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

• Dwarfism, Cerebral Atrophy and Generalized Keratosis Follicularis
• Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome

What is Keratosis Follicularis Dwarfism and Cerebral Atrophy? (Definition/Background Information)

• Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy
• It has been described in six males from one family (three boys and three maternal uncles)
• Generalized alopecia and microcephaly were also present

(Source: Keratosis Follicularis Dwarfism and Cerebral Atrophy; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Keratosis Follicularis Dwarfism and Cerebral Atrophy? (Age and Sex Distribution)

• Keratosis Follicularis Dwarfism and Cerebral Atrophy is an extremely rare congenital disorder. The presentation of symptoms may occur at birth or in infancy
• Thus far, the condition has been described in 6 male members of one family (3 children and 3 adults)
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Keratosis Follicularis Dwarfism and Cerebral Atrophy? (Predisposing Factors)

• A positive family history may be an important risk factor, since Keratosis Follicularis Dwarfism and Cerebral Atrophy can be inherited
• The male gender may be a risk factor for this condition, based on the cases reported till date

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 Keratosis Follicularis Dwarfism and Cerebral Atrophy? (Etiology)

• The exact cause of Keratosis Follicularis Dwarfism and Cerebral Atrophy is not known at the present time
• Based on the reported cases, the condition appears to be inherited in an X-linked recessive manner

X-linked recessive mode of inheritance: The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

What are the Signs and Symptoms of Keratosis Follicularis Dwarfism and Cerebral Atrophy?

The signs and symptoms of Keratosis Follicularis Dwarfism and Cerebral Atrophy may include:

• Absent eyebrow
• Absent eyelashes
• Cerebral atrophy
• Generalized keratosis follicularis
• Microcephaly
• Severe short stature

(Source: Keratosis Follicularis Dwarfism and Cerebral Atrophy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Keratosis Follicularis Dwarfism and Cerebral Atrophy Diagnosed?

Keratosis Follicularis Dwarfism and Cerebral Atrophy is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

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 Keratosis Follicularis Dwarfism and Cerebral Atrophy?

The complications of Keratosis Follicularis Dwarfism and Cerebral Atrophy may include:

• Severe dwarfism
• Severe intellectual deficiency

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

How is Keratosis Follicularis Dwarfism and Cerebral Atrophy Treated?

There is no cure for Keratosis Follicularis Dwarfism and Cerebral Atrophy, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Keratosis Follicularis Dwarfism and Cerebral Atrophy be Prevented?

Currently, Keratosis Follicularis Dwarfism and Cerebral Atrophy may not be preventable, since it is a genetic disorder.

• 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

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Keratosis Follicularis Dwarfism and Cerebral Atrophy? (Outcomes/Resolutions)

• The prognosis of Keratosis Follicularis Dwarfism and Cerebral Atrophy is poor, since affected individuals exhibit severe growth retardation and intellectual deficiency
• In 2 of the 6 reported cases, the affected individuals succumbed to the condition in childhood 

Additional and Relevant Useful Information for Keratosis Follicularis Dwarfism and Cerebral Atrophy:

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

http://www.dovemed.com/diseases-conditions/rare-disorders/