Results 91 to 100 of about 6,541 (223)

Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene [PDF]

, 2020
Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as ‘comedo nevus’ and renamed ‘PEODDN’; it has also been referred to as linear eccrine nevus with comedones, porokeratotic eccrine ostial and hair ...
Alomran, Husain, Kanitakis, Jean
core  

Zinser–Engmann–Cole syndrome: Two case report

Indian Journal of Paediatric Dermatology, 2019
We report two cases of dyskeratosis congenita. Case 1: An 11-year-old male child presented to us with severe anemia and pancytopenia resulting in cardiac failure, in addition to the classical clinical triad including skin atrophy with mottled ...
Bangaru Hanumaiah, Sathish Shankar, Nanjunda Swamy B Lingaiah   +2 more
doaj   +1 more source

Atypical Presentation of Papillon–Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement

Reports
Background and Clinical Significance: Papillon–Lefèvre syndrome (PLS) is an autosomal recessive genetic skin disorder. Genetic studies have demonstrated that mutations in the Cathepsin-C (CTSC) gene, mapped to chromosome 11q14.1–q14.3, are responsible ...
Mishari Alrubaiaan, Mansour Almutairi, Waleed Alajroush   +2 more
doaj   +1 more source

Cutaneous adverse events associated with BRAF and MEK inhibitors: a systematic review and meta-analysis

Frontiers in Pharmacology
AimCutaneous adverse events (CAEs) after treatment with BRAF and MEK inhibitors in patients with melanoma remain incompletely characterized. To determine the association of BRAF and MEK inhibitor treatment with CAEs in patients with melanoma compared ...
Junhui Qian, Jinlong Wan, Qin Yao, Yin Chen, Tao Ling, Yuejuan Zhang, Zhihua Tang   +6 more
doaj   +1 more source

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma

Frontiers in Oncology
Olmsted syndrome (OS) is a rare congenital skin disorder, typically characterized by symmetrical, severe palmoplantar and periorificial keratoderma, often accompanied by alopecia, and onychodystrophy, with varying degrees of pruritus and pain.
Yangyang Hao, Rong Wu, Xi Chen, Yunjia Shen, Mengwei Chou, Jianqiang Yang   +5 more
doaj   +1 more source

Aquagenic Palmoplanta keratoderma: Response to Topical Pimecrolimus and Literature Review

Clinical, Cosmetic and Investigational Dermatology
Jinpeng Shan, Rukang Chen Department of Dermatology, The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, 310005, People’s Republic of ChinaCorrespondence: Rukang Chen, Department of Dermatology, The Second ...
Shan J, Chen R
doaj  

Study of three common mitochondrial mutations in Arab patients with nonsyndromic hearing loss in Khuzestan province, I.R.Iran [PDF]

, 2012
زمینه و هدف : ناشنوایی یکی از شایع ترین اختلالات حسی –عصبی است که در هر 1000 تولد زنده رخ می دهد. بیشتر ناشنوایی ها منشا ژنتیکی داشته و حدود 2-0 موارد ناشنوایی مربوط به جهش در ژن های میتوکندریایی است.
Abolhasani, Marzieh., Ataii, Zohreh., Azadegan-Dehkordi, Fatemeh., Banitalebi, Golandam., Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Heydari, Soraya., Hoseinipoor, Azam., Montazerzohor, Mostafa., Reissi, Somayeh.   +9 more
core  

Issue Information

JEADV Clinical Practice, Volume 4, Issue 5, Page 953-958, December 2025.
wiley   +1 more source

Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
doaj   +1 more source

Linear Palmoplantar Keratoderma

Actas Dermo-Sifiliográficas (English Edition), 2018
A, Imbernón-Moya, A, Aguilar-Martínez, E, Vargas-Laguna   +2 more
openaire   +2 more sources