Results 41 to 50 of about 10,297 (160)
Indian Journal of Dermatology, 2021 We report a case of annular epidermolytic ichthyosis (AEI) resulting from de novo keratin 1 gene mutation. AEI is a rare autosomal dominantly inherited cornification disorder and is a distinct phenotypic variant of bullous congenital ichthyosiform ...
Lihong Chen +4 more
doaj +1 more source
Generalized and Naevoid Epidermolytic Ichthyosis in Denmark : Clinical and Mutational Findings [PDF]
, 2013 A Danish Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis.
Bygum, Anette +11 more
core +1 more source
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin
Case Reports in Dermatology, 2015 Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma.
Fahad Almutawa +5 more
doaj +1 more source
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis
Pediatric Investigation, 2023 Importance Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.
Zhou Yang +5 more
doaj +1 more source
Dermatopathology, 2021 Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening.
Dieter Metze +2 more
doaj +1 more source
Trimethoprim/Sulfamethoxazole‐Induced Systemic Toxic Epidermal Necrolysis Syndrome: A Case Report
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Trimethoprim/sulfamethoxazole can induce life‐threatening toxic epidermal necrolysis. Early recognition, immediate drug cessation, and multidisciplinary supportive care are critical. Even with aggressive therapy, mortality remains high, and SCORTEN score aids in prognostication.
Qing Wang, Litong Chen, Wen Ye
wiley +1 more source
Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]
, 2007 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Chukwuka Elendu +6 more
wiley +1 more source
Selective Involvement of Keratins K1 and K10 in the Cytoskeletal Abnormality of Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma) [PDF]
, 1992 Aggregation of tonofilaments within epidermal keratinocytes is a characteristic histologic feature of epidermolytic hyperkeratosis including the generalized form known as bullous congenital ichthyosiform erythroderma.
Leigh, Irene M +11 more
core +1 more source
Congenital ichthyosis in a Maltese dog: A case report
Veterinární Medicína, 2021 This case report describes congenital ichthyosis in a Maltese dog, a condition, which has not previously been reported in this breed. The dog presented with several dry, tightly adhering scales showing a multi-focal appearance.
Kim TS +5 more
doaj +1 more source