Patched mutations and hairy skin patches: a new sign in Gorlin syndrome

Louise C. Wilson; Ekundayo Ajayi-Obe; Birgitta Bernhard; Saskia M. Maas

doi:https://doi.org/10.1002/ajmg.a.31374

Patched mutations and hairy skin patches: a new sign in Gorlin syndrome

Louise C. Wilson, Ekundayo Ajayi-Obe, Birgitta Bernhard, Saskia M. Maas

Research output: Contribution to journal › Article › Academic › peer-review

25 Citations (Scopus)

Abstract

We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (PTCH) gene. The PTCH protein is a negative regulator of Hedgehog signaling, and the Sonic Hedgehog (SHH)-PTCH pathway is known to play an important role in the formation and cycling of the hair follicle. We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise

Original language	English
Pages (from-to)	2625-2630
Journal	American journal of medical genetics. Part A
Volume	140A
Issue number	23
DOIs	https://doi.org/10.1002/ajmg.a.31374
Publication status	Published - 2006

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https://doi.org/10.1002/ajmg.a.31374

Cite this

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title = "Patched mutations and hairy skin patches: a new sign in Gorlin syndrome",

abstract = "We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (PTCH) gene. The PTCH protein is a negative regulator of Hedgehog signaling, and the Sonic Hedgehog (SHH)-PTCH pathway is known to play an important role in the formation and cycling of the hair follicle. We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise",

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AU - Ajayi-Obe, Ekundayo

AU - Bernhard, Birgitta

AU - Maas, Saskia M.

PY - 2006

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AB - We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (PTCH) gene. The PTCH protein is a negative regulator of Hedgehog signaling, and the Sonic Hedgehog (SHH)-PTCH pathway is known to play an important role in the formation and cycling of the hair follicle. We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise

U2 - https://doi.org/10.1002/ajmg.a.31374

DO - https://doi.org/10.1002/ajmg.a.31374

M3 - Article

C2 - 16906569

SN - 1552-4825

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JO - American journal of medical genetics. Part A

JF - American journal of medical genetics. Part A

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