Results 41 to 50 of about 2,708 (203)

Gorlin syndrome

Indian Journal of Dermatology, 2013
Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones.
Basanti Devi, Binodini Behera, Sibasish Patro, Subhransu S Pattnaik, Manas R Puhan   +4 more
doaj   +1 more source

Observations on Four Cases of Brooke–Spiegler Syndrome

Reports, 2020
Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly:
Mihaela Leventer, Casandra Coltoiu, Alexandra Zota, Tiberiu Tebeica, Carmen Lisievici, Alina Martinescu   +5 more
doaj   +1 more source

Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in DST gene: first Italian case and literature review

Dermatology Reports
Epidermolysis bullosa simplex (EBS), the most common type of EB, is characterized by skin fragility and blister formation within the basal epidermal layer. Most cases are due to autosomal dominant mutations in the keratin genes, KRT5 and KRT14. However,
Andrea Diociaiuti, Ruggiero Davide Zingarelli, Dario Francesco D'Urso, Giovanna Zambruno, May El Hachem   +4 more
doaj   +1 more source

Skin Necrosis in Children: Genodermatosis

Cristina Has, Agnes Schwieger‐Briel
openalex   +3 more sources

Applicability of Novel Laser Scanning Microscopy Techniques in Demonstrating Characteristic Features of Porokeratosis: In Vivo and Ex Vivo Investigation

JEADV Clinical Practice, EarlyView.
ABSTRACT Background Porokeratoses represent a group of keratinization disorders characterized histopathologically by the presence of a cornoid lamella. The recognition of porokeratosis as a genodermatosis, along with its association with increased risk of skin cancer, underscores the importance of accurate and timely diagnosis.
Rahime Inci, Noora Neittaanmäki, Jeemol James, Marica B. Ericson, Sirkku Peltonen, Despoina Kantere   +5 more
wiley   +1 more source

[Piebaldisme: a rare genodermatosis].

The Pan African medical journal, 2017
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution.
Fatima Zahra, Debbarh, Fatima Zahra, Mernissi   +1 more
openaire   +2 more sources

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes

Biomedicines, 2022
Revertant mosaicism (RM) is the intriguing phenomenon in which nature itself has successfully done what medical science is so eagerly trying to achieve: correcting the effect of disease-causing germline variants and thereby reversing the disease ...
Peter C. van den Akker, Maria C. Bolling, Anna M. G. Pasmooij   +2 more
doaj   +1 more source

Dupilumab in the treatment of genodermatosis: A systematic review [PDF]

, 2023
Po‐Chien Wu, Ying‐Xiu Dai, Chia‐Lun Li, Chih‐Chiang Chen, Yun‐Ting Chang, Sheng‐Hsiang Ma   +5 more
openalex   +1 more source

Damaged Keratin Filament Network Caused by KRT5 Mutations in Localized Recessive Epidermolysis Bullosa Simplex

Frontiers in Genetics, 2021
Epidermolysis bullosa simplex (EBS) is a blistering dermatosis that is mostly caused by dominant mutations in KRT5 and KRT14. In this study, we investigated one patient with localized recessive EBS caused by novel homozygous c.1474T > C mutations in ...
Fuying Chen, Fuying Chen, Lei Yao, Lei Yao, Xue Zhang, Xue Zhang, Yan Gu, Yan Gu, Hong Yu, Zhirong Yao, Zhirong Yao, Jia Zhang, Jia Zhang, Ming Li, Ming Li   +14 more
doaj   +1 more source