Results 91 to 100 of about 17,886 (208)

Erythrokeratodermia‐Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions

Pediatric Dermatology, EarlyView.
ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Sepideh Hamzehlou, Ryland D. Mortlock, Caroline Echeandia‐Francis, Jing Zhou, Chao Xing, Nnenna G. Agim, Keith A. Choate, Donald A. Glass II   +7 more
wiley   +1 more source

Research progress on phosphodiesterase 4 inhibitors in the treatment of palmoplantar pustulosis

Pifu-xingbing zhenliaoxue zazhi
Palmoplantar pustulosis (PPP) is a chronic recurrent inflammatory skin disease. Existing therapeutic methods cannot meet the demand by patients. Phosphodiesterase-4 (PDE-4) is a key enzyme involved in the balance of immunocytes.
YAO Xinyi, Gao Wenli, LI Juan, ZHANG Junling   +3 more
doaj   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Liquen nítido geneneralizado associado à síndrome de Down: relato de caso [PDF]

, 2012
Lichen nitidus is a disease of unknown etiology, characterized by flesh-colored, shiny papules of 1-2 mm and generally asymptomatic or with mild pruritus. The most common sites of occurrence are genitalia, upper limbs, trunk and abdomen.
Botelho, Luciane Francisca Fernandes, Cestari, Silmara da Costa Pereira, Enokihara, Mílvia Maria Simões e Silva, Magalhães, João Paulo Junqueira de, Ogawa, Marília Marufuji   +4 more
core   +4 more sources

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 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

Eczema in Psoriatico: An Important Differential Diagnosis Between Chronic Allergic Contact Dermatitis and Psoriasis in Palmoplantar Localization

Acta Dermato-Venereologica, 2017
Differential diagnosis of palmoplantar non-pustular psoriasis and chronic allergic contact dermatitis (ACD) and the combination of these conditions, termed "eczema in psoriatico" (EIP), is difficult, especially in cases of isolated involvement.
Malgorzata Kolesnik, Ingolf Franke, Anke Lux, Sven R. Quist, Harald P. Gollnick   +4 more
doaj   +1 more source

Bimekizumab plus topical photochemotherapy effective in palmoplantar pustulosis in a patient with hidradenitis suppurativa

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Neda Cramer, Johannes Mohr, Michael P. Schön, Rotraut Mössner   +3 more
wiley   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
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