Definition

What is Bloch-Sulzberger syndrome?

Bloch-Sulzberger syndrome is a genetic disorder that affects the skin, hair, teeth and the central nervous system. It is an x-linked dominant genetic disorder due to mutation of IKBKG gene (formerly known as NEMO).

Bloch-Sulzberger syndrome was first described by Garrod in 1906, and was later further defined by Bloch and Sulzberger in 1926 and 1928 respectively.

Bloch-Sulzberger syndrome is characterized by blisters on the trunk and limbs that develop soon after birth. The blisters heal gradually, but leave behind areas of hyperpigmentation over the skin. It is popularly known as Incontinentia Pigmenti due to the characteristic appearance of skin when observed through a microscope. Bloch-Sulzberger syndrome is also known by other terminologies such as:

  • Bloch-Siemens incontinentia pigmenti melanoblastosis cutis linearis.
  • Pigmented dermatosis, Siemens-Bloch type.

Bloch-Sulzberger syndrome is often associated with other conditions such as DIRA (Interleukin 1 receptor antagonist deficiency); Incontinentia Pigmenti achromians; Franceschetti-Jadassohn syndrome; Caffey disease etc.

How common is Bloch-Sulzberger syndrome?

Bloch-Sulzberger syndrome is a rare disease and only about 700 cases have been reported worldwide up until 1987. It has a worldwide distribution and more cases have been reported among the whites than in blacks or Asians. Bloch-Sulzberger syndrome being an X-linked dominant syndrome, it is more common in females. It occurs very rarely in males in association with other genetic conditions such as Klinefelter syndrome (XXY syndrome), somatic mosaicism or hypomorphic mutation in NEMO gene. The female:male ratio is 20:1. The birth prevalence is at 0.65/1000000 population as per the public health birth defect surveillance system. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Bloch-Sulzberger syndrome?

The common symptoms of Bloch-Sulzberger syndrome are:

  • Skin Issues in Bloch-Sulzberger Syndrome: The skin symptoms are the most common characteristics of Bloch-Sulzberger syndrome. These symptoms appear as lesions in linear pattern on the arms and legs and in a swirled pattern over the trunk. The skin symptoms usually proceed in the following stages:
    • Stage 1 Skin Symptoms of Bloch-Sulzberger Syndrome: This is characterized by redness, inflammation, blisters and boils over the extremities or the scalp that may last for a few weeks, a few months or a year intermittently.
    • Stage 2 Skin Symptoms of Bloch-Sulzberger Syndrome: In this stage, the blisters develop into a raised wart-like lesion with thick crusts and scabs. There are increased areas of darkened skin or hyperpigmentation.
    • Stage 3 Skin Symptoms of Bloch-Sulzberger Syndrome: This appears between the ages of 6 to 12 months. There is further increase in hyperpigmentation. There may be an area of darkened skin on the trunk giving the appearance of “marble cake.”
    • Stage 4 Skin Symptoms of Bloch-Sulzberger Syndrome: This is a stage that is also known as the atrophic stage. The scar starts to fade away. During adolescence the faded scars appears as pale and hairless patches or streaks. As the individuals reaches adulthood, the scars and areas of hyperpigmentation fades away.
  • Dental Problems in Bloch-Sulzberger Syndrome: The most commonly encountered dental issues include delay in eruption of primary teeth, peg-shaped or cone-shaped anterior teeth, absence of teeth (anodontia) or appearance of small sized teeth (microdontia).
  • Hair Loss as a Symptom of Bloch-Sulzberger Syndrome: Patients affected by Bloch-Sulzberger syndrome may have bald patches and alopecia. The hair generally appears wiry, coarse with lack of lustre.
  • Eyes Problems in Bloch-Sulzberger Syndrome: Children with Bloch-Sulzberger syndrome may be born with a small abnormal eye. There may be retinal abnormalities, which if left untreated can lead to serious complications.
  • Neurological Issues in Bloch-Sulzberger Syndrome: Neurological involvement in Bloch-Sulzberger syndrome is rare. However, in few cases there may be congenital or neonatal stroke as a result of Bloch-Sulzberger syndrome. Some patients may also experience electrical disturbances in the brain, seizures, muscle weakness, learning difficulties etc.
  • Other Abnormalities in Bloch-Sulzberger Syndrome: Females affected by Bloch-Sulzberger syndrome may be born with physical abnormalities such as extra nipples or complete absence of breasts.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Bloch-Sulzberger syndrome?

Bloch-Sulzberger syndrome is a type of ectodermal dysplasia with abnormalities in the tissues and organs derived from neuro-ectoderm and ectoderm. It is a genetic disorder caused by x-linked dominant genodermatosis. It is caused by mutation of the IKBKG gene or the NEMO gene, which is responsible for production of a specific protein that helps is providing protection to cells and prevents self-destruction. This condition presents itself with neurologic and ophthalmological anomalies in addition to involvement of hair, teeth, nails and skin. It has been noted that in females affected by this disorder, there is lyonization which leads to functional mosaicism of X-linked genes which presents itself as blaschkoid distribution of cutaneous lesions. Females with Bloch-Sulzberger syndrome have extreme skewed X-inactivation pattern as the cells that express the mutated X chromosomes selectively eliminate during the birth time. The affected skin has abnormal chromosomes and the unaffected skin has normal chromosomes.

Risk factors

What increases my risk for Bloch-Sulzberger syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Bloch-Sulzberger syndrome diagnosed?

In addition to clinical examination and detailed case history, the diagnosis of Bloch-Sulzberger syndrome involves molecular genetic testing to confirm mutation of IKBKG gene. A skin biopsy is usually helpful in borderline cases or in cases of unclear findings in gene testing. Regular eye examination by a paediatric ophthalmologist is recommended in children suspected to be affected by Bloch-Sulzberger syndrome. Physical examination is predominantly emphasized on skin, hair, nails and neurological examination. Electroencephalography (EEG), magnetic resonance imaging (MRI) and magnetic resonance angiography may be considered based on the extent of the disease. It is advised to the mother to consult a geneticist and a dermatologist for an in depth evaluation, after a child is born with Bloch-Sulzberger syndrome.

How is Bloch-Sulzberger syndrome treated?

The treatment modality for Bloch-Sulzberger syndrome is planned based on the symptoms elicited by the patient. Treatment for Bloch-Sulzberger syndrome is usually symptomatic and supportive. The skin abnormalities in Bloch-Sulzberger syndrome patients usually resolve by itself and do not require any treatment. In cases of retinal detachment predisposed by neovascularization, cryotherapy and laser photocoagulation may be done. Dental issues are treated by a dentist; this may require fabrication of implants based on the oral condition. Consultation with speech pathologist and paediatric nutritionist may be required if the patient suffers from speech and chewing difficulties. Hair issues may require dermatological treatment. Oral medications are often recommended for management of neurological conditions such as seizures, mild paralysis and muscle spasms. It is advised to the patient and his family to get a genetic counseling done.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Bloch-Sulzberger syndrome?

The following tips might help you deal with Bloch-Sulzberger syndrome:

  • Precautionary steps: Theseinclude genetic counseling prior to planning pregnancy particularly in presence of family history of genetic abnormalities.
  • Eye examination: This should be done on a regular basis in patients affected by this condition to prevent complications in the eyes.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 25, 2018 | Last Modified: January 25, 2018

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