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Basan syndrome

 Basan syndrome



overview

Basan syndrome is a rare, inherited skin disorder, specifically an autosomal dominant ectodermal dysplasia, characterized by the absence of fingerprints, congenital facial milia, rapidly healing neonatal blisters on the hands and feet, and reduced sweating. Other features can include digital contractures, thickened skin on palms and soles (palmoplantar keratoderma), nail abnormalities, and single transverse palmar crease. Caused by mutations in the SMARCAD1 gene, it affects the development of epidermal ridges and sweat glands. 

Symptoms

Skin & Fingerprints

Congenital absence of fingerprints (Adermatoglyphia): A defining characteristic, with smooth skin on the palms and soles. 

Transient congenital milia: Small, white, keratin-filled cysts that appear on the face and other areas shortly after birth and usually resolve. 

Neonatal acral bullae: Blistering, often on the fingers and soles, that heals rapidly in the neonatal period. 

Palmoplantar keratoderma: Thickened, rough, and calloused skin on the palms and soles, which can lead to fissures and blistering with temperature changes. 

Sweating 

Hypohidrosis: A reduced or absent ability to sweat, which can lead to problems with temperature regulation, particularly in infants.

Limbs & Skeletal System 

Single transverse palmar crease: A single crease across the palm.

Tapered fingertips: Fingers that are narrow at the tips.

Digit contractures: Flexion contractures of the fingers and toes.

Nail dystrophy: Rough nails with grooves and ridges.

Syndactyly: Webbing or fusion of fingers or toes.

Other Features 

Hypermelanotic macules: Brownish spots on the hands and feet.

Knuckle pads: Thickened skin over the knuckles.

Cold sensitivity: Increased sensitivity to cold temperatures on the hands and feet.

Causes

Genetic Basis

SMARCAD1 Gene: The condition is due to mutations in the SMARCAD1 gene located on chromosome 4. 

Skin-Specific Isoform: The mutations typically affect the alternative exon 1 of the skin-specific isoform of the SMARCAD1 protein, which is important for normal skin and fingerprint development. 

Inheritance: It is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is sufficient to cause the disorder. 

How the Genetic Mutation Causes Symptoms

Adermatoglyphia: The SMARCAD1 gene's function is crucial for the development of epidermal ridges that form fingerprints, and mutations disrupt this process, resulting in absent or reduced fingerprints. 

Congenital Milia: The genetic changes also lead to the formation of transient milia, which are small, white bumps that appear on the skin at birth. 

Neonatal Acral Bullae: Another key feature is the development of fluid-filled blisters (bullae) on the palms and soles shortly after birth. 

Reduced Sweating: Individuals with Basan syndrome often have a decreased number of sweat glands, which can make them prone to overheating. 

Diagnosis

Clinical Evaluation: A doctor will look for the characteristic physical signs of Basan syndrome: 

Absence of fingerprints (adermatoglyphia): This is a defining feature, where the ridged patterns on the palms and soles are missing. 

Congenital Milia: Tiny, white bumps that appear on the face at birth. 

Neonatal Acral Bullae and Erosions: Blisters and erosions on the hands and feet (acral areas) that appear at birth and heal quickly. 

Absent or Reduced Sweating: A lack of sweating, particularly on the palms and soles. 

Other Features: Some affected individuals may also have finger flexion contractures (bent fingers) or webbing of the toes. 

Genetic Testing: This is crucial for confirming the diagnosis. 

Targeted Gene Sequencing: Molecular genetic tests can be performed to look for mutations in the SMARCAD1 gene. 

Sanger Sequencing: This method is used to analyze the SMARCAD1 gene's coding regions and splice junctions for alterations. 

Treatment

Symptom Management & Precautions

Temperature Regulation:

Continuous Monitoring: Essential for infants and neonates due to a reduced number of sweat glands. 

Avoid Anticholinergics: Premedication with drugs like atropine should be avoided in young patients to prevent hyperthermia and abnormal body temperature regulation. 

Skin Care:

Blister and Fissure Care: Due to adult traumatic blistering and fissuring, careful management of these skin issues is necessary. 

Vascular Access: Difficulty in establishing vascular access in extremities can occur because of the skin's leather-like texture. 

Treatment for Severe Cases:

Intravenous Immunoglobulins (IVIG): In a severe bullous disease case, IVIG was used successfully to achieve remission. 

Understanding the Condition

Rare Genetic Disorder: Basan syndrome is a rare, autosomal dominant genodermatosis characterized by congenital absence of dermatoglyphs (fingerprint patterns). 

Key Features: Other symptoms include facial milia, neonatal acral (limb) blisters, absent or reduced sweating, traumatic blistering/fissuring in adulthood, and digit contractures. 

Genetic Basis: The syndrome is caused by variants in the skin-specific isoform of the SMARCAD1 gene. 

Type of Doctor Department : A dermatologist

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