Results 31 to 40 of about 1,616 (165)

Validation of the German version of Infants and Toddlers Dermatology Quality of Life (InToDermQoL) Questionnaire

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler, Neuza da Silva Burger, Matthias Augustin, Hagen Ott, Sanna Hoffmann, Regina Fölster‐Holst, Maria Baumeister, Petra Staubach, Rachel Sommer   +8 more
wiley   +1 more source

Autoinflammatory keratinization diseases: The concept, diseases involved, and pathogeneses

Dermatologica Sinica, 2022
As predisposing factors and pathogenic mechanisms of inflammatory keratinization disorders of the skin have become increasingly elucidated in recent years, a number of inflammatory keratinization disorders are now known to have the excessive activation ...
Masashi Akiyama
doaj   +1 more source

Plantar Lichen Planus

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Plantar Lichen Planus is a rare and often underrecognized variant of Lichen Planus that can mimic pityriasis rubra pilaris and psoriasis clinically. Accurate diagnosis relies on clinicopathological correlation, and a high index of suspicion is essential in atypical or treatment resistant plantar dermatoses for appropriate management.
Shraddha Uprety, Pratichya Thapa, Prakriti Lamichhane, Sunil Jaiswal   +3 more
wiley   +1 more source

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
A rare homozygous variant in the PGM2L1 gene (NM_173582.6: c.1673delC, p.Thr558Ilefs*19) was identified in a patient presenting with developmental delay, seizures, and bilateral frontotemporal subarachnoid widening. ABSTRACT Background PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical ...
Mengmeng Niu, Dong Wang, Shanshan Jia
wiley   +1 more source

Acantholytic Pityriasis Rubra Pilaris Associated with Imiquimod 3.75% Application

Case Reports in Dermatological Medicine, 2011
Imiquimod is an immunomodulator with both antitumor and antiviral properties. It is currently available in two cream formulations as Aldara (imiquimod 5%) and the newly approved Zyclara (imiquimod 3.75%).
Natasha Atanaskova Mesinkovska, Danyelle Dawes, Apra Sood, Wilma Bergfeld   +3 more
doaj   +1 more source

Nilontinib induced keratosis pilaris atrophicans [PDF]

Dermatology Online Journal, 2016
Keratosis pilaris (KP) is a disorder of follicular keratinization that is characterized by keratin plugs in the hair follicles with surrounding erythema. A 46-year-old man with chronic myelogenous leukemia (CML) was started on nilotinib, a second generation tyrosine kinase inhibitor (TKI).
Khetarpal, Shilpi, Sood, Apra, Billings, Steven D   +2 more
openaire   +4 more sources

Keratosis Pilaris Rubra [PDF]

Archives of Dermatology, 2006
Keratosis pilaris is a common skin disorder of childhood that often improves with age. Less common variants of keratosis pilaris include keratosis pilaris atrophicans and atrophodermia vermiculata.In this case series from dermatology practices in the United States, Canada, Israel, and Australia, the clinical characteristics of 27 patients with ...
Ann L, Marqueling, Amy E, Gilliam, Julie, Prendiville, Alex, Zvulunov, Richard J, Antaya, Jeffrey, Sugarman, Mei-Lin, Pang, Phillip, Lee, Lawrence, Eichenfield, Brandie, Metz, Gerald N, Goldberg, Roderic J, Phillips, Ilona J, Frieden   +12 more
openaire   +2 more sources

Dermatologic Features of Endocrine Tumor Syndromes—Systematic Review and Meta‐Analysis

International Journal of Dermatology, Volume 65, Issue 3, Page 464-488, March 2026.
ABSTRACT Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development.
Sára Pálla, Zseraldin Metyovinyi, Fanni Adél Meznerics, Arash Mirzahosseini, Judit Tőke, Miklós Tóth, Henriett Butz, Attila Patócs, Márta Medvecz   +8 more
wiley   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Early-Onset Graham-Little-Piccardi-Lasseur Syndrome with Cutaneous Lichen Planus – A Rare Case Report and Review of Literature

Clinical Dermatology Review
Graham-Little-Piccardi-Lasseur syndrome (GLPLS) is a rare condition characterized by lichen planopilaris with scarring alopecia of the scalp and nonscarring alopecia of the axilla, groin, and pubis with keratosis pilaris.
Saritha Mohanan, R Remya Raj, K V Bharathi, P Suba   +3 more
doaj   +1 more source