Basan syndrome

What is Basan syndrome?

Basan syndrome is a rare disease. It is also known as Basan Syndrome Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes In Nails, And Simian Crease.

This condition is characterised by a dry skin, hypohidrosis, and thin scalp hair which might be present from birth in some cases, whereas in others there is a full head of hair which is coarse and dry. The nails are dystrophic and the teeth are abnormal. Facially the nose is thin and the alae nasi underdeveloped. The palpebral fissures are narrow. All the major joints are hyperextensible and the dermal ridges are said to be fine. Most patients have had bilateral single palmar creases or absent dermatoglyphics. Milia and acral bullae are also features (Rutter and Judge, 2009).
The disorder is caused by SMARCAD1 mutations.
In the family described by Marks et al., (2014), many members had congenital facial milia and congenital absence of dermatoglyphics. In some there were congenital skin erosions.
Li et al., (2016) reported a family with eight patients affected with Basan syndrome. The main features were skin blistering, congenital milia, adermatoglyphia, mild to severe contractures of digits, hypohidrosis, and mild to severe knuckle pads; additional features present in only some patients were: palmoplantar keratoderma, nail dystrophy, and hyperpigmentation. Molecular studies showed a recurrent splice site mutation in SMARCAD1 predicted to result in haploinsufficiency.
Chang et al. (2017) described multiple individuals with SMARCAD1 mutations from two unrelated families with absent dermatoglyphics and associated features including transient facial milia, skin fragility, partial flexion contractures of the fingers and toes, finger clinodactyly, toe syndsctyly and blistering on palms and soles at birth.

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* This information is courtesy of the L M D.

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What gene changes cause Basan syndrome?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 129200 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
SMARCAD1 - 4q22.3

What are the main symptoms of Basan syndrome?

The typical symptoms of the syndrome are:
Autosomal dominant inheritance, Single transverse palmar crease, Thin skin, Skin rash, Adermatoglyphia, Amniotic constriction ring, Hypohidrosis, Milia, Tapered finger, Abnormal dermatoglyphics, Thickened skin, Ectodermal dysplasia, Cutaneous syndactyly of toes, Flexion contracture, Camptodactyly of finger

How does someone get tested for Basan syndrome?

The initial testing for Basan syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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