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Intellectual Disability: When the Hypertrichosis Is a Clue.

Lidia Pezzani1, Donatella Milani2, Gianluca Tadini3

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Summary

Intellectual disability (ID) can be linked to congenital skin conditions. This review highlights frequent diseases with ID and hirsutism, urging clinicians to examine ectodermal features in ID patients.

Keywords:
hairhirsutismhypertrichosisintellectual disability

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Area of Science:

  • Developmental Biology
  • Genetics
  • Dermatology

Background:

  • The ectoderm ridge is a common origin for skin and nervous system development.
  • Syndromes with intellectual disability (ID) can present with congenital skin abnormalities.

Purpose of the Study:

  • To review frequent diseases characterized by intellectual disability (ID) and hirsutism.
  • To encourage clinicians to assess ectodermal appendages in patients with ID.

Main Methods:

  • Literature review of syndromes associating ID and hirsutism.
  • Analysis of congenital cutaneous manifestations in ID.

Main Results:

  • Identified several frequent syndromes linking ID and hirsutism.
  • Highlighted the importance of ectodermal annexes in ID diagnosis.

Conclusions:

  • Congenital hirsutism can be a marker for underlying syndromes causing intellectual disability.
  • Clinical attention to skin and ectodermal features is crucial for diagnosing ID.