Rare cutaneous association of tuberous sclerosis

被引：0

作者：

Mustari, Akash P. ^{[1
]}

Kittu, Malhi ^{[1
]}

Reddy, Pratheeksha ^{[1
]}

Bhandari, Adhyatm ^{[1
]}

Parkhi, Mayur ^{[2
]}

Chatterjee, Debajyoti ^{[2
]}

Mahajan, Rahul ^{[1
]}

机构：

[1] Post Grad Inst Med Educ & Res, Dept Dermatol Venereol & Leprol, Chandigarh, India

[2] Post Grad Inst Med Educ & Res, Dept Histopathol, Chandigarh, India

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2023年 / 48卷 / 01期

关键词：

COMPLEX;

D O I：

10.1093/ced/llac018

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Tuberous sclerosis (TS) is an autosomal dominant (AD) hereditary disorder due to mutations in the genes TSC1 or TSC2, which encode hamartin and tuberin, respectively.1 Around 60–70% of TS cases are due to novel mutations.2 Cutaneous manifestations include facial angiofibroma or fibrous cephalic plaque, shagreen patch, ash-leaf macules, confetti-like macules, and ungual and intraoral fibromas.3 We report a unique association of TS with piebaldism and capillary malformation in a 17-year-old patient, and a calcified epidermoid cyst mimicking plexiform neurofibroma in 9-year-old boy with TS. © 2023 Oxford University Press. All rights reserved.

引用

页码：64 / 66

页数：3

共 10 条

[1] Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex
Chu-Shore, Catherine J.
Major, Philippe
Montenegro, Maria
Thiele, Elizabeth
[J]. NEUROLOGY, 2009, 72 (13) : 1165 - 1169
[2] History of the tuberous sclerosis complex
Gomez, MR
[J]. BRAIN & DEVELOPMENT, 1995, 17 : 55 - 57
[3] Irvine AD., 2016, ROOKS TXB DERMATOLOG, V80, P10
[4] Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth
Jenkins, David
McCuaig, Catherine
Drolet, Beth A.
Siegel, Dawn
Adams, Susan
Lawson, John A.
Wargon, Orli
[J]. PEDIATRIC DERMATOLOGY, 2016, 33 (05) : 536 - 542
[5] DEPIGMENTED HAIR - EARLIEST SIGN OF TUBEROUS SCLEROSIS
MCWILLIAM, RC
STEPHENSON, JBP
[J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1978, 53 (12) : 961 - 963
[6] Cerebriform Tongue
Rajeev, Vini
Basheer, Sulphi Abdul
Elnager, Mutassim
Karthik, A. Kaneesh
Radhakrishnan, A. Senthilnathan
[J]. JOURNAL OF PHARMACY AND BIOALLIED SCIENCES, 2021, 13 (05): : 868 - 870
[7] PICTURE OF THE MONTH
SIMON, NP
SIMON, MW
TUNNESSEN, WW
[J]. ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE, 1995, 149 (09): : 1031 - 1032
[8] Tuberous sclerosis complex gene products, tuberin and hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb
Tee, AR
Manning, BD
Roux, PP
Cantley, LC
Blenis, J
[J]. CURRENT BIOLOGY, 2003, 13 (15) : 1259 - 1268
[9] Tuberous sclerosis: a review of the past, present, and future
Uysal, Sanem Pinar
Sahin, Mustafa
[J]. TURKISH JOURNAL OF MEDICAL SCIENCES, 2020, 50 : 1665 - 1676
[10] Angiofibromas with multiple epidermoid cysts in tuberous sclerosis: new mutation or post-traumatic?
Zheng, Li-qiang
Huang, Yong
Han, Xiang-chun
[J]. JOURNAL OF CUTANEOUS PATHOLOGY, 2013, 40 (05) : 509 - 512

← 1 →