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SUMMARY

SUMMARY

  • Hereditary hair disorders have diagnostic and therapeutic challenges.

  • Clinical evaluation and genetic testing are essential.

  • Family counseling is vital to improve the quality of life.

TIPS FOR DIAGNOSIS

  • Detailed personal and family history are important.

  • Head to toes clinical examination is crucial.

  • Trichoscopy is a helpful, quick, and non-invasive instrument.

TIPS FOR TREATMENT

  • Some hereditary hair disorders improve with aging.

  • Other disorders might respond to Minoxidil therapy.

  • Gentle hair care is advised and the use of wigs can be considered.

DON’T FORGET

  • Full body examination.

  • Use of dermoscope.

  • Family counseling.

PITFALLS AND CAUTIONS

  • Hereditary hair disorders are tricky and sometime are misdiagnosed as androgenetic alopecia.

  • Topical minoxidil in children should be used under adult supervision to avoid accidental ingestion and poisoning.

EXPERT PEARLS

  • Do not forget to examine eyebrows and eyelashes.

  • Trichoscopy is a rapid painless diagnostic tool in hair shaft disorders in children.

PATIENT EDUCATION POINTS

  • Some hereditary hair disorders might improve with aging.

  • Gentle hair care and styling.

  • Sometimes a wig is the only solution.

INTRODUCTION

Alopecia in children has diagnostic and therapeutic challenges and impact the quality of life for both patients and their parents. Hereditary hair disorders can cause severe hair loss and might be a part of a multisystem syndrome. In this chapter we will discuss hypotrichosis, hair shaft disorders (with and without hair fragility), ectodermal dysplasia, and miscellaneous genetic disorders associated with hair loss.

EPIDEMIOLOGY

Hereditary hair disorders are groups of genetic disorders that are generally uncommon. It is usually manifested in early childhood. The offspring of consanguineous marriages may be at higher risk for hereditary disorders because of the expression of autosomal recessive gene mutation.1 Each disease has its own mode of inheritance and the genetic defect is identified in most of the hereditary hair disorders (Table 22.1).

TABLE 22.1

Clinical Features and Genetic Defects of Hereditary Hair Disorders

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