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

• Autosomal Dominant Woolly Hair Syndrome
• Autosomal Recessive Woolly Hair Syndrome
• Familial Woolly Hair Syndrome 

What is Woolly Hair Syndrome? (Definition/Background Information)

• Woolly Hair Syndrome is a rare congenital disorder that is primarily characterized by the presence of woolly hair (coarse hair). The entire scalp may be affected, or the condition may be localized to a region on the scalp. Woolly Hair Syndrome may occur in isolation, or as part of other genetic disorders such as Carvajal syndrome and Naxos disease
• Currently, there are no well-defined treatment measures available for Woolly Hair Syndrome; however, the condition is known to improve as the child moves into adulthood. The outcomes are dependent upon the severity of the disorder; typically, isolated forms have better outcomes than those that are associated with syndromes

Who gets Woolly Hair Syndrome? (Age and Sex Distribution)

• Woolly Hair Syndrome is a rare congenital disorder. The presentation of symptoms may occur in early childhood or even at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Woolly Hair Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Woolly Hair Syndrome can be inherited
• Syndromic forms of Woolly Hair Syndrome are associated with the following genetic disorders:
  • Carvajal syndrome: It is a cardio-cutaneous condition that presents both skin and heart related symptoms
  • Naxos disease: It is a form of hereditary diffuse palmoplantar keratoderma seen along-with arrhythmogenic right ventricular cardiomyopathy
  • Menkes disease: It is an X-linked genetic disorder affecting copper levels in the body, manifesting as growth failure and progressive neurological symptoms
• Currently, no other risk factors have been clearly identified for Woolly Hair Syndrome

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 Woolly Hair Syndrome? (Etiology)

• When generalized forms of Woolly Hair Syndrome occur in an autosomal recessive manner, the involvement of LIPH and LPAR6 genes are noted. These are isolated forms that are not seen in a setting of any genetic syndromes
• However, when it occurs in an autosomal dominant manner, the involvement of KRT74 and KRT71 genes are noted. The generalized forms of Woolly Hair Syndrome are noted here
• Some cases of Woolly Hair Syndrome are known to occur in a sporadic manner. In such cases, a preceding family history of the condition is not seen
• Syndromic forms of Woolly Hair Syndrome are all known to occur in an autosomal recessive manner. In such cases, mutations on DSP, JUP, and ATP7A genes are noted. The syndromic forms are associated with Carvajal syndrome, Naxos disease, and Menkes disease

Autosomal dominant: 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.

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Woolly Hair Syndrome?

The signs and symptoms of Woolly Hair Syndrome may vary in severity among the affected individuals. It may include:

• Brittle and fine hair
• Woolly hair (extremely kinky hair may be noted)
• Hair that is light-colored (hypopigmented)
• Hair growth is slow

Other signs and symptoms may include:

• Eye abnormalities, including strabismus
• Sparse body hair

Syndromic forms of Woolly Hair Syndrome may present a wide range of signs and symptoms depending on the underlying genetic condition.

How is Woolly Hair Syndrome Diagnosed?

The following may be necessary for an accurate diagnosis of Woolly Hair Syndrome:

• Complete physical examination with evaluation of family medical history, including skin examination by a dermatologist
• Electron microscopy examination of hair shafts
• Trichogram to determine the anagen/catagen
• Eye examinations
• Dermoscopy: It 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
• Imaging studies and other cardiac evaluations to diagnose the genetic syndrome it is associated with (if any)
• Tissue biopsy, if required: A tissue 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
• Molecular genetic testing to check for or confirm specific causative gene mutation(s)
• Prenatal testing in pregnant women

A differential diagnosis may be necessary to eliminate other conditions that present similar signs and symptoms. This may include:

• Acquired partial kinky hair
• Acquired progressive curling of the hair
• Drug-induced kinky hair
• Holotrichia circumscripta symmetrica

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 Woolly Hair Syndrome?

The complications of Woolly Hair Syndrome may include:

• Sparse hair
• Cosmetic concerns
• Emotional stress and low self-esteem

If Woolly Hair Syndrome occurs in combination with other signs and symptoms, such as keratoderma or heart abnormalities, the following additional complications may occur:

• Recurrent skin problems
• Heart valve regurgitation: It causes the heart to pump ineffectively, such that blood flows back into the heart
• Arrhythmias: Abnormal heart rhythm, which can be triggered by physical exertion
• Heart failure owing to cardiogenic shock or reduced pumping of blood
• Heart failure that is caused by poor blood flow to the heart
• Ventricular free wall rupture, which is a tear in the muscle wall of the ventricles that can be fatal
• Sudden cardiac arrest that can be unexpected
• Embolism: Development of blood clots in the heart which may get into the bloodstream and obstruct blood supply to many important organs
• Edema: Fluid buildup in the lungs, abdomen, legs, and feet; all consequences of ineffective heart pumping
• Stroke
• End-stage heart failure, where the heart does not respond to any treatment 

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

How is Woolly Hair Syndrome Treated?

There is no cure for Woolly Hair Syndrome since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops. This may include:

• For cosmetic reasons, hair removal may be attempted through regular shaving of hair, waxing, laser therapy, and mechanical depilation (removal of body hair)
• Syndromic cases presenting systemic signs and symptoms may be treated appropriately via medications and surgery
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

How can Woolly Hair Syndrome be Prevented?

Woolly Hair Syndrome 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 Woolly Hair Syndrome? (Outcomes/Resolutions)

• The prognosis of Woolly Hair Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. It is also based on the severity of the underlying genetic disorder it is associated with (if any present)
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications. However, the condition is known to last one’s lifetime
• In some cases, the severity of the condition is known to decrease into adulthood

Additional and Relevant Useful Information for Woolly Hair Syndrome:

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

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