Results 31 to 40 of about 1,964 (150)

Ichthyosis Prematurity Syndrome: A Systematic Review of the Literature

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT Background/Objectives Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive congenital disorder characterized by premature birth, neonatal respiratory distress, eosinophilia, and a thick, clay‐like vernix at birth. This review aims to summarize the available reported cases of IPS, including genetic etiology, clinical features ...
Grace X. Li   +3 more
wiley   +1 more source

Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT Marie Unna hereditary hypotrichosis 1 (MUHH1) is a rare autosomal dominant condition characterized by the absence or scarcity of hair at birth with the growth of coarse, wiry, and unruly hair during childhood and progressive hair loss after puberty.
Sarah Østergaard Holm   +5 more
wiley   +1 more source

Naegeli-Franceschetti-Jadassohn syndrome: A rare case

open access: yesIndian Dermatology Online Journal, 2015
Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene.
Bela J Shah   +3 more
doaj   +1 more source

Hypohidrotic Ectodermal Dysplasia [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2021
Chiranjit Ghosh   +2 more
doaj   +1 more source

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis

open access: yesAustralasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley   +1 more source

Symptomatic and asymptomatic hypohidrosis in children under topiramate treatment

open access: yesThe Turkish Journal of Pediatrics, 2005
Topiramate (TPM) has peculiar side effects such as speech difficulties, weight loss, oligohidrosis and hyperthermia. We present the frequency and severity of hypohidrosis in our patients under TPM treatment.
Kutluhan Yilmaz   +5 more
doaj  

Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association

open access: yesIndian Dermatology Online Journal, 2016
Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED.
Sunil K Kothiwala   +2 more
doaj   +1 more source

Assessing the prevalence of anticholinergic and sedative medications to avoid in older adults from the French Health Data System

open access: yesJournal of the American Geriatrics Society, Volume 73, Issue 5, Page 1542-1550, May 2025.
Abstract Background In older people, medications with anticholinergic or sedative properties are associated with falls, frailty, and functional and cognitive impairment. These medications are often described as a subset of potentially inappropriate medications (PIMs).
Teddy Novais   +4 more
wiley   +1 more source

Hypohidrosis and hyperthermia during topiramate treatment in children

open access: yesThe Turkish Journal of Pediatrics, 2012
Topiramate is one of the newer generation antiepileptic drugs with a beneficial clinical effect on various seizure types. In this study, we present the clinical findings of hypohidrosis and hyperthermia with topiramate in pediatric patients.
Faruk Incecik   +2 more
doaj  

Kindler syndrome with palmoplantar hyperhidrosis and blonde hair

open access: yesIndian Dermatology Online Journal, 2015
Kindler syndrome (KS) is a very rare genodermatosis characterized by acral blistering starting in infancy along with photosensitivity, progressive poikiloderma, cutaneous atrophy, and a variable degree of mucosal involvement.
Anshul Maheshwari   +3 more
doaj   +1 more source

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