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PLACK syndrome

Hyperkeratotic papules on the extensor aspect of the knee in PLACK syndrome (courtesy of Dr AS Vidya, Kerala, India) (PLKS-patient 1)

Keywords: 11 years, Indian ethnicity, Autosomal recessive, Child, Genetic and congenital, Knee, Leg, Male, Multiple hyperkeratotic papules, Peeling skin syndrome, Skin of colour, Xerosis

What is PLACK syndrome?

PLACK syndrome, a form of generalised peeling skin syndrome (PSS), refers to an extremely rare autosomal recessive genodermatosis that is associated with the loss of function mutations in the CAST gene which encodes calpastatin. PSS was previously considered a subtype of epidermolysis bullosa simplex, however it is now classified as a separate disorder of skin fragility.

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https://dx.doi.org/10.25259/IJDVL_1138_2021