Bloch sulzberger syndrome
Bloch sulzberger syndrome also known as Incontinentia pigmenti (IP)is a rare disorder of x-linked dominant single gene. It affects skin, eye, teeth, central nervous system and hair.
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Aetiology
Bloch sulzberger syndrome results from mutation of gene inhibitor of the kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG). This gene is located on x chromosome at q28 position.
IKBKGis also known as Inhibitor of nuclear factor Kappa-B Kinase, subunit gamma (IKK-?)and Nuclear Factor ?? Essential Modulator (NEMO). This gene is also involved in immune response to infection and inflammation. In male patients, Mutation of NEMO is known to be lethal embryonic. However, female patient survives as result of lyonization phenomenon (or X chromosome inactivation).
Pathological features
Stage one: Vesicular
This stage may occur within 2 weeks or at birth. Erythematous Blister- like lesion develops in a group form affecting the scalp and other part of the body.
Stage 2: Verrucous
This stage occurs around 2-4 weeks post birth. During this stage wart like rashes develops on the healing blisters This may last for few months and last longer in some cases.
Stage 3: hyperpigmented
This stage occurs around 12-14 weeks post birth. During this stage 98% of the patient experience discolouration of the patches range of grey-blue- brown colour. Melanophages develops in dermis.
Stage 4: Arophic
This stage continues form late stage of infancy to adolescence and some cases in adulthood. Scar- like lesions with pale, patches are developed mostly arounds calves and other parts. Also, during this stage epidermis thins and these changes can be permanent specially in adult patients.
Diagnosis
Bloch sulzberger syndrome is mostly diagnosed by skin biopsy and also by neurological examination.
Management
There is no cure and therapy available to treat and reduce the symptoms of the condition.
Epidemiology
Worldwide 800 cases have been reported up-to-date
Affected male fetuses usually do not survive, and therefore the great majority (97%) of living affected individuals are female.
Less than 3% of male are affected.
Occurs in all the races. However, most cases have been described in white.
Incidence
1 per 40,000
Ocular disorders
speckled diffuse hypopigmentation in the retina, microphthalmia, lenticular haemorrhage, retrolental fibroplasia, cataract, atrophy of the optical nerve, and reticular split-off
