Results 61 to 70 of about 7,293 (261)
Hyperkeratosis of (a) the footpads and (b) the nasal planum. ABSTRACT Background Canine leishmaniosis (CanL) due to Leishmania infantum remains common, and veterinarians do not always follow scientifically sound approaches for diagnosis, treatment and prevention. Objectives To provide consensus guidelines for diagnosis and evidence‐based guidelines for
Manolis N. Saridomichelakis +9 more
wiley +1 more source
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation [PDF]
BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.
Bygum, Anette +4 more
core +2 more sources
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis [PDF]
Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program.
Adase, Christopher A +28 more
core +2 more sources
From Eye Care to Hair Growth: Bimatoprost
Background: Bimatoprost has emerged as a significant medication in the field of medicine over the past several decades, with diverse applications in ophthalmology, dermatology, and beyond.
Marco Zeppieri +7 more
doaj +1 more source
Glucagonoma and Glucagonoma Syndrome: An Updated Review
ABSTRACT Background Glucagonoma is a rare well‐differentiated slowly proliferating pancreatic neuroendocrine tumour, characterized by several manifestations including necrolytic migratory erythema, weight loss, diabetes and anaemia. Aim The purpose of the current review was to acknowledge literature about this rare tumour discerning the clinical ...
Sofia Anelli +8 more
wiley +1 more source
Therapeutic potential of bimatoprost for the treatment of eyebrow hypotrichosis
Nongsak Chanasumon, Tueboon Sriphojanart, Poonkiat Suchonwanit Division of Dermatology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand Abstract: Eyebrows serve as a key feature of the face and ...
Chanasumon N +2 more
doaj
A case of Hallermann-Streiff-Francois syndrome : an ophthalmological perspective [PDF]
Hallermann-Streiff-François syndrome is a rare condition which offers multidisciplinary diagnostic and therapeutic challenges. The difficulty in dealing with these cases is compounded by the presentation at a very young age.
Vassallo, James
core
A Practical Guide to Genetic Eye Conditions for Paediatricians
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin +5 more
wiley +1 more source
Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire +29 more
core +3 more sources

