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Hypertrichosis lanuginosa – Causes and Treatment

Hypertrichosis lanuginosa is a rare condition characterized by the excessive growth of fine, lanugo-like hair covering the body. It may be congenital or acquired.

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Things worth knowing about "Hypertrichosis lanuginosa"

Hypertrichosis lanuginosa is a rare condition characterized by the excessive growth of fine, lanugo-like hair covering the body. It may be congenital or acquired.

What is Hypertrichosis lanuginosa?

Hypertrichosis lanuginosa is an extremely rare medical condition characterized by the abnormal growth of fine, soft lanugo-type hair across the body. Lanugo hair resembles the delicate hair that covers a fetus in the womb and is normally shed before or shortly after birth. In individuals with this condition, however, such hair continues to grow and can cover most of the body, including the face. The condition is divided into two main forms: the congenital form (Hypertrichosis lanuginosa congenita) and the acquired form (Hypertrichosis lanuginosa acquisita).

Causes

Congenital Form

Congenital hypertrichosis lanuginosa is a genetic disorder, typically inherited in an autosomal dominant pattern. Research suggests that a mutation or chromosomal change in the X chromosome region (Xq24-q27.1) may be responsible. In this form, the lanugo hair that normally disappears before birth persists and continues to grow throughout life.

Acquired Form

The acquired form most commonly develops in adulthood and is frequently associated with an underlying systemic disease. It is well recognized as a paraneoplastic syndrome, meaning it may signal the presence of an internal malignancy. Commonly associated cancers include:

  • Colorectal carcinoma
  • Lung cancer (bronchial carcinoma)
  • Breast cancer (mammary carcinoma)
  • Bladder and uterine cancer

Other possible causes of the acquired form include:

  • Anorexia nervosa and other eating disorders
  • Certain medications (e.g., cyclosporine, minoxidil, phenytoin)
  • Hypothyroidism (underactive thyroid)
  • Porphyria (metabolic disorder)

Symptoms

The hallmark feature of hypertrichosis lanuginosa is the appearance of long, fine, soft, and often unpigmented or lightly pigmented hair covering the body. Key symptoms include:

  • Excessive hair growth on the face, particularly on the forehead, cheeks, and ears
  • Spread of fine hair across the trunk, arms, and legs
  • In the acquired form: possible concurrent glossitis (inflammation of the tongue) and papillary changes of the tongue surface
  • In the congenital form: hair growth present from birth, often accompanied by other anomalies such as cleft palate or dental abnormalities

Diagnosis

The diagnosis of hypertrichosis lanuginosa is primarily clinical, based on the characteristic appearance of the hair. In cases of the acquired form, a thorough investigation to identify any underlying cause is essential and may include:

  • Laboratory tests: Complete blood count, thyroid function tests, tumor markers
  • Imaging studies: Computed tomography (CT), magnetic resonance imaging (MRI), or positron emission tomography (PET-CT) to screen for malignancy
  • Skin biopsy: For histological analysis of hair follicles
  • Genetic testing: When the congenital form is suspected

Treatment

Treatment of the Congenital Form

There is currently no curative treatment for congenital hypertrichosis lanuginosa. Management focuses on cosmetic hair removal methods, including:

  • Shaving and epilation
  • Laser hair removal
  • Chemical depilatory agents

Treatment of the Acquired Form

For the acquired form, treating the underlying condition is the primary therapeutic goal. Successful treatment of an associated tumor may lead to regression of the hypertrichosis. Cosmetic hair removal options are also available as supportive measures.

Psychosocial Impact

Due to its striking appearance, hypertrichosis lanuginosa can have a significant psychosocial impact on affected individuals. Social stigma, reduced self-esteem, and emotional distress are common challenges. Psychological support and access to patient support groups are therefore important components of holistic care for those living with this condition.

References

  1. Wendelin, D. S., Pope, D. N., Mallory, S. B. (2003). Hypertrichosis. Journal of the American Academy of Dermatology, 48(2), 161-181.
  2. Freinkel, R. K., Woodley, D. T. (Eds.) (2001). The Biology of the Skin. Parthenon Publishing.
  3. National Organization for Rare Disorders (NORD): Hypertrichosis. Available at: https://rarediseases.org

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