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

• ACC, Type IX
• Aplasia Cutis Congenita - Group 9 Disorder
• Aplasia Cutis Congenita associated with Malformation Syndromes

What is Aplasia Cutis Congenita, Type IX? (Definition/Background Information)

• Aplasia cutis congenita (ACC) are a group of rare congenital disorders, in which certain layers of the skin are absent from one or multiple areas on the newborn’s body. In some children, ACC can present abnormalities that involve a variety of body systems
• Aplasia Cutis Congenita, Type IX (or ACC - Group 9 Disorder) is a form of ACC based on the Frieden classification system. In this type, the congenital skin disorder is associated with a variety of genetic conditions causing malformations in the newborn child. Thus, aplasia cutis congenita occurs in combination with other syndromes
• Such malformation disorders include Patau syndrome, Wolf-Hirschhorn syndrome, Johanson-Blizzard syndrome, Goltz syndrome, Delleman syndrome, Finlay-Mark syndrome, among others. The cause and inheritance pattern depend on the syndromic condition it is associated with
• Aplasia Cutis Congenita, Type IX can result in skin lesions on the body and limbs. Other congenital deformities are observed according to the underlying condition ACC is associated with; and, the signs and symptoms of the syndrome may be generally more significant
• The treatment of Aplasia Cutis Congenita, Type IX primarily involves treating the underlying condition along-with providing apocopate skin care and therapy. The prognosis depends upon the severity of the associated syndrome and it varies from one individual to another

Who gets Aplasia Cutis Congenita, Type IX? (Age and Sex Distribution)

• Aplasia Cutis Congenita, Type IX is a rare disorder that affects newborn boys and girls
• The disorder can affect individuals of all racial and ethnic groups

What are the Risk Factors for Aplasia Cutis Congenita, Type IX? (Predisposing Factors)

The risk factors associated with development of Aplasia Cutis Congenita, Type IX include:

• Any factor that increase one’s risk for the variety of malformation disorders this ACC subtype is associated with
• The risk factors for aplasia cutis congenita include:
  • A positive family history of ACC
  • Exposure to teratogens during pregnancy: Teratogens are agents that increase the likelihood of birth defects
  • Decreased blood flow to the affected area due to poor vasculature
  • Trauma during pregnancy

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 Aplasia Cutis Congenita, Type IX? (Etiology)

The exact cause of Aplasia Cutis Congenita, Type IX is not fully-understood. The condition may be inherited autosomal dominantly or autosomal recessively, or in a sporadic manner, depending on the underlying syndromic condition it is associated with. These syndromic conditions include:

• 46XY gonadal dysgenesis
• Amniotic band disruption complex
• Delleman syndrome (oculocerebrocutaneous syndrome)
• Finlay-Mark syndrome (scalp-ear-nipple syndrome)
• Goltz syndrome
• Johanson-Blizzard syndrome
• Kabuki syndrome
• Patau syndrome (or trisomy 13)
• Setleis syndrome
• Wolf-Hirschhorn syndrome

Research suggests that ACC may develop from an interaction of multiple factors, including:

• Genetic factors
• Exposure to teratogens, which include medications such as methimazole, carbimazole, misoprostol, and valproic acid
• Abnormalities in development of skin blood vessels
• Abnormal neural tube development
• Trauma during pregnancy

What are the Signs and Symptoms of Aplasia Cutis Congenita, Type IX?

The signs and symptoms of Aplasia Cutis Congenita, Type IX may vary significantly from one individual to another. The disorder may present mild to severe developmental abnormalities depending on the underlying causative condition. The signs and symptoms may include:

• Small or large lesions on the body, limbs, face, neck, etc.
• The skin lesions may be on the surface (superficial) or involving several layers of skin tissue (deep)
• Scalp defects and hair loss (scarring alopecia) may be noted
• Developmental malformations based on the genetic condition ACC, Type IX is associated with

How is Aplasia Cutis Congenita, Type IX Diagnosed?

The following tests and exams may be used in the diagnosis of Aplasia Cutis Congenita - Group 9: 

• A complete physical examination and an assessment of the presenting symptoms
• An evaluation of the affected individual’s family medical history
• Blood tests and serum culture
• Other investigative procedures as necessary including prenatal testing, imaging scans, and tissue biopsy
• Molecular testing to aid in the diagnosis, 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 Aplasia Cutis Congenita, Type IX?

The complications of Aplasia Cutis Congenita, Type IX may include:

• Emotional distress for the child and parents/caretakers
• Ulceration and bleeding of the lesion; development of superimposed bacterial or viral infections
• Healing with scar formation
• Complications from the underlying syndrome ACC is associated with

How is Aplasia Cutis Congenita, Type IX Treated?

The following are some treatment options for Aplasia Cutis Congenita, Type IX:

• Management of congenital abnormalities: A diverse team of healthcare experts may be required to address severe cases
• Skin care: Cleaning of lesion wound, use of topical applications, and infection prevention
• Administration of antibiotics for infections in the affected area, if any
• Surgical repair of larger lesions that are less likely to heal on their own
• Skin grafting techniques, as needed

How can Aplasia Cutis Congenita, Type IX be Prevented?

Presently, there are no preventative measures available for Aplasia Cutis Congenita associated with Malformation Syndromes. However, the following may be considered to minimize one’s risk for the condition:

• If there is a family history of the condition, then genetic counseling may help assess risks, before planning for a child
• Avoiding teratogens during pregnancy, through close consultation with the healthcare provider
• Availing adequate prenatal and antenatal care (before and during pregnancy)
• Prenatal monitoring using fetal ultrasound may help detect the condition early
• 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 strongly recommended.

What is the Prognosis of Aplasia Cutis Congenita, Type IX? (Outcomes/Resolutions)

• The prognosis of Aplasia Cutis Congenita, Type IX is dependent upon the underlying causative condition and its associated abnormalities
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications. Typically, the prognosis may be assessed on a case-by-case basis
• The skin condition may resolve with adequate treatment and care; scarring may or may not be noted

Additional and Relevant Useful Information for Aplasia Cutis Congenita, Type IX:

Aplasia cutis congenita is identified as an absence of layers of skin, which may or may not also include the absence of structures such as bone or other tissue that exist underneath the skin layers.