Results 81 to 90 of about 3,504 (191)

Urbach-Wiethe syndrome: report of two clinical cases

Dermatology Reports
Urbach-Wiethe syndrome, also known as lipoid proteinosis (LP), is a rare genodermatosis clinically characterized by mucocutaneous lesions, dysphonia with onset in early childhood, and, sometimes, neurological complications.
Ilaria Demofonte, Emanuele Miraglia, Giovanni Pellacani, Sandra Giustini   +3 more
doaj   +1 more source

A rare presentation of multiple eruptive vellus hair cysts and dystrophic nails in a pediatric patient with Stüve-Wiedemann syndrome

JAAD Case Reports, 2023
Nouf Almuhanna, MD, Lulwa Alogayell, MD, Sarah Alkhezzi, MD, Salman Al-Malki, MD, Rasha Alhamazani, MD, Fatimah Altassan, MD, Alanoud Alsuhibani, MD, Yazeed Alowairdhi, MD, Khalid Alekrish, MD, Faris A. Alhomida, MD   +9 more
doaj   +1 more source

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome

, 2012
Olmsted syndrome (OS) is a rare genodermatosis that is often difficult to diagnose because of clinical overlap with other disorders and its uncertain mode of inheritance. The molecular basis of OS was investigated in an Indian boy using comparative exome
McGrath, J A, Simpson, M A, Lai-Cheong, J E, Ramam, M, Sethuraman, G, Stone, Katie   +5 more
core   +1 more source

Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation

JAAD Case Reports, 2021
Lama Altawil, MD, Hind Alshihry, MD, Huda Alfaraidi, MD, Amal Alhashem, MD, Ahmed Alhumidi, MD, Fowzan S. Alkuraya, MD   +5 more
doaj   +1 more source

Pachyonychia congenita: a rare genodermatosis

, 2014
Yavuz, İbrahim Halil, Güneş Bilgili, Serap   +1 more
openaire   +2 more sources

Incontinencia pigmentaria asociada a fisura palatina. Reporte de un caso

, 2013
ResumenLa incontinencia pigmentaria (IP2, síndrome de Block-Sulzberger) es un raro caso de genodermatosis de herencia ligado a X dominante, afectando en su mayoría a mujeres.
Verdugo, Francisco Javier, Inostroza, María Antonieta   +1 more
core   +1 more source

The role of dupilumab in skin microbiome shifts in the Netherton genodermatosis: a case report and review of literature

Frontiers in Medicine
Skin dysbiosis plays a crucial role in inflammatory skin diseases, particularly in genodermatoses such as Netherton syndrome (NS). This case report aimed to investigate changes in the skin microbiome of a patient with Netherton syndrome before and during
Elena Campione, Anna Simonelli, Enrico Salvatore Pistoia, Terenzio Cosio, Fabio Artosi, Laura Diluvio, Luca Bianchi, Roberta Gaziano, Roberta Gaziano   +8 more
doaj   +1 more source

Fibroblast Growth Factor Receptor 2 Overexpression in Multiple Familial Trichoepithelioma [PDF]

Multiple familial trichoepithelioma (MFT) is included within a spectrum of genodermatosis with development of different benign adnexal neoplasms and mutation described in the cylindromatosis tumor suppressor (CYLD ...
Gallo Pineda, Gonzalo, Jiménez Gallo, D., Jimenez Anton, Alicia, Linares Barrios, Mario Dionisio, Millán Cayetano, José Francisco   +4 more
core   +1 more source

[Lamellar ichthyosis, uncommon genodermatosis].

Ginekologia polska, 1994
Authors have performed the main types of the ichthyosis, the emphasis has been placed on Lamellar Ichthyosis, because the case of this rare disease occurred in a hospital in Pleszew. The paper contains the case report and detailed description of Lamellar Ichthyosis: clinical signs, prenatal diagnosis and treatment.
J, Rataj, M, Kornacka, A, Mościcka
openaire   +1 more source

Issue Information

JEADV Clinical Practice, Volume 5, Issue 1, Page 1-6, March 2026.
wiley   +1 more source