysplasia in association with digit abnormalities. 08-A-3431-ARVO 2007.

    Google Scholar 

  10. Kjaer KW, Hansen L, Schwabe GC, et al. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet. 2005;42:292–8.

    CrossRef  PubMed Central  CAS  PubMed  Google Scholar 

  11. Kroll P. Beidseitige kongenitale Pigmentblattdystrophie des hinteren Augenpols bei gleichzeitiger Hypotrichosis congenita totalis. Klin Mbl Augenheilk. 1981;178:118–20.

    CrossRef  CAS  PubMed  Google Scholar 

  12. Leibu R, Jermans A, Hatim G, Miller B, Sprecher E, Perlman I. Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function. Ophthalmology. 2006;113:841–7.

    CrossRef  PubMed  Google Scholar 

  13. Moloney JB, Blake J, Denham B, Mooney D. Regional choroidal atrophy and alopecia. A new syndrome. Acta Opthalmol (Copenh). 1988;66:272–6.

    CrossRef  CAS  Google Scholar 

  14. Odom JV, Leys MJ, Waldo B, Sprecher E, Hummel M. Retinal assessment of hypotrichosis with juvenile macular dystrophy. Invest Ophthalmol Vis Sci 2006;47:E-Abstract 5329 B744.

    Google Scholar 

  15. Ohdo S, Hirayama K, Terawaki T. Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome. J Med Genet. 1983;20:52–7.

    CrossRef  PubMed Central  CAS  PubMed  Google Scholar 

  16. Petukhova L, Sousa Jr EC, Martinez-Mir A, Vitebsky A, Dos Santos LG, Shapiro L, Haynes C, Gordon D, Shimomura Y, Christiano AM. Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. Genomics. 2008;92:273–8.

    CrossRef  PubMed Central  CAS  PubMed  Google Scholar 

  17. Raison-Peyron N, Duval PA, Barneon G, et al. A syndrome combining severe hypotrichosis and macular dystrophy: absence of mutations in TIMP genes. Br J Dermatol. 2000;143:902–4.

    CrossRef  CAS  PubMed  Google Scholar 

  18. Shimomura Y, Wajid M, Shapiro L, Christiano AM. P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. Development. 2008;135:743–53.

    CrossRef  CAS  PubMed  Google Scholar 

  19. Souied E, Amalric P, Chauvet ML, et al. Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance. Ophthalmic Genet. 1995;16:11–5.

    CrossRef  CAS  PubMed  Google Scholar 

  20. Sorsby A. Congenital coloboma of the macula together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of the hands and feet. Br J Ophthalmol. 1935;19:65–90.

    CrossRef  PubMed Central  CAS  PubMed  Google Scholar 

  21. Sprecher E, Bergman R, Richard G, et al. Hypotrichosis with juvenile macular dystrophy is caused by mutation in CDH3, encoding P-cadherin. Nat Genet. 2001;29:134–6.

    CrossRef  CAS  PubMed  Google Scholar 

  22. Wagner H. Macula Affektion, vergesellschaftet mit Haarabnormität vom Lanugotypus, beide vielleicht angeboren bei zwei Geschwistern. Albrecht von Graefes Arch Ophthalmol. 1935;134:74–81.

    CrossRef  Google Scholar 

  23. Yasukura K, Mizuta S, Maedak S. Macular degeneration in siblings with unusual hair growth. Jpn J Clin Ophthalmol. 1967;21:495.

    Google Scholar 

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Correspondence to Bernard Puech .

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Puech, B., De Laey, JJ. (2014). Congenital Hypotrichosis with Juvenile Macular Dystrophy. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_35

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  • DOI: https://doi.org/10.1007/978-3-540-69466-3_35

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