Results 61 to 70 of about 7,127 (212)

Hereditary hypotrichosis simplex of the scalp

open access: yesIndian Journal of Dermatology, 2014
Hereditary hypotrichosis simplex of the scalp is a genetic disorder, characterized by sparse or absent scalp hair without structural defects, in the absence of other ectodermal or systemic abnormalities.
Hamideh Moravvej-Farshi   +2 more
doaj   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

open access: yesJournal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
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

A case of Hallermann-Streiff-Francois syndrome : an ophthalmological perspective [PDF]

open access: yes, 2017
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  

Therapeutic potential of bimatoprost for the treatment of eyebrow hypotrichosis

open access: yesDrug Design, Development and Therapy, 2018
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  

Proliferative and neoplastic aural pinna masses in a collection of African giant pouched rats (Cricetomys ansorgei)

open access: yesVeterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract This case series describes aural lesions occurring in five African giant pouched rats (Cricetomys ansorgei) residing at a single zoological institution in southern California. Age of onset ranged from 3 to 7 years. Lesions occurred as single or multiple masses on one or both ears. A single case also developed a nasal mass.
Amanda Burke   +4 more
wiley   +1 more source

Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

open access: yes, 2015
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   +2 more sources

Fecal and Clinical Profiles of Dogs With Chronic Enteropathies Treated With Bile Acid Sequestrants for 5–47 Months: A Retrospective Case Series

open access: yesJournal of Veterinary Internal Medicine, Volume 39, Issue 5, September/October 2025.
ABSTRACT Background Bile acid (BA) malabsorption and BA diarrhea (BAD) are prevalent but underdiagnosed conditions in people with chronic diarrhea of multiple causes. Recent studies have shown BA dysmetabolism in dogs with chronic enteropathies (CE). Objective Describe canine inflammatory bowel disease activity index (CIBDAI), dysbiosis index (DI) and ...
Linda Toresson   +7 more
wiley   +1 more source

Monilethrix: a typical case report with microscopic and dermatoscopic findings [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2015
Monilethrix is a rare hereditary condition generally considered to be an autosomal dominant disorder with variable penetrance. A case of a 6-year-old girl without a familial background for this disease is reported.
Elisa Fontenelle de Oliveira   +1 more
doaj   +2 more sources

Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]

open access: yes, 2008
Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando   +4 more
core  

Hypohidrotic Ectodermal Dysplasia with total anodontia: a case report [PDF]

open access: yes, 2011
Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack ...
Sathyajith Naik, N.   +3 more
core   +1 more source

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