Cerebral cavernous malformations associated with cutaneous angiokeratomas and hemangiomas

Walter R. Whitworth; Ryan W. Hick; Kelly C. Nelson; Navjeet K. Sidhu-Malik

Cerebral cavernous malformations associated with cutaneous angiokeratomas and hemangiomas

Walter R. Whitworth, Ryan W. Hick, Kelly C. Nelson, Navjeet K. Sidhu-Malik

Dermatology

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

2 Scopus citations

Abstract

We report the case of a 66-year-old man with adult-onset seizures and multiple cerebral cavernous malformations who developed numerous eruptive cutaneous angiokeratomas on the legs, scrotum, abdomen, and back as well as lobular and cavernous hemangiomas on the arms. Genetic analysis demonstrated a mutation in the KRIT1, ankyrin repeat containing gene (also known as CCM1).

Original language	English (US)
Pages (from-to)	329-332
Number of pages	4
Journal	Cutis
Volume	96
Issue number	5
State	Published - 2015

ASJC Scopus subject areas

Dermatology

Cite this

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title = "Cerebral cavernous malformations associated with cutaneous angiokeratomas and hemangiomas",

abstract = "We report the case of a 66-year-old man with adult-onset seizures and multiple cerebral cavernous malformations who developed numerous eruptive cutaneous angiokeratomas on the legs, scrotum, abdomen, and back as well as lobular and cavernous hemangiomas on the arms. Genetic analysis demonstrated a mutation in the KRIT1, ankyrin repeat containing gene (also known as CCM1).",

author = "Whitworth, {Walter R.} and Hick, {Ryan W.} and Nelson, {Kelly C.} and Sidhu-Malik, {Navjeet K.}",

year = "2015",

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T1 - Cerebral cavernous malformations associated with cutaneous angiokeratomas and hemangiomas

AU - Whitworth, Walter R.

AU - Hick, Ryan W.

AU - Nelson, Kelly C.

AU - Sidhu-Malik, Navjeet K.

PY - 2015

Y1 - 2015

N2 - We report the case of a 66-year-old man with adult-onset seizures and multiple cerebral cavernous malformations who developed numerous eruptive cutaneous angiokeratomas on the legs, scrotum, abdomen, and back as well as lobular and cavernous hemangiomas on the arms. Genetic analysis demonstrated a mutation in the KRIT1, ankyrin repeat containing gene (also known as CCM1).

AB - We report the case of a 66-year-old man with adult-onset seizures and multiple cerebral cavernous malformations who developed numerous eruptive cutaneous angiokeratomas on the legs, scrotum, abdomen, and back as well as lobular and cavernous hemangiomas on the arms. Genetic analysis demonstrated a mutation in the KRIT1, ankyrin repeat containing gene (also known as CCM1).

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AN - SCOPUS:85011298825

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JO - Cutis

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Cerebral cavernous malformations associated with cutaneous angiokeratomas and hemangiomas

Abstract

ASJC Scopus subject areas

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