What are the other Names for this Condition? (Also known as/Synonyms)

• Hypertrichosis Lanuginosa Congenita
• Hypertrichosis Lanuginosa Universalis
• Hypertrichosis Universalis

What is Congenital Hypertrichosis Lanuginosa? (Definition/Background Information)

• Congenital Hypertrichosis Lanuginosa (CHL) is a highly uncommon skin condition that is marked by the abnormal appearance of fine unpigmented (lanugo) hair, typically on the face and trunk, with other signs and symptoms. The cause of the condition is unknown, but experts believe that it may be genetic
• The management of Congenital Hypertrichosis Lanuginosa mainly includes hair removal through repeated shaving, use of hair removal topical agents, electrolysis, waxing, or laser therapy. The other presentations may be resolved via symptomatic treatment. The overall outcomes are generally good, but the condition is known to persist throughout one’s entire lifetime

Who gets Congenital Hypertrichosis Lanuginosa? (Age and Sex Distribution)

• Congenital Hypertrichosis Lanuginosa is an extremely rare congenital disorder. The onset of symptoms occur after birth of the child
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Congenital Hypertrichosis Lanuginosa? (Predisposing Factors)

• A positive family history may be an important risk factor, since Congenital Hypertrichosis Lanuginosa may be inherited
• Currently, no risk factors have been clearly identified for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Hypertrichosis Lanuginosa? (Etiology)

Experts believe that Congenital Hypertrichosis Lanuginosa (CHL) is a genetic condition that may occur sporadically due to spontaneous mutations or is inherited from the family in an autosomal dominant manner. However, the exact cause of development of CHL is unknown.

• The terminology hypertrichosis lanuginosa indicates an abnormal hair growth on the body (or hypertrichosis) consisting of lanugo hairs
• Lanugo hairs are the first (thin, soft, and colorless) hairs formed by fetal hair follicles usually around 12-16 weeks of gestation
• These are normally shed prior to birth but may be sometimes seen at birth, disappearing within a few weeks thereafter. In CHL, the excess hair growth is seen after birth and may last a lifetime

Autosomal dominant pattern of inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition, or pass it on to their offspring.

What are the Signs and Symptoms of Congenital Hypertrichosis Lanuginosa?

The signs and symptoms of Congenital Hypertrichosis Lanuginosa may vary in severity among the affected individuals. It may include

• Presence of excessive (lanugo) hair growth in the newborn baby
• The hair is fine, thin, and silky in texture. The hair is typically colorless or unpigmented
• The hair grows continuously, mostly on the face, trunk, and limbs
• The mucosal membranes and palms and soles, typically do not present an abnormal hair growth

Additionally, the following signs and symptoms may be noted:

• Thick eyebrows
• Abnormal skin pigmentation
• Delays in reaching some milestones such as delayed teeth eruption
• Hearing impairment
• High blood pressure

How is Congenital Hypertrichosis Lanuginosa Diagnosed?

Congenital Hypertrichosis Lanuginosa is diagnosed on the basis of the following information:

• Physical examination of the individual and family medical history evaluation
• Dermoscopy: Dermoscopy is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Skin biopsy: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Hypertrichosis Lanuginosa?

The complications of Congenital Hypertrichosis Lanuginosa may include:

• Low self-esteem due to cosmetic (hairy) appearance
• Congenital adrenal hyperplasia
• Urinary system abnormalities
• Primary hyperaldosteronism
• Growth delays
• Persistence of abnormal hair growth throughout one’s life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Congenital Hypertrichosis Lanuginosa Treated?

There is no cure for Congenital Hypertrichosis Lanuginosa since it is reportedly a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

• For cosmetic reasons, hair removal may be attempted through regular shaving of hair, waxing, application of topical creams, laser therapy, and chemical or mechanical depilation (removal of body hair)
• Other treatment methods are largely symptomatic and supportive
• Regular follow up visits with the healthcare provider is important and highly recommended

How can Congenital Hypertrichosis Lanuginosa be Prevented?

Currently, Congenital Hypertrichosis Lanuginosa may not be preventable since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Congenital Hypertrichosis Lanuginosa? (Outcomes/Resolutions)

• The prognosis of Congenital Hypertrichosis Lanuginosa is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications. However, the condition is known to last one’s lifetime

Additional and Relevant Useful Information for Congenital Hypertrichosis Lanuginosa:

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/healthy-living/skin-disorders/