Results 51 to 60 of about 5,336 (144)

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Epidermolytic hyperkeratosis (bullous ichthyosiform erythroderma) with rickets: a case report

, 2016
A 13-year-old girl presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs and limping for last 8 years. On the basis of the clinical, histopathologic and biochemical findings, she was diagnosed as a case
Atif Shehzad, Saira Shaheen
core   +1 more source

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis [PDF]

, 2003
Epidermolytic hyperkeratosis is a rare autosomal dominant inherited skin disorder caused by keratin 1 or keratin 10 mutations. Keratins are major structural proteins of the epidermis, and in keratinocytes committed to terminal differentiation the ...
Smith, Susan Kaye, Gedde-Dahl, Tobias, Gedde-Dahl Jr, Tobias, Kaye Smith, S., Vahlquist, Anders, Bowden, Paul Edward, Virtanen, Marie, Bowden, Paul E.   +7 more
core   +1 more source

Bullous Congenitalichthyosiform Erythroderma - PS 1 Type

Indian Journal of Dermatology, 2003
We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya, Rakhesh S. V, Thappa Devinder Mohan   +2 more
doaj  

Ichthyosis associated with rickets in two Indian children

Indian Journal of Dermatology, 2013
We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with ...
Dimple Kothari, Bhavana Doshi, Gaurav Garg, Uday S Khopkar   +3 more
doaj   +1 more source

Diagnostic Workup of Mosaicism in Children

JEADV Clinical Practice, Volume 4, Issue 3, Page 659-663, August 2025.
ABSTRACT Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential ...
Francesca Besagni, Alessandra Gelmetti, Annalucia Virdi, Bianca Maria Piraccini, Iria Neri   +4 more
wiley   +1 more source

Epidermolytic Ichthyosis Sine Epidermolysis [PDF]

, 2017
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required ...
Eskin-Schwartz, Marina, Natalia Malchin, Gat, Andrea, Sprecher, Eli, Marianna Drozhdina, Ofer Sarig, Shomron, Noam, Thomas Ruzicka, Green, Kathleen J., Kathleen J. Green, Tomer Jackman, Sergei Koshkin, Jackman, Tomer, Sarig, Ofer, Hovnanian, Alain, Andrea Gat, Noam Shomron, Marina Eskin-Schwartz, Dan Vodo, Drozhdina, Marianna, Ofer Isakov, Isakov, Ofer, Samuelov, Liat, Malchin, Natalia, Alon Peled, Jennifer L. Koetsier, Liat Samuelov, Eli Sprecher, Vodo, Dan, Koetsier, Jennifer L., Koshkin, Sergei, Harmon, Robert M., Robert M. Harmon, Paller, Amy S., Peled, Alon, Alain Hovnanian, Amy S. Paller, Ruzicka, Thomas   +37 more
core   +1 more source

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

Italian Journal of Pediatrics, 2022
Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma.
Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello   +7 more
doaj   +1 more source

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis

Veterinary Dermatology, Volume 36, Issue 3, Page 314-320, June 2025.
Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Stefan J. Rietmann, Jennifer L. Clegg, Vidhya Jagannathan, Dominique J. Wiener, Angelica Kallenberg, Robert A. Grahn, Clarissa P. Souza, Tosso Leeb   +7 more
wiley   +1 more source

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 5, Page 1028-1037, May 2025.
Abstract Background Keratinopathic ichthyoses are a group of hereditary skin disorders caused by pathogenic variants in keratin genes such as KRT1, KRT2 and KRT10, resulting in conditions such as epidermolytic ichthyosis (EI), autosomal‐recessive EI, superficial EI and epidermal nevus.
Leonie Frommherz, Kathrin Giehl, Josephine Hofmann, Stefanie Huebner, Kirstin Kiekbusch, Teodora Sabkova, Kira Süßmuth, Svenja Alter, Iliana Tantcheva‐Poór, Hagen Ott, Judith Fischer, Cristina Has   +11 more
wiley   +1 more source