TLDR A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
The document reported a case of a 15-year-old woman with keratitis-ichthyosis-deafness (KID) syndrome who developed widespread porokeratotic eccrine and hair follicle nevus (PEHFN). PEHFN is a rare hamartomatous malformation characterized by cornoid lamellae overlying dilated eccrine ostia and involves hair follicle infundibula. This condition typically presents as multiple filiform keratotic spines in a linear arrangement, often on the distal extremities. The case highlighted the association between PEHFN and KID syndrome, suggesting a potential link between these rare conditions.
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August 2009 in “Journal of the American Academy of Dermatology” The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
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January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
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September 2014 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Laser treatments are the most effective for porokeratotic adnexal ostial nevus.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
