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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290178PMC
http://dx.doi.org/10.4103/2229-5178.146193DOI Listing

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Article Synopsis
  • Autosomal dominant skin disorders can exhibit pronounced mosaic involvement in neonates, stemming from early loss of heterozygosity in the embryo shortly after fertilization.
  • Some syndromes, like Brooke-Spiegler and Hornstein-Knickenberg, show early-onset symptoms that can foreshadow later, more widespread manifestations of the disorder.
  • Conditions like glomangiomatosis and Darier disease demonstrate that neonatal mosaic lesions can be early indicators of nonsegmental skin issues emerging much later in life.
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Porokeratosis: a differential diagnosis to consider in benign lichenoid keratosis.

Int J Clin Exp Pathol

February 2022

Dermatology Division, Department of Anatomical Pathology, Pathlab 829 Cameron Road, Tauranga 3112, New Zealand.

Porokeratosis is a disorder of keratinization with many clinical variants. The histological hallmark feature of porokeratosis is a cornoid lamella. Other accompanying features include lichenoid inflammation, atrophy towards the centre of the lesion, dermal cytoid bodies, and adjacent lichenoid changes.

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Porokeratosis: An enigma beginning to unravel.

Indian J Dermatol Venereol Leprol

May 2022

Talwar Skin Centre, Lucknow, Uttar Pradesh, India.

Porokeratosis is a keratinization disorder with unclear etiopathogenesis, varied clinical presentation and characteristic histopathology, and is usually unresponsive to current therapeutic options. Until now, it was considered to be a clonal disorder with immunity, ultra violet radiation and other factors playing important roles in etiopathogenesis. It is now known that abnormalities in the mevalonate pathway are responsible for this clonal keratinization abnormality.

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