Bloch-Sulzberger Syndrome – Causes, Symptoms, Prevention and Treatment

Bloch-Sulzberger syndrome is basically a genetic disorder, which majorly affects skin, hair, teeth and central nervous system of a person. Bloch-Sulzberger syndrome is an X-linked genetic disorder. Mutation in IKBKG gene (or NEMO) results in Bloch-Sulzberger syndrome. Garrod was the first person, who described Bloch-Sulzberger syndrome in 1906. Bloch and Sulzberger later defined this in 1926 and 1928, respectively. The characteristic feature of Bloch-Sulzberger syndrome is blisters on the trunk and limbs just after the birth. Blisters heal after some time but leave dark marks on the skin, called hyperpigmentation.

Incontinentia pigmenti is another name of Bloch-Sulzberger syndrome. It is named so, because of skin appearance, which is a characteristic feature of this syndrome.

Symptoms of Bloch-Sulzberger Syndrome:

There are some characteristic symptoms of Bloch-Sulzberger syndrome that are described below:

• Skin-Related Symptoms: In Bloch-Sulzberger syndrome, a person has lesion in linear pattern on the arms and legs, while a swirly pattern can be seen on the trunk. The symptoms of Bloch-Sulzberger on the skin depends on the stage of the disease. For instance, in Stage 1, there is redness, blisters, boils and inflammation on the skin. Likewise, in Stage 2, blisters turn into wart-like lesions, thick crust and scabs. Hyperpigmentation and skin darkness increases in Stages 2 and 3. Finally, in Stage 4, the pigmentation and scars fade away.

• Hair-Related Symptoms: People suffering from Bloch-Sulzberger syndrome have bald patches and alopecia. Besides, some people with the syndrome may have hair, which are rough with no shine.

• Dental Symptoms: The patient may have troubled removal of primary teeth, with peg- or cone-shaped anterior teeth. Besides, some have an issue like absence of teeth or small size of teeth.

• Neurological Symptoms: Bloch-Sulzberger syndrome has rare neurological symptoms. Still, there are some cases in which a person experiences congenital or neonatal stroke. Bloch-Sulzberger syndrome in some patients results in electrical disturbances in brain, seizures and weak muscles.

• Eye-Related Symptoms: Bloch-Sulzberger syndrome may affect the retina resulting in retinal abnormalities. Even some children are born with small abnormal eyes.

Risk Factors for Bloch-Sulzberger Syndrome:

Since Bloch-Sulzberger syndrome is a genetic disorder, there is only gene-related risk factor associated with it. If there is a family history of the syndrome, then the child may have risk of developing it.

Do I have Bloch-Sulzberger Syndrome?

When you have symptoms like skin redness, blisters, dental problems, hair loss, small abnormal eye and neurological issues, then chances are there that you might have Bloch-Sulzberger syndrome. However, there are some other disorders that share similar symptoms.

For instance, Werner syndrome has symptoms like changes in skin conditions, eye-related problems, changes in facial features and so on. Likewise, symptoms of hypohidrotic ectodermal dysplasia include changes in skin, hair loss and dental problems that too are common symptoms of Bloch-Sulzberger Syndrome.

Possibly, these symptoms can be confused with the symptoms of Bloch-Sulzberger syndrome. Thus, it is recommended to have a proper diagnosis of the condition to avoid further deterioration of the condition.

Causes and Prevention of Bloch-Sulzberger Syndrome:

 1. Causes of Bloch-Sulzberger Syndrome:

Bloch-Sulzberger syndrome is an X-linked genetic disorder, caused by the genodermatosis. This is a type of ectodermal dysplasia leading to abnormalities in different organs and tissues. This genetic disorder is caused by the mutation in IKBKG gene. IKBKG gene produces a protein that helps prevent self-destruction of cells. This is associated with changes in neurological and ophthalmological conditions along with the effect on the skin, hair, teeth, etc.

 2. Prevention of Bloch-Sulzberger Syndrome:

Since Bloch-Sulzberger syndrome is a genetic disorder, a patient can take some preventive steps to avoid the condition in the next generation. The best preventive measure is genetic counseling of a couple before family planning, especially those, who have a family history of this genetic condition.

Diagnosis and Tests of Bloch-Sulzberger Syndrome:

Clinical analysis, as well as, molecular genetic testing, are diagnostic methods to detect Bloch-Sulzberger syndrome. To confirm the presence of IKBKG gene, experts advise molecular genetic tests. Skin biopsy is the approach used for molecular testing in severe cases. Ophthalmologists examine the eyes, while physical examination is recommended for other organs. In severe conditions or when there are complications, techniques like electroencephalography (EEG), magnetic resonance imaging (MRI) and magnetic resonance angiography are employed.

Treatment and Care of Bloch-Sulzberger Syndrome:

The treatment of Bloch-Sulzberger syndrome depends on the type of symptoms observed in a patient. No treatment is available for skin lesions and blisters, and with the passage of time, these symptoms get better. Treatment approaches for patients with retinal issues are cryotherapy, neovascularization and laser photocoagulation. Dental treatment may involve fabrication of implants, but this also largely depends on the condition of the patient. Treatment of neurological issues can be done through oral medication.

OTC Medications and Self-Management Methods for Bloch-Sulzberger Syndrome:

Bloch-Sulzberger syndrome is a genetic disorder and it is risky to take any over-the-counter medicine for the treatment. This is because consuming drug without consulting an expert may aggravate the health condition and its associated symptoms.
Adhering to the treatment specific to various conditions of the syndrome and taking measures to reduce the symptoms and their severity at an individual level can help a person to effectively manage Bloch-Sulzberger Syndrome.

Health Tip by Expert:

Genetic counseling is recommended to the couple planning to have kids, who have a family history of this syndrome.