Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role

MA Cardis, CMC DeKlotz - Archives of disease in childhood, 2017 - adc.bmj.com
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from
unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in …

Finding a cure for tuberous sclerosis complex: From genetics through to targeted drug therapies

LJ McEneaney, AR Tee - Advances in genetics, 2019 - Elsevier
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic condition caused
by a mutation in either the TSC1 or TSC2 gene. Phenotypically, this leads to aberrant cell …

[HTML][HTML] Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients

M Wataya-Kaneda, M Tanaka, T Hamasaki… - PloS one, 2013 - journals.plos.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with multi-system
involvement and variable manifestations. There has been significant progress in TSC …

Subungual tumors: an algorithmic approach

KM Hinchcliff, C Pereira - The Journal of Hand Surgery, 2019 - Elsevier
The presentation of benign and malignant subungual tumors often follows a final common
pathway of nonspecific nail deformity; as such, delays in diagnosis are common. Therefore …

Neuro-ophthalmic manifestations of the phakomatoses

KAA Douglas, VP Douglas… - Current Opinion in …, 2019 - journals.lww.com
Phakomatoses, also known as neuro-oculo-cutaneous syndromes, are inherited disorders
with characteristic lesions in multiple organs. Because of their frequent ocular involvement …

Koenen tumors in tuberous sclerosis: a review and clinical considerations for treatment

JJ Liebman, LC Nigro, MS Matthews - Annals of Plastic Surgery, 2014 - journals.lww.com
Koenen tumors, or periungual and subungual fibromas, are a benign, cutaneous
manifestation of tuberous sclerosis. They are disfiguring, painful, and challenging to treat as …

Ash-leaf spots or naevus depigmentosus: a diagnostic challenge

R Jindal, A Jain, A Gupta, N Shirazi - Case Reports, 2013 - casereports.bmj.com
Ash-leaf spots, a diagnostic manifestation of tuberous sclerosis complex, are sometimes
difficult to differentiate from other hypopigmented lesions. Vitiligo, naevus anaemicus and …

Clinicopathologic correlation of dermatologic diseases in patients with darker pigmentation

S Tripathy, E Warbasse, S Ronen… - American Journal of …, 2024 - academic.oup.com
Objectives Cutaneous diseases that disproportionately affect patients with darker
pigmentation and their histologic features are historically understudied and undertreated …

[HTML][HTML] Odontogenic myxofibroma of gingiva in a pediatric patient with tuberous sclerosis: A rare case report

N Bhoyar, S Gupta, S Ghosh - Contemporary Clinical Dentistry, 2016 - journals.lww.com
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease, with an estimated
incidence of 1 in 6000–1 in 10,000. TSC is an autosomal dominant syndrome involving …

The clinical and paraclinical manifestations of tuberous sclerosis complex in children

M Barzegar, B Poorshiri, L Yousefi, S Raeisi… - Acta Neurologica …, 2022 - Springer
Tuberous sclerosis complex (TSC) is an autosomal-dominant, multi-system, neurocutaneous
disorder characterized by hamartomas in multiple organs. This study aimed to evaluate the …