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

• ACC, Type V
• Aplasia Cutis Congenita with Fetus Papyraceus
• Aplasia Cutis Congenita - Group 5 Disorder

What is Aplasia Cutis Congenita, Type V? (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 V (or ACC - Group 5 Disorder) is an extremely rare and severe form of ACC based on the Frieden classification system. It is a congenital skin disorder presenting lesions at non-scalp skin areas and associated with fetus papyraceus or placental infarct
• ACC, Type V is associated with multiple pregnancy, such as twin pregnancy, where there is a death of one of the fetuses that occurs towards the end of the first trimester or at the beginning of the second trimester; the fetal remnants desiccate and mummify to form fetus papyraceus
• The cause and inheritance pattern of Aplasia Cutis Congenita, Type V is unknown; it is believed to be related to genetic factors. Other contributory factors include exposure to toxins during pregnancy and trauma
• In the surviving newborn, Aplasia Cutis Congenita, Type V can present extensive symmetric lesions on the thighs and buttocks. It may be seen in association with other conditions, such as amniotic band syndrome, presenting severe congenital deformities
• The treatment of Aplasia Cutis Congenita, Type V may involve the use of medications and surgery, if needed. The prognosis depends upon the severity of the disorder and varies from one individual to another

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

• Aplasia Cutis Congenita, Type V is a highly uncommon disorder that affects newborn boys and girls
• A manifestation of the condition occurs during the fetal stage (during pregnancy)
• The disorder can affect individuals of all racial and ethnic groups

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

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

• A positive family history of 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
• Multiple pregnancies

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 V? (Etiology)

The exact cause of Aplasia Cutis Congenita, Type V is not fully-understood. The inheritance pattern is not established.

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

Often, there is demise of one of the fetuses in a twin/multiple pregnancy that occurs in late first trimester or early second trimester, leaving behind a compressed residual tissue (called fetus papyraceus). The surviving child may present mild to severe congenital abnormalities.

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

The signs and symptoms of Aplasia Cutis Congenita, Type V vary from one individual to another. While the presence of the ACC lesions at birth is the key symptom of the condition, there may be several other congenital abnormalities.

• A vast majority of individuals have a large lesion on the scalp with hair loss
• The skin lesions may be on the surface (superficial) or involving several layers of skin tissue (deep)
• Presence of extensive skin lesions on the body and limbs of the child; the presentations are often linear and symmetric
• The areas of skin involvement include the trunk, buttocks, and thighs
• Other developmental abnormalities/malformations may be noted in the surviving child

How is Aplasia Cutis Congenita, Type V Diagnosed?

The diagnosis of Aplasia Cutis Congenita, Type V may be made by identifying characteristic lesions of the condition and associated anomalies. 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 prenatal imaging scans
• Molecular testing, as 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 V?

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

• Emotional distress for the child and parents/caretakers
• Ulceration and bleeding of the lesion; superimposed bacterial or viral infections
• Intra-uterine growth retardation (IUGR)
• Severe symptoms causing reduced quality of life
• Maternal complications
• Fetal demise and stillbirths

How is Aplasia Cutis Congenita, Type V Treated?

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

• Close fetal monitoring during the pregnancy is important and necessary
• After the fetus is delivered, the newborn infant may be placed in intensive care; surgeries to correct the defects, if necessary
• Wait and watch approach for mild cases: Observation, cleaning of lesion wound, use of topical applications, and infection prevention
• Surgical repair of larger lesions that are less likely to heal on their own
• Management of abnormalities following birth of the child; a diverse team of specialists may be required to address severe cases

How can Aplasia Cutis Congenita, Type V 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 V.

• 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
• 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

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

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

• The prognosis of Aplasia Cutis Congenita, Type V is dependent upon the severity of the condition
• The prognosis may be adversely affected by the presence of multiple abnormalities and complications that arise in the fetus/child

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

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.