A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia

May 2020 in “ The journal of investigative dermatology/Journal of investigative dermatology ”

Sabine Duchatelet, Claudia Russo, Christian Osterburg, S. Mallet, Christine Bôle‐Feysot, Patrick Nitschké, M.‐A. Richard, Volker Dötsch, Caterina Missero, Aude Nassif, Alain Hovnanian

TP63 mutation alopecia ectodermal dysplasia onychodystrophia ichthyosis hypohidrosis DNA-binding domain protein instability transactivation activity hair loss nail dystrophy dry skin reduced sweating

Studysummary This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.

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Research cited in this study

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research Mutations In AEC Syndrome Skin Reveal A Role For p63 In Basement Membrane Adhesion, Skin Barrier Integrity And Hair Follicle Biology

33 citations , February 2012 in “British Journal of Dermatology”

This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.

research Expression of Beta-Catenin, p63, and CD34 in Hair Follicles During the Course of Androgenetic Alopecia

4 citations , August 2005 in “Archives of Dermatological Research”

This study detected higher expression of p63 in occipital scalp areas compared to frontal areas, with minimal changes in beta-catenin expression and a novel finding of CD34 positive cells in hair follicles' outer root sheath.