Incontinentia pigmenti is rare X-linked dominant disorder. There is no consistent expression of Incontinetia pigmenti in female child, but in male child, they always lead to death in utero. Vesicular, verrucous, hyperpigmented, and atrophic stages are the four stages of Incontinetia Pigmenti and it is uncommon for all stages to be seen in a same case. It is a rare genodermatosis, with only very few cases of male child with Incontinentia pigmenti have been reported. Thus, we report this case due to its extreme rarity and the child showed all the first 3 stages on followup.
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http://dx.doi.org/10.7860/JCDR/2015/12171.5561 | DOI Listing |
J Clin Med
January 2025
Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
: The nuclear factor (NF)-kB essential modulator (NEMO) has a crucial role in the NFκB pathway. Hypomorphic pathogenic variants cause ectodermal dysplasia with immunodeficiency (EDA-ID) in affected males. However, heterozygous amorphic variants could be responsible for Incontinentia Pigmenti (IP) in female carriers.
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Department of Dermatology and Venereology, Pondicherry Institute of Medical Sciences, Puducherry, India.
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Department of Dermatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, 8200, Denmark.
Br J Dermatol
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Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada.
JAMA Ophthalmol
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Emergency Medicine/Toxicology, Boston Children's Hospital, Boston, Massachusetts.
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