Results 91 to 100 of about 31,665 (304)
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
Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020
Andrology, EarlyView.Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu +7 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 +6 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 +2 more
doaj +1 more source
Neonatal Skin Disorders: A Review of Selected Dermatologic Abnormalities
, 2000 The skin serves many purposes, acting as a barrier to infection, protecting internal organs, contributing to temperature regulation, storing insulating fats, excreting electrolytes and water, and providing tactile sensory input. This article focuses on a
Banta-Wright, Sandra, Campbell, Juliana
core +1 more source
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, EarlyView.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 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
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
Squamous Cell Carcinoma of Endometrium with Extensive Icthyosis Uteri [PDF]
, 2011 We report a rare case of squamous cell carcinoma of endometrium arising in icthyosis uteri in a 60 years old lady presenting with vaginal ...
J, Padmini, K, Amita
core
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler +8 more
wiley +1 more source