Results 81 to 90 of about 8,727 (222)

Multilocus Genetic Variants in a Child With Neuro‐Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3–q32.11 Deletion

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuro‐ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5‐year‐old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis.
Bessan Hamed Dababseh, Ala'a S. Ghnimat, Lubna W. AbuHamdiya, Mones H. Atatre, Ahmad Batran, Mahdi W. Suboh   +5 more
wiley   +1 more source

Acute pityriasis rubra pilaris triggered by COVID‐19

JEADV Clinical Practice
Pityriasis rubra pilaris (PRP) can be triggered by viruses, such as cytomegalovirus, Epstein‐Barr virus, varicella zoster, human immunodeficiency virus and, more exceptionally, SARS‐CoV‐2. We report an additional case of PRP following COVID‐19 infection.
Diego Soto‐García, Marcos Oro‐Ayude, Carlos Álvarez, Sandra Martínez‐Fernandez, Carmen Couselo‐Rodríguez, Ángeles Flórez   +5 more
doaj   +1 more source

Особенности клинико-морфологических и эндокринных сдвигов у больных климактерической кератодермией [PDF]

, 2017
Цель работы: изучить клинические особенности, гистоморфологическую структуру поражений кожи, а также эндокринологические сдвиги у больных климактерической кератодермий, что позволит расширить познание механизмов развития этого дерматоза.
Сынах, О.К., Федотов, В.П.   +1 more
core  

Folliculotropic Mycosis Fungoides: Update on Diagnosis, Clinicopathological Stage, and Management

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Folliculotropic mycosis fungoides (FMF) is a rare subtype of MF, characterized by prominent folliculotropism in histopathology. Clinically, FMF exhibits polymorphic presentations, mainly including follicular papules, plaques, alopecia, and other nonspecific lesions, with a predilection for the head and neck region, leading to frequent misdiagnosis ...
Xingyu Li, Jie Liu, Nicola Pimpinelli
wiley   +1 more source

Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect [PDF]

, 2006
Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.
Protonotarios Nikos, Tsatsopoulou Adalena   +1 more
core   +1 more source

Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang, Qing Zhao, Hong Liu, Furen Zhang, Zhiqiang Song   +4 more
wiley   +1 more source

Acroqueratoelastoidosis de Costa: reporte de un caso esporádico

Medicina U.P.B., 2019
La acroqueratoelastoidosis de Costa es una rara genodermatosis autosómica dominante con expresividad variable, que se caracteriza por la presencia de múltiples pápulas hiperqueratósicas en la zona marginal de las manos, los pies o ambas.
Lina María Muñoz Ochoa, Melissa María Velilla Contreras, Jaime Ávila Cárdenas, José Manuel Ríos-Yuil   +3 more
doaj   +1 more source

Efficacy of Apremilast in Refractory Genital Psoriasis: A Retrospective Case Series

JEADV Clinical Practice, Volume 4, Issue 5, Page 1150-1156, December 2025.
ABSTRACT Background Genital pustular psoriasis is a rare and often underdiagnosed condition that can severely affect physical comfort, quality of life and psychological well‐being. It can be particularly challenging to manage, often requiring systemic therapies due to its potential unresponsiveness to conventional topical treatment.
Jonathan Krygier, Ursula Sass, Bertrand Richert   +2 more
wiley   +1 more source

A Case Report of Ichthyosis Lamellar Syndrome

پزشکی بالینی ابن سینا, 2014
Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency.
Gholamreza Eshghi, Bita Sharafi, Hasan Faghani   +2 more
doaj  

Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease)

Case Reports in Dermatology, 2019
Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, who presented with a 25-year history of asymptomatic persistent slowly progressing skin lesions on both hands.
Rahaf Bukhari, Waseem Alhawsawi, Aisha Ahmad Radin, Hawazin D. Jan, Khalid Al Hawsawi, Marwan Al Ahmadi   +5 more
doaj   +1 more source