In North America and globally, 1 out of 10 people suffer from orphan/rare diseases. Among these patients which are mostly children, 30% of the children die within the first decade. According to National Organization for Rare Disease database (NORD), there are around approximately 7000 rare diseases (https://rarediseases.org). This view point would definitely shed light into the importance of me...

Incontinentia pigmenti (IP) is a rare genetic multisystem disorder that may affect many organs including the skin, bone, eyes and the central nervous system. Central nervous system manifestations are seen in 30% of cases with seizures and mental retardation. Seizures occurring as the presenting sign of IP are rarely reported. We report a case of a female newborn with IP who had seizures on day ...

Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and s...

Incontinentia pigmenti (IP) is a X-linked dominant neuro cutaneous syndrome with cutaneous, neurologic, ophthalmologic and dental manifestations mainly in female neonates. Starting from neonatal period, IP passes through stages of vesicular (90%), verrucous (70%), hyper pigmented (98%) and hypopigmented lesions. Authors report a case of IP in 8 months old female child who presented with vesicul...

The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. ...