Results 71 to 80 of about 14,698 (215)
Extradural Analgesia and Ichthyosis [PDF]
Obstetric Anesthesia Digest, 1984 Summary Extradural analgesia is well established for relief of pain but in certain cases unusual difficulties may be encountered. We report our experiences of a patient with congenital ichthyosis who required extradural analgesia for the relief of pain in labour.
G, Smart, E G, Bradshaw
openaire +2 more sources
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud +12 more
wiley +1 more source
Genetic Linkage of the Keratin Type II Gene Cluster with Ichthyosis Bullosa of Siemens and with Autosomal Dominant Ichthyosis Exfoliativa [PDF]
, 1994 Ichthyosis bullosa of Siemens is an autosomal dominant disease characterized by mild hyperkeratosis and blistering. Autosomal dominant ichthyosis exfoliativa is a recently described disease with clinical features similar to ichthyosis bullosa of Siemens,
Lavrijsen, Adriana P M +6 more
core +1 more source
Ichthyosis uteri with dysplasia - A case report
Indian Journal of Pathology and Microbiology, 2020 Ichthyosis uterus is an uncommon condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. This condition most commonly develops secondary to longstanding cervical obstruction or chronic inflammation.
Chitrawati B Gargade +1 more
doaj +1 more source
Early Acitretin Therapy in a Patient With Harlequin Ichthyosis
JEADV Clinical Practice, Volume 5, Issue 3, Page 959-962, September 2026.ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark +2 more
wiley +1 more source
Resolution of Pseudoainhum with Acitretin in Lamellar Ichthyosis
Nepal Journal of Dermatology, Venereology & LeprologyLamellar ichthyosis is an autosomal recessive type of ichthyosis characterized by abnormal skin scaling, ectropion and ear abnormalities. Pseudoainhum is the appearance of constriction bands around digits which can lead to autoamputation of digits. Here
Srisukhirthi Sukumar +2 more
doaj +1 more source
Journal of Dermatology and Dermatologic Surgery, 2016 Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases.
Yousef Binamer
doaj +1 more source
Italian Journal of Pediatrics, 2020 Background Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life.
Cinzia Auriti +8 more
doaj +1 more source
ASPRV1R208M in a patient with a nonsyndromic epidermal differentiation disorder/ichthyosis
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Wei Wang +3 more
wiley +1 more source