BASAN syndrome

Basan Syndrome: A Rare Ectodermal Dysplasia

Basan syndrome, also known as Basan-Baird syndrome or adermatoglyphia, is a rare and unique genetic disorder that affects the development of skin, hair, nails, and sweat glands. This autosomal dominant ectodermal dysplasia presents with several distinct characteristics.

Key Features:

• Congenital absence of dermatoglyphs: The most distinctive feature of Basan syndrome is the complete or partial absence of dermal ridges on palms and soles, also known as dermatoglyphics.
• Rapidly healing congenital acral bullae: Newborns with Basan syndrome often present with blisters on their hands and feet that heal rapidly.
• Congenital milia: Small, white bumps called milia are commonly found on the skin of individuals with Basan syndrome.
• Changes in nails: The nails may be thin, brittle, or have other abnormalities.
• Simian crease: A single palmar crease, also known as a simian crease, is often present.

Inheritance Pattern: Basan syndrome follows an autosomal dominant inheritance pattern, meaning that only one copy of the mutated gene is needed to express the condition. This means that if one parent has the condition, each child has a 50% chance of inheriting it.

References:

• [1] Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, ...
• [4] Basan syndrome is a rare autosomal dominant ectodermal dysplasia, characterized by rapidly healing congenital acral bullae, congenital milia and lack of ...
• [5] Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, ...

BASAN Syndrome Signs and Symptoms

BASAN syndrome, also known as absence of fingerprints-congenital milia syndrome or Baird syndrome, is a rare genetic disorder characterized by several distinct signs and symptoms.

• Complete congenital absence of dermatoglyphs: This is the hallmark sign of BASAN syndrome, where there is a complete lack of ridges on the palms and soles, resulting in the absence of fingerprints.
• Neonatal acral blisters and facial milia: Newborn babies with BASAN syndrome often have blisters on their skin and small white papules (milia) on their face.
• Adult traumatic blistering and fissuring: As people with BASAN syndrome grow older, they may experience blistering and fissuring of the skin in areas exposed to heat or friction.
• Absent or reduced sweating of palms and soles: Individuals with BASAN syndrome often have a reduced ability to sweat on their palms and soles.
• Contracture of digits: Some people with BASAN syndrome may experience contractures (stiffness) of their fingers and toes.

Additionally, some individuals with BASAN syndrome may also experience other symptoms such as:

• Single palmar transverse crease: A single crease across the palm
• Palmoplantar keratoderma: Thickening of the skin on the palms and soles
• Syndactyly: Webbing between fingers or toes
• Clinodactyly: Curvature of the little finger
• Tapered fingers: Fingers that are narrower than usual

These symptoms can vary in severity and may not be present in every individual with BASAN syndrome.

Diagnostic Tests for Basan Syndrome

Basan syndrome, also known as Basan-Baird syndrome, is a rare ectodermal dysplasia that requires accurate diagnosis to confirm the condition. The following diagnostic tests are used to diagnose Basan syndrome:

• Genetic testing: Genetic testing is the cornerstone for confirming a diagnosis of Basan syndrome [3]. By analyzing the DNA of the affected individual, healthcare providers can identify the genetic mutation responsible for the condition.
• Sequence analysis of the entire coding region: This test involves analyzing the SMARCAD1 gene to confirm the presence of the genetic mutation associated with Basan syndrome [2].
• Next-Generation (NGS)/Massively parallel sequencing: This advanced testing method is used to analyze the entire coding region of the SMARCAD1 gene and confirm the diagnosis of Basan syndrome [2].

Clinical Examination and Family History

In addition to these genetic tests, a clinical examination and family history are also essential in diagnosing Basan syndrome. The healthcare provider will examine the affected individual for symptoms such as rapidly healing congenital acral bullae, congenital milia, and adermatoglyphia [7].

Other Diagnostic Tests

While not directly related to Basan syndrome, other diagnostic tests may be performed to rule out other conditions that may present similar symptoms. These include:

• Karyotyping: This test is used to analyze the number and structure of chromosomes in the affected individual's DNA.
• Chromosomal microarray: This test is used to identify any chromosomal abnormalities that may be contributing to the condition.
• 38-gene epilepsy panel: This test is used to rule out other genetic conditions that may present with similar symptoms.

Availability and Turnaround Time

The availability and turnaround time for these diagnostic tests vary depending on the laboratory performing them. However, in general, genetic testing can take anywhere from 3-4 weeks [9].

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3 [7] Context result 7 [9] Context result 9

Treatment Options for Basan Syndrome

Basan syndrome, also known as Adermatoglyphia, is a rare genetic disorder characterized by the absence or reduction of fingerprints and other ectodermal abnormalities. While there is no specific cure for this condition, various treatment options are available to manage its symptoms.

• Topical treatments: Mild cases of Basan syndrome may be treated with topical creams or ointments to help soften and remove milia (small, white bumps on the skin). Fractional carbon dioxide laser therapy has also been used to treat hypohidrotic ectodermal dysplasia, a related condition.
• Oral medications: In some cases, oral medications such as triamcinolone may be prescribed to help manage symptoms. However, these treatments are typically reserved for more severe cases or when other treatments have failed.

Important Considerations

It's essential to note that Basan syndrome is a rare and complex condition, and treatment options may vary depending on the individual case. As with any medical condition, it's crucial to consult with a qualified specialist for proper diagnosis and treatment.

• No replacement for professional care: The material provided should not be used as a basis for diagnosis or treatment without consulting a qualified healthcare professional (Source: [6]).

Current Research and Developments

Research into Basan syndrome is ongoing, and new treatments are being explored. For example, inverse lichenoid drug eruptions associated with nivolumab have been reported in some cases (Source: [9]). However, more studies are needed to fully understand the condition and develop effective treatment options.

References:

• [1] Xiong Y et al. (2022) - This study aimed to identify pathogenic gene mutations in Basan syndrome and discover possible associations with cSCC.
• [3] A study published on May 10, 2022, aimed at identifying related gene mutations in a new Chinese pedigree with Basan syndrome.
• [9] Burger B et al. (2011) - Analysis of two candidate genes for basan syndrome.

Please note that the information provided is based on the search results and may not be comprehensive or up-to-date. If you have any further questions or concerns, please feel free to ask!

BASAN syndrome, also known as Basan's syndrome, is a rare autosomal-dominant inherited dermatosis characterized by profuse milia, reticulate pigmentation, and nail dystrophy [8]. When considering the differential diagnosis for BASAN syndrome, several conditions should be taken into account.

• Epidermolysis bullosa simplex 1A, generalized severe: This condition presents with skin blistering and can have similar symptoms to BASAN syndrome. However, it is a distinct entity with its own set of characteristics [10].
• Brooke-Spiegler syndrome: This rare genetic disorder also involves the development of milia and other ectodermal dysplasia features, making it a potential differential diagnosis for BASAN syndrome [10].
• Epidermolysis bullosa pruriginosa: A rare form of epidermolysis bullosa that can present with skin blistering and may be considered in the differential diagnosis for BASAN syndrome due to overlapping symptoms [10].
• Milia: While milia are a hallmark feature of BASAN syndrome, they can also occur as an isolated condition or as part of other ectodermal dysplasias. Therefore, a diagnosis of milia alone should not be considered definitive without further investigation [9].

It is essential to note that the differential diagnosis for BASAN syndrome involves a range of conditions, and accurate diagnosis requires a comprehensive evaluation by a qualified healthcare professional.

References: [8] Oct 22, 2024 — These findings correspond to the syndrome known as Basan's syndrome, a rare autosomal-dominant inherited dermatosis characterized by profuse ... [9] by AKC Leung · Cited by 1 — The differential diagnosis of primary milia includes sebaceous hyperplasia, syringomas, molluscum contagiosum, lichen nitidus, closed comedones, cutaneous ... [10] ... Basan syndrome. Brooke-Spiegler syndrome. Epidermolysis bullosa pruriginosa. Epidermolysis bullosa simplex 1A, generalized severe. Epidermolysis bullosa simplex ...