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

• Cardiomyopathy Hypogonadism Collagenoma Syndrome
• Familial Cutaneous Collagenoma Syndrome
• Inherited Cutaneous Collagenoma

What is Familial Cutaneous Collagenoma? (Definition/Background Information)

• Familial Cutaneous Collagenoma (FCC) is a genetic disorder that manifests as numerous subcutaneous nodules along-with heart, ear, eye, and gonadal abnormalities. It is an extremely rare disorder that is observed in adolescents
• The disorder is transmitted in an autosomal dominant manner (a positive family history is noted). Familial Cutaneous Collagenoma is an incurable condition; it is treated symptomatically, and the overall prognosis depends on the severity of the disorder and associated complications

Who gets Familial Cutaneous Collagenoma? (Age and Sex Distribution)

• Familial Cutaneous Collagenoma is an extremely uncommon congenital disorder. Worldwide, only about 10 families have been recorded with the condition
• The presentation of symptoms typically occurs during adolescence (between 15 and 19 years); although, onset of the condition has been reported in children as young as 4 years
• Both males and females are affected, and no gender preference is noted
• Individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Familial Cutaneous Collagenoma? (Predisposing Factors)

• A positive family history may be an important risk factor, since Familial Cutaneous Collagenoma can be inherited
• Currently, no other risk factors have been clearly identified for the disorder

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 Familial Cutaneous Collagenoma? (Etiology)

• Familial Cutaneous Collagenoma may be caused by mutation(s) in the LEMD3 gene
• This gene codes for a protein that negatively regulates bone morphogenic protein (or BMP); however, bone abnormalities are not noted
• The disorder follows an autosomal dominant mode of transmission

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 Familial Cutaneous Collagenoma?

The signs and symptoms of Familial Cutaneous Collagenoma may vary from one individual to another and may include:

• Presence of multiple skin-colored nodules, or collagenomas, on the arms, shoulders, and trunk (chest and back)
• The nodules may be symmetrically placed on the body
• These nodules do not present any pain or discomfort
• Small-sized lesions may appear as miliaria
• They may range in size from few millimeters to centimeters
• Increase in the number of lesions during pregnancy may be observed
• Heart abnormalities that may include cardiomyopathy, angina pectoris, and heart valve defects, are sometimes observed
• Rarely, partial hair loss, eye defects, and blood vessel anomalies may be seen

How is Familial Cutaneous Collagenoma Diagnosed?

Familial Cutaneous Collagenoma is diagnosed on the basis of the following information:

• Physical examination of the individual and medical history evaluation
• Complete blood count (CBC) test and urinalysis
• Cholesterol tests
• 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
• Hearing loss related tests and evaluations
• Electrocardiogram (ECG), to measure the heart’s electrical activity
• Echocardiogram, to get a detailed picture of the heart
• Exercise stress test, to see how exercise affects the heart
• Skin biopsy, if necessary: 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

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

• Buschke-Ollendorff syndrome
• Eruptive collagenoma
• Multiple endocrine neoplasia, type 1
• Shagreen patch
• White fibrous papulosis of the neck

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 Familial Cutaneous Collagenoma?

The complications of Familial Cutaneous Collagenoma may include:

• Cosmetic concerns and low self-esteem
• Increased eye pressure due to iris atrophy; risk of vision loss
• Edema: Fluid buildup in the lungs, abdomen, legs, and feet; all consequences of ineffective heart pumping 
• Heart related complications may rarely include:
  • Congestive heart failure
  • 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, and may be fatal
  • Sudden cardiac arrest that can be unexpected
  • End-stage heart failure, where the heart does not respond to any treatment
• Primary testicular failure in boys and men
• Sensorineural hearing impairment and deafness
• Embolism: Development of blood clots in the heart which may get into the bloodstream and obstruct blood supply to many important organs
• Stroke

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

How is Familial Cutaneous Collagenoma Treated?

There is no cure for Familial Cutaneous Collagenoma, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops. These may include:

• Administration of medications
• Surgical corrections and procedures for the heart, eye, and other complications
• Hearing impairment may be treated via the use of hearing aids and cochlear implants, if needed
• Rehabilitation

How can Familial Cutaneous Collagenoma be Prevented?

Familial Cutaneous Collagenoma 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 genetic disorders such as Familial Cutaneous Collagenoma
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Familial Cutaneous Collagenoma? (Outcomes/Resolutions)

• The prognosis of Familial Cutaneous Collagenoma 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. Typically, the prognosis may be only assessed on a case-by-case basis

Additional and Relevant Useful Information for Familial Cutaneous Collagenoma:

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

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