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Generalized hypertrichosis syndromes in Mexico.

Thania Alejandra Aguayo-Orozco1,2, Blanca Estela Ríos-González3, Anna Gabriela Castro-Martínez4

  • 1División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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Hypertrichosis is a rare genetic condition causing excessive hair growth. This study reviews three congenital syndromes in Mexico, aiding in understanding and treatment of this condition.

Keywords:
Cantú syndromeMexicoX-linkedatavismhypertrichosis

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Area of Science:

  • Genetics
  • Dermatology
  • Rare Diseases

Background:

  • Hypertrichosis is characterized by excessive hair growth in non-androgen-dependent areas.
  • Congenital generalized hypertrichosis terminalis presents as a rare condition with distinct syndromes.

Purpose of the Study:

  • To identify and describe three main congenital generalized hypertrichosis terminalis syndromes documented in Mexico.
  • To provide a foundation for understanding the genetic and pathophysiological basis of hypertrichosis.

Main Methods:

  • Literature review and clinical case analysis of documented hypertrichosis syndromes.
  • Genetic analysis of causative genes for identified syndromes.

Main Results:

  • Three distinct syndromes of congenital generalized hypertrichosis terminalis identified: X-linked generalized hypertrichosis, Cantú syndrome (hypertrichotic osteochondrodysplasia), and congenital hypertrichosis terminalis with or without gingival hyperplasia.
  • Cantú syndrome is associated with pathogenic variants in ABCC9 and KCNJ8.
  • Two syndromes were described by Mexican geneticist José María Cantú, with atavistic genes proposed as an explanation.

Conclusions:

  • Understanding the genetic underpinnings of these hypertrichosis syndromes is crucial for diagnosis.
  • Knowledge of hypertrichosis pathophysiology can lead to effective patient treatments and management of aesthetic concerns.