Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome

被引：1

作者：

Plana-Pla, Adria ^{[1
,2
]}

Condal, Laura ^{[1
,2
]}

Jaka, Ane ^{[1
,2
]}

Blanco, Ignacio ^{[3
,4
]}

Castellanos, Elisabeth ^{[4
,5
]}

Bielsa, Isabel ^{[1
,2
]}

机构：

[1] Hosp Univ Germans Trias & Pujol HUGTiP, Dermatol Dept, Barcelona, Spain

[2] Univ Autonoma Barcelona, Dept Med, Carretera Canyet S-N, Barcelona 08916, Spain

[3] Germans Trias & Pujol Univ Hosp HUGTiP, Clin Genet Serv, Clin Genet & Genet Counseling Unit, Northern Metropolitan Clin Lab, Barcelona, Spain

[4] Germans Trias & Pujol Res Inst IGTP PMPPC, Clin Genom Res Unit, Barcelona, Spain

[5] Germans Trias & Pujol Univ Hosp HUGTiP, Clin Genet Serv, Clin Genom Unit, Northern Metropolitan Clin Lab, Barcelona, Spain

来源：

PEDIATRIC DERMATOLOGY | 2023年 / 40卷 / 01期

关键词：

Cowden syndrome; epidermal nevus; lipoma; macrocephaly; mosaicism type 2; PTEN; GERMLINE;

D O I：

10.1111/pde.15116

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Linear Cowden nevus, also known as linear PTEN nevus, is a type of epidermal nevus, first described in 2007, which is seen in patients with PTEN hamartoma tumor syndrome. It is considered to be a type 2 form of segmental mosaicism, and we suggest that it has certain clinical features that distinguish it from epidermal nevi seen in similar conditions, such as Proteus syndrome. We present a case of linear Cowden nevus in a 4-year-old boy and review the literature.

引用

页码：179 / 181

页数：3

共 10 条

[1] A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape [J].

Castellanos, Elisabeth ;

Gel, Bernat ;

Rosas, Inma ;

Tornero, Eva ;

Santin, Sheila ;

Pluvinet, Raquel ;

Velasco, Juan ;

Sumoy, Lauro ;

del Valle, Jesus ;

Perucho, Manuel ;

Blanco, Ignacio ;

Navarro, Matilde ;

Brunet, Joan ;

Pineda, Marta ;

Feliubadalo, Lidia ;

Capella, Gabi ;

Lazaro, Conxi ;

Serra, Eduard .

SCIENTIFIC REPORTS, 2017, 7

[2] Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity [J].

Caux, Frederic ;

Plauchu, Henri ;

Chibon, Frederic ;

Faivre, Laurence ;

Fain, Olivier ;

Vabres, Pierre ;

Bonnet, Francoise ;

Ben Selma, Zied ;

Laroche, Liliane ;

Gerard, Marion ;

Longy, Michel .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (07) :767-773

[3] Linear Cowden nevus: a new distinct epidermal nevus [J].

Happle, Rudolf .

EUROPEAN JOURNAL OF DERMATOLOGY, 2007, 17 (02) :133-136

[4] A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome [J].

Lindhurst, Marjorie J. ;

Sapp, Julie C. ;

Teer, Jamie K. ;

Johnston, Jennifer J. ;

Finn, Erin M. ;

Peters, Kathryn ;

Turner, Joyce ;

Cannons, Jennifer L. ;

Bick, David ;

Blakemore, Laurel ;

Blumhorst, Catherine ;

Brockmann, Knut ;

Calder, Peter ;

Cherman, Natasha ;

Deardorff, Matthew A. ;

Everman, David B. ;

Golas, Gretchen ;

Greenstein, Robert M. ;

Kato, B. Maya ;

Keppler-Noreuil, Kim M. ;

Kuznetsov, Sergei A. ;

Miyamoto, Richard T. ;

Newman, Kurt ;

Ng, David ;

O'Brien, Kevin ;

Rothenberg, Steven ;

Schwartzentruber, Douglas J. ;

Singhal, Virender ;

Tirabosco, Roberto ;

Upton, Joseph ;

Wientroub, Shlomo ;

Zackai, Elaine H. ;

Hoag, Kimberly ;

Whitewood-Neal, Tracey ;

Robey, Pamela G. ;

Schwartzberg, Pamela L. ;

Darling, Thomas N. ;

Tosi, Laura L. ;

Mullikin, James C. ;

Biesecker, Leslie G. .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (07) :611-619

[5] Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation [J].

Loffeld, A. ;

McLellan, N. J. ;

Cole, T. ;

Payne, S. J. ;

Fricker, D. ;

Moss, C. .

BRITISH JOURNAL OF DERMATOLOGY, 2006, 154 (06) :1194-1198

[6] PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature [J].

Macken, William L. ;

Tischkowitz, Marc ;

Lachlan, Katherine L. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019, 181 (04) :591-610

[7] Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria [J].

Pilarski, Robert ;

Burt, Randall ;

Kohlman, Wendy ;

Pho, Lana ;

Shannon, Kristen M. ;

Swisher, Elizabeth .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2013, 105 (21) :1607-1616

[8] A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus [J].

Tekin, M ;

Hismi, BO ;

Fitoz, S ;

Yalcinkaya, F ;

Ekim, M ;

Kansu, A ;

Ertem, M ;

Deda, G ;

Tutar, E ;

Arsan, S ;

Zhou, XP ;

Pilarski, R ;

Eng, C ;

Akar, N .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (13) :1472-1475

[9] Topical sirolimus therapy for nevus sebaceus and epidermal nevus: A case series [J].

Zhou, Amanda G. ;

Antaya, Richard J. .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2022, 87 (02) :407-409

[10] Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis [J].

Zhou, XP ;

Marsh, DJ ;

Hampel, H ;

Mulliken, JB ;

Gimm, O ;

Eng, C .

HUMAN MOLECULAR GENETICS, 2000, 9 (05) :765-768

← 1 →