Skip to main content
SpringerLink
Log in

Congenital atrichia and hypotrichosis

  • Review Article
  • Published:
World Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Background

Alopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge for the involved physician.

Data sources

An initial correct diagnosis and classification is essential because structural hair defects may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder and may impact the mental and physical development of a child. Pathological hair loss rarely occurs in the first year of life; however, it may be a leading symptom of many congenital diseases.

Results

In recent years, the clinical and microscopic features of hereditary hair shaft disorders have been characterized and classified. Furthermore, significant progress has been made in our knowledge of genes that control the normal development and differentiation of hair follicles, and thus the research is to define and classify the hair disorders within a genetic basis.

Conclusions

In this article we discuss several types of genotrichosis and provide a practical classification based on their clinical features.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Bonnet R. Ueber Hypotrichosis congenital universalis. Anatomishe Hefte 1892;1:233.

    Article  Google Scholar 

  2. Cockayne AE. Inherited abnormalities of the skin and its appendages. Oxford: Oxford University Press, 1933: 229.

    Google Scholar 

  3. Muller SA. Alopecia: syndromes of genetic significance. J Invest Dermatol 1973:60:475–492.

    Article  PubMed  CAS  Google Scholar 

  4. Sâlamon T. Hypotrichosis and alopecia in cases of genodermatosis. In: Orfanos CE, Montagna W, Stüttgen G, eds. Hair Research Status and Future Aspects. Berlin: Springer-Verlag, 1981: 396–407.

    Google Scholar 

  5. Camacho F. Genodermatosis with hyptrichosis. In: Camacho F, Montagna W, eds. Tricology. Madrid: Aula M’edica, 1996: 219–236.

    Google Scholar 

  6. Boni R, Boni RH, Tsambaos D, Spycher MA, Trueb RM. Trichorhinophalangeal syndrome. Dermatology 1995;190:152–155.

    Article  PubMed  CAS  Google Scholar 

  7. Lu FL, Hou JW, Tsai WS, Teng RJ, Yau KI, Wang TR. Trichorhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome. J Formos Med Assoc 1997;96:217–221.

    PubMed  CAS  Google Scholar 

  8. Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G. Trichorhinophalangeal syndrome type III. Dermatology 1996;193:349–352.

    Article  PubMed  CAS  Google Scholar 

  9. Paradisi M, Angelo C, Conti G, Mostaccioli S, Cianchini G, Atzori F, et al. Dubowitz syndrome with keloidal lesions. Clin Exp Dermatol 1994;19:425–427.

    Article  PubMed  CAS  Google Scholar 

  10. Vadiakas G, Oulis C, Tsianos E, Mavridou S. A typical Hallermann-Streiff syndrome in a 3 year old child. J Clin Pediatr Dent 1995;20:63–68.

    PubMed  CAS  Google Scholar 

  11. da Fonseca MA, Mueller WA. Hallerman-Streiff syndrome: case report and recommendations for dental care. ASDC J Dent Child 1994;61:334–337.

    PubMed  Google Scholar 

  12. Freire-Maya N. Ectodermal dysplasia revisited. Acta Genet Med Gemellol (Roma) 1977;26:121–131.

    Google Scholar 

  13. Solomon LM, Keuer EJ. The ectodermal dysplasias. Arch Dermatol 1980;116:1295–1299.

    Article  PubMed  CAS  Google Scholar 

  14. Jones EM, Hersh JH, Yusk JW. Aplasia cutis congenita, cleft palate, epidermolysis bullosa and ectrodactily: a new syndrome? Pediatr Dermatol 1992;9:293–297.

    Article  PubMed  CAS  Google Scholar 

  15. Becker M, Rohrschneider K, Tilgen W, Weber BH, Volcker HE. Familial juvenile macular dystrophy with congenital hypotrichosis capitis. Ophthalmology 1998;95:233–240.

    Article  CAS  Google Scholar 

  16. Blume-Peytavi U, Fohles J, Schulz R, Wortmann G, Gollnick H, Orfanos CE. Hypotrichosis, hair structure defects, hypercysteine hair and glucosuria: a new genetic syndrome? Br J Dermatol 1996;134:319–324.

    Article  PubMed  CAS  Google Scholar 

  17. C’aceres-R’ios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol 1996;13:105–113.

    Article  Google Scholar 

  18. Michaëlsson G, Olsson E, Westermark P. The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol 1981;61:497–503.

    PubMed  Google Scholar 

  19. Ashinoff R, Jacobson M, Belsito DV. Rombo syndrome: a second case report and review. J Am Acad Dermatol 1993;28:1011–1014.

    Article  PubMed  CAS  Google Scholar 

  20. Lacombe D, Taieb A. Overlap between the Bazex syndrome and congenital hypotrichosis and milia. Am J Med Genet 1995;56:423–424.

    Article  PubMed  CAS  Google Scholar 

  21. Kidd A, Carson L, Gregory DW, de Silva D, Holmes J, Dean JC, et al. A Scottish family with Bazex-Dupre-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma. J Med Genet 1996;33:493–497.

    Article  PubMed  CAS  Google Scholar 

  22. Goeteyn M, Geerts ML, Kint A, De Weert J. The Bazex-Dupre-Christol syndrome. Arch Dermatol 1994;130:337–342.

    Article  PubMed  CAS  Google Scholar 

  23. Ferrando J, Grimalt R. Hereditary simple hypotrichosis. In: Ferrando J, Grimalt R. eds. Atlas of paediatric trichology. Madrid: Aula M’edica, 2000: 64–65.

    Google Scholar 

  24. Toribio J, quiñones PA. Hereditary hypotrichosis simplex of the scalp. Evidnce for autosomal dominant inheritance. Br J Dermatol 1974;91:687–696.

    Article  PubMed  CAS  Google Scholar 

  25. Lestringant GG, Kuster W, Frossard PM, Happle R. Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? Am J Med Genet 1998;75:186–189.

    Article  PubMed  CAS  Google Scholar 

  26. Steijlen PM, Neumann HA, der Kinderen DJ, Smeets DF, van der Kerkhof PC, Happle R. Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: a new syndrome? J Am Acad Dermatol 1994;30:893–898.

    Article  PubMed  CAS  Google Scholar 

  27. Basaran E, Yilmaz E, Alpsoy E, Yilmaz GG. Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome? Br J Dermatol 1995;133:636–638.

    Article  PubMed  CAS  Google Scholar 

  28. Devriendt K, Van den Berghe H, Fryns JP. Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism. Clin Genet 1996;49:6–9.

    Article  PubMed  CAS  Google Scholar 

  29. Nothen MM, Cichon S, Vogt IR, Hemmer S, Kruse R, Knapp M, et al. A gene for universal congenital alopecia maps to chromosome 8p21-22. Am J Hum Genet 1998;62:386–390.

    Article  PubMed  CAS  Google Scholar 

  30. Cichon S, Anker M, Vogt IR, Rohleder H, Pützstück M, Hillmer A, et al. Cloning, genomic organisation, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Hum Mol Genet 1998;7:1671–1679.

    Article  PubMed  CAS  Google Scholar 

  31. Rapelanoro R, Taieb A, Lacombe D. Congenital hypotrichosis and milia: report of a large family suggesting X-linked dominant inheritance. Am J Med Genet 1994;52:487–490.

    Article  PubMed  CAS  Google Scholar 

  32. Gobello T, Mazzanti C, Fileccia P, Didona B, Papi M, Atzori F, et al. X-linked dominant chondrodysplasia punctata (Happle syndrome) with uncommon symmetrical shortening of the tubular bones. Dermatology 1995;191:323–327.

    Article  PubMed  CAS  Google Scholar 

  33. Armstrong DK, Burrows D. Congenital triangular alopecia. Pediatr Dermatol 1996;13:394–396.

    Article  PubMed  CAS  Google Scholar 

  34. de Viragh PA, Gianadda B, Levy ML. Congenital alopecia areata. Dermatology 1997;195:96–98.

    Article  PubMed  Google Scholar 

  35. Garc’Ia-Hern’andez MJ, Rodr’Iguez-Pichardo A, Camacho F. Congenital triangular alopecia (Brauer nevus). Pediatr Dermatol 1995;12:301–303.

    Article  Google Scholar 

  36. Zapata HH, Sletten LJ, Pierpont ME. Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet 1995;47:80–84.

    Article  PubMed  CAS  Google Scholar 

  37. Gershoni-Baruch R, Leibo R. Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: a new autosomal recessive disorder. Am J Med Genet 1996;61:42–44.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology, Hospital Clínic, University of Barcelona, Barcelona, Spain

    Antoni Bennàssar, Juan Ferrando & Ramon Grimalt

  2. Department of Dermatology, Hospital Clínic, Villarroel 170, 08036, Barcelona, Spain

    Ramon Grimalt

Authors
  1. Antoni Bennàssar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Juan Ferrando
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ramon Grimalt
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ramon Grimalt.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bennàssar, A., Ferrando, J. & Grimalt, R. Congenital atrichia and hypotrichosis. World J Pediatr 7, 111–117 (2011). https://doi.org/10.1007/s12519-011-0262-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12519-011-0262-z

Key words

Search

Navigation