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Efficient Derivation of Retinal Pigment Epithelium Cells from Stem Cells

Efficient Derivation of Retinal Pigment Epithelium Cells from Stem Cells

Published on: March 8, 2015

Incontinentia pigmenti.

G B S¹, G S Pai, A H Pai

¹Department of Dermatology, K.S.Hegde Medical Academy, Deralakatte, Mangalore, India.

Kathmandu University Medical Journal (KUMJ)

|June 19, 2013

Summary

This summary is machine-generated.

Incontinentia pigmenti is an X-linked dominant disorder causing skin lesions and developmental issues. This case highlights typical symptoms in an infant, including skin eruptions and eye abnormalities.

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Area of Science:

Genetics
Dermatology
Ophthalmology

Background:

Incontinentia pigmenti (IP) is a rare X-linked dominant disorder.
It affects the skin, eyes, central nervous system, and skeletal system.
IP is characterized by specific cutaneous manifestations following Blaschko's lines.

Observation:

A 30-day-old female infant presented with congenital skin eruptions.
Lesions included linear verrucous plaques and vesicles on limbs and trunk.
Macular hyperpigmentation in linear and whorled patterns was observed.

Findings:

The infant's presentation was consistent with Incontinentia pigmenti.
Ophthalmological examination revealed proliferative retinopathy in the right eye.
The distribution of skin lesions followed Blaschko's lines.

Implications:

Early diagnosis of Incontinentia pigmenti is crucial for managing associated complications.
Ophthalmological screening is essential due to the risk of vision impairment.
Understanding the genetic basis aids in genetic counseling and family planning.