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

• Absence of Dermatoglyphics Congenital Milia
• Adermatoglyphia with Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities
• Baird Syndrome

What is Absence of Fingerprints Congenital Milia Syndrome? (Definition/Background Information)

• Absence of Fingerprints Congenital Milia Syndrome is a highly uncommon congenital condition observed in infancy that is characterized by blisters and milia (small white papules on the face) and an absence of ridges on their palms and soles (termed adermatoglyphia)
• Additionally, some affected children also exhibit finger and toe contractures and webbing of the toes. The cause of the condition is due to genetic factors and Absence of Fingerprints Congenital Milia Syndrome is inherited as an autosomal dominant manner
• A management of the condition includes treating the signs and symptoms via topical applications, laser therapy, and surgery to correct limb defects. In most individuals with Absence of Fingerprints Congenital Milia Syndrome, the prognosis is good with appropriate therapy

Who gets Absence of Fingerprints Congenital Milia Syndrome? (Age and Sex Distribution)

• Absence of Fingerprints Congenital Milia Syndrome is a very rare congenital disorder. Only about 50 cases or fewer have been reported in the medical literature
• The onset of signs and symptoms occur following the birth of the child (neonatal presentation)
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Absence of Fingerprints Congenital Milia Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Absence of Fingerprints Congenital Milia Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

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 Absence of Fingerprints Congenital Milia Syndrome? (Etiology)

The exact genetic cause of Absence of Fingerprints Congenital Milia Syndrome is not known.

• It has been suggested that mutation(s) in the SMARCAD1 gene may play a role in the development of the syndrome
• The disorder is inherited in an autosomal dominant manner

Autosomal dominant: 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 Absence of Fingerprints Congenital Milia Syndrome?

The signs and symptoms of Absence of Fingerprints Congenital Milia Syndrome that are noted in infants and very young children include:

• Abnormal blistering of the skin
• Abnormal dermatoglyphics (the pattern of ridges on the palms, soles, and digits, which consists of arches, whorls, and loops)
• An absence of crease on the palms/soles can result in reduced friction generation, which can lead to:
  • Difficulty in gripping or holding smooth surfaced items
  • Difficulty in walking barefoot on polished/smooth floors
• Milia or tiny white cysts, mostly on the face of the baby
• Other forms of skin rashes
• Thickened or thin skin
• Decreased sweating (hypohidrosis)
• Permanently bent (camptodactyly) finger or toe
• Webbing of the toes

How is Absence of Fingerprints Congenital Milia Syndrome Diagnosed?

Absence of Fingerprints Congenital Milia Syndrome is diagnosed on the basis of the following information:

• Physical examination of the individual and medical history evaluation
• Assessment of the presenting signs and symptoms
• 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
• 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
• Molecular genetic testing to check for or confirm specific causative gene mutation(s)
• Prenatal testing including abdominal ultrasound scans

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

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 Absence of Fingerprints Congenital Milia Syndrome?

The complications of Absence of Fingerprints Congenital Milia Syndrome may include:

• Extreme discomfort due to blistering of skin and fissures in very cold or hot conditions
• Difficulty with gripping objects due to contractures in fingers; difficulty wearing footwear
• Inability to be identified by one’s fingerprints, which may cause many legal hardships for some individuals lifelong
• Amniotic constriction ring causing constriction of a digit or limb; it can lead to intrauterine growth retardation (IUGR) in some cases

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

How is Absence of Fingerprints Congenital Milia Syndrome Treated?

There is no cure for Absence of Fingerprints Congenital Milia Syndrome since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops. The treatment measures may include:

• Topical retinoids
• Laser ablation therapy and cryotherapy, if necessary
• Surgical correction of finger and toe contractures, and webbed fingers and toes
• There is no available treatment for adermatoglyphia

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

How can Absence of Fingerprints Congenital Milia Syndrome be Prevented?

Absence of Fingerprints Congenital Milia Syndrome 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

Prenatal monitoring using fetal ultrasound may help detect amniotic band syndrome early.

What is the Prognosis of Absence of Fingerprints Congenital Milia Syndrome? (Outcomes/Resolutions)

• The prognosis of Absence of Fingerprints Congenital Milia Syndrome is dependent upon the severity of the signs and symptoms and associated complications
• In many cases, the syndrome is not life-threatening, and it can be adequately treated to result in good outcomes. Most of the affected individuals are reported to live past adulthood

Additional and Relevant Useful Information for Absence of Fingerprints Congenital Milia Syndrome:

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

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