Absence of fingerprints-congenital milia syndrome

A rare genetic disorder affecting fingerprints and skin

Absence of fingerprints-congenital milia syndrome is a rare genetic disorder characterized by the absence of fingerprints and the presence of milia, which are small, white cysts on the skin. This condition is inherited in an autosomal dominant pattern.

Genetics

The syndrome is caused by mutations in specific genes that affect the development of the epidermis, the outermost layer of the skin. The autosomal dominant inheritance pattern means that only one copy of the mutated gene, inherited from either parent, is sufficient to cause the disorder. This pattern of inheritance also implies that there is a 50% chance of passing the condition to offspring.

Clinical Features

Individuals with absence of fingerprints-congenital milia syndrome typically present with:

• Lack of dermatoglyphics, which are the ridges on the skin of the fingers, palms, toes, and soles.
• Presence of milia, which are small, keratin-filled cysts that appear as white bumps on the skin.
• Possible involvement of other skin abnormalities, although these are less common.

Diagnosis

Diagnosis of this syndrome is primarily clinical, based on the characteristic absence of fingerprints and the presence of milia. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes. Dermatological examination and family history are also important components of the diagnostic process.

Management

There is no cure for absence of fingerprints-congenital milia syndrome, and management focuses on addressing the symptoms. Treatment options may include:

• Dermatological treatments for milia, such as topical retinoids or manual extraction.
• Genetic counseling for affected individuals and their families to understand the inheritance pattern and implications.

Related pages

• Genetic disorder
• Autosomal dominant
• Dermatology
• Milia

Gallery

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  Diagram illustrating autosomal dominant inheritance.

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