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

• ACC, Type VII
• Aplasia Cutis Congenita - Group 7 Disorder
• Aplasia Cutis Congenita of Limb without Epidermolysis Bullosa

What is Aplasia Cutis Congenita, Type VII? (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 VII (or ACC - Group 7 Disorder) is a form of ACC based on the Frieden classification system. It is a type of congenital skin disorder that shows an absence of skin only on the extremities (lower legs). The condition is also characterized by an absence of other abnormalities
• ACC, Type VII is also known as Aplasia Cutis Congenita of Limb without Epidermolysis Bullosa, meaning no blistering is observed. The exact cause and pattern of inheritance of the condition is unknown, but it may be related to genetic factors. Other contributory factors may include exposure to toxins during pregnancy and trauma
• Aplasia Cutis Congenita, Type VII can result in loss of skin on feet and mostly lower limbs; no blistering of skin is noted. Other anomalies or deformities are not frequently noted, which is a distinctive feature of ACC, Type VII
• The treatment of Aplasia Cutis Congenita, Type VII may involve the use of medications and surgery, if needed. The prognosis depends upon the severity of the disorder but is generally good in many cases

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

• Aplasia Cutis Congenita, Type VII 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 VII? (Predisposing Factors)

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

• A positive family history of aplasia cutis congenita (ACC) may be a risk factor
• 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 VII? (Etiology)

The exact cause of Aplasia Cutis Congenita, Type VII is not fully-understood; the condition may be inherited or develop sporadically.

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 VII?

The signs and symptoms of Aplasia Cutis Congenita, Type VII vary from one individual to another. The presence of the ACC lesion at birth (lesion on the scalp) is the key symptom of the condition. There is also a notable absence of any developmental abnormality, which is unique to this ACC subtype.

• A vast majority of individuals have large lesions on the lower limbs that is caused by an absence of skin covering
• The skin lesions may be on the surface (superficial) or involving several layers of skin tissue (deep)
• The locations may include the pre-tibial region of lower legs and dorsal regions of the feet
• The dorsal region of the hands may also show skin anomalies

How is Aplasia Cutis Congenita, Type VII Diagnosed?

The diagnosis of Aplasia Cutis Congenita, Type VII may be made by identifying characteristic skin lesions that are isolated to the lower limbs. After this identification, a healthcare provider is likely to further characterize the condition by: 

• A complete physical examination and an assessment of symptoms
• An evaluation of the affected individual’s family medical history
• Blood tests and serum culture
• Other investigative procedures as necessary including imaging scans and tissue biopsy
• Molecular testing may aid in the diagnosis, if needed

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 VII?

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

• Emotional distress for the child and parents/caretakers
• Ulceration and bleeding of the lesion
• Susceptibility of lesion to injury following minor trauma
• Superimposed bacterial or viral infections
• Healing with scar formation
• If the forearms are involved, dysplasia (malformation) of the radial bone of the forearm may be seen

How is Aplasia Cutis Congenita, Type VII Treated?

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

• Wait and watch approach for mild cases: Observation, 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

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

How can Aplasia Cutis Congenita, Type VII be Prevented?

Presently, there are no preventative measures available for aplasia cutis congenita. However, the following may be considered to minimize one’s risk for Aplasia Cutis Congenita, Type VII.

• Avoiding teratogens during pregnancy, through close consultation with the healthcare provider
• Availing adequate prenatal and antenatal care (before and during pregnancy)
• If there is a family history of the condition, then genetic counseling may 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 such as aplasia cutis congenita

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

The prognosis of Aplasia Cutis Congenita, Type VII is generally good. The skin condition is known to resolve with adequate treatment and care; no extensive scarring is normally noted.

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

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.