Results 51 to 60 of about 517,181 (258)
Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis [PDF]
Journal of Clinical and Diagnostic Research, 2015 Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between.
Swati Rathore +4 more
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Short stature with congenital ichthyosis [PDF]
BMJ Case Reports, 2015 PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome.
Som Lakhani, Om J Lakhani
openaire +3 more sources
Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis
罕见病研究, 2023 Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice. We recently identified a family of autosomal recessive congenital ichthyosis and performed multigene exome sequencing for hereditary skin diseases
LIU Juan +6 more
doaj +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
Harlequin ichthyosis: A case image from Syria
Clinical Case Reports, 2022 Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh +3 more
doaj +1 more source
Clinical observation of familial cases of congenital ichthyosis
Педиатрическая фармакология, 2023 Background. Ichthyosis is a group of rare genetic diseases with a wide phenotypic spectrum, characterized most often by generalized hyperkeratinization and desquamation with variable erythema [1].
Nailya R. Pimenova +2 more
doaj +1 more source
Amnion Nodosum and Congenital Ichthyosis [PDF]
American Journal of Clinical Pathology, 1977 Histologic characteristics of the placentas in four cases of amnion nodosum and congenital ichthyosis, a rare association, are presented. Two cases were missed abortions of a single multiparous woman, supporting the hypothesis that in congenital ichthyosis amnion and skin share an abnormal genetic trait.
Aparecida Gomes Pinto Garcia +3 more
openaire +2 more sources
Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]
, 2011 Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore +6 more
core +3 more sources
Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India
Indian Journal of Dermatology, 2017 Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes.
Arghyaprasun Ghosh +4 more
doaj +1 more source
Interventions for congenital ichthyosis
Cochrane Database of Systematic Reviews, 2014 Reason for withdrawal from publication The authors have relinquished responsibility for this protocol. It was published several years ago, and Cochrane Skin have decided to withdraw it (Managing Editor, Cochrane Skin).
Danielsen, Patricia L +4 more
openaire +4 more sources