Results 51 to 60 of about 14,698 (215)

Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient

Case Reports in Dentistry, 2014
Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns.
Kavitha Ramar, Sankar Annamalai, V. P. Hariharavel, R. Aravindhan, C. Ganesh, K. Ieshwaryah   +5 more
doaj   +1 more source

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

Dermatologica Sinica, 2019
Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses.
Evren Gumus
doaj   +1 more source

European S2k guidelines for hidradenitis suppurativa/acne inversa Part 1. Epidemiology, diagnosis and clinical assessment

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Updated S2k hidradenitis suppurativa (HS) guidelines provide expert consensus on diagnosis, assessment and comorbidities. Expanded substantially since the 2015 version, they reflect rapid growth in HS literature and aim to improve generalist‐level patient care through evidence‐informed, consensus‐based guidance.
G. B. E. Jemec, B. Villumsen, K. R. van Straalen, H. H. van der Zee, S. Valiukevičienė, T. Tzellos, J. C. Szepietowski, A. Szegedi, D. M. L. Saunte, M. Romanelli, H. Raynal, F. Prignano, E. P. Prens, M. Podda, A. Nassif, A. Molina‐Leyva, Ł. Matusiak, A. V. Marzano, B. M. McGrath, A. I. Liakou, B. Kirby, L. Kemény, E. Just, D. Ioannidis, J. R. Ingram, R. E. Hunger, B. Horváth, P. Guillem, Ø. Grimstad, E. J. Giamarellos‐Bourboulis, M. Dolenc‐Voljč, V. Del Marmol, Z. Bukvić Mokos, V. Bettoli, F. Benhadou, F. G. Bechara, C. C. Zouboulis   +36 more
wiley   +1 more source

Atypical Presentation of Sjögren-Larsson Syndrome

Case Reports in Pediatrics, 2017
Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal
D. Papathemeli, A. Mataftsi, A. Patsatsi, D. Sotiriadis, M. Samouilidou, S. Chondromatidou, A. Evangeliou   +6 more
doaj   +1 more source

Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

Indian Journal of Dermatology, 2017
Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes.
Arghyaprasun Ghosh, Rahul Ahar, Gobinda Chatterjee, Neha Sharma, Shruti Alhad Jadhav   +4 more
doaj   +1 more source

Cachexia and Diffuse “Fish-Scale” Skin

Annals of Internal Medicine: Clinical Cases, 2022
Ichthyosis is marked by dry, thickened, scaly skin. It may be genetic or acquired. Importantly, it may be a cutaneous manifestation of an underlying malignancy. Here, we present a striking case of paraneoplastic ichthyosis.
Charith Sairam, Mélanie J. Langelier, Donald C. Vinh   +2 more
doaj   +1 more source

Oral Lichenoid Lesions in Patients With Dyskeratosis Congenita: A Retrospective Case Series

Oral Diseases, EarlyView.
ABSTRACT Background Dyskeratosis congenita (DKC) is a rare inherited multisystem disorder primarily affecting the mucocutaneous and hematopoietic systems. Classically, it presents with the ectodermal triad of reticulate skin pigmentation, nail dystrophy, and oral leukoplakia.
Yehuda Zadik, Ori Finfter, Tevel Amiel, Amina Massarwa, Refael Cohen, Jawad Abu Tair, Anna Novikov, Polina Stepensky, Irina Zaidman, Ehud Even‐Or   +9 more
wiley   +1 more source

Illuminating Connections: Exploring the Dynamic Relationship Between Phototherapy and the Skin

Pediatric Dermatology, EarlyView.
ABSTRACT The neonatal period represents a critical window for skin barrier maturation, microbial colonization, and immune development. As such, early‐life exposures may exert lasting effects on dermatologic and systemic health. A common early‐life exposure is blue light phototherapy (BLP), a life‐saving treatment for neonatal hyperbilirubinemia ...
Meshi Paz, Peter Lio
wiley   +1 more source

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene

Dermatologica Sinica, 2018
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta Nagy   +4 more
doaj   +1 more source

Two Entities, One Patient

JEADV Clinical Practice, EarlyView.
Wael Zaina, Tomer Cohen, Judit Krausz, Michael Ziv, Roni P. Dodiuk‐Gad   +4 more
wiley   +1 more source