Results 61 to 70 of about 14,698 (215)
Pediatric Dermatology, EarlyView.ABSTRACT We present a case where the combination of severe hydrops fetalis, lymphangiectasia, and skin desquamation created a clinical picture that masqueraded as epidermolysis bullosa (EB). A neonate presented at birth with severe hydrops fetalis and extensive skin sloughing.
Sophia Rafferty +5 more
wiley +1 more source
Harlequin Ichthyosis: a rare congenital dermatological disorder [PDF]
, 2017 Harlequin Ichthyosis is the most severe form of congenital Ichthyosis presenting at birth. It is a very rare disorder with autosomal recessive inheritance. Perinatal mortality is high and the survivors develop severe erythroderma subsequently.
Mehrotra, Manju +3 more
core +1 more source
BiomedicinesInherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the ...
Tiziana Fioretti +23 more
doaj +1 more source
Onychogryposis Secondary to Underlying Phalangeal Non‐Union
JEADV Clinical Practice, EarlyView.
Sunil Jaiswal +5 more
wiley +1 more source
Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog
Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein +3 more
wiley +1 more source
Balkan Journal of Medical Genetics, 2023 Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss.
Kalezić T +6 more
doaj +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1759-1771, September 2026.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
A case report of squamous cell carcinoma in ichthyosis hystrix Curth-Macklin
Turkderm Turkish Archives of Dermatology and VenereologyThe Curth-Macklin type of ichthyosis hystrix is an extremely rare genodermatosis presenting as generalized or nevoid forms. Clinical expression varies in the time of onset and morphology, even within families, from painful palmoplantar keratoderma to a ...
Vishalakshi Pandit, Rakesh Yelhanka
doaj +1 more source
A case of ichthyosis hystrix: Unusual manifestation of this rare disease
Indian Journal of Dermatology, 2014 Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales mainly over extensor aspects of limbs with palmoplantar keratoderma and occasionally associated with deafness and neurological
Projna Biswas +5 more
doaj +1 more source