Results 11 to 20 of about 248,586 (158)
Spontaneous subconjunctival abscess in congenital lamellar ichthyosis
Indian Journal of Ophthalmology, 2018 Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids.
Shivanand C Bubanale +2 more
doaj +2 more sources
Quality of life in Swedish children with congenital ichthyosis [PDF]
Dermatology Reports, 2010 Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj +2 more sources
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 +2 more sources
Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis
Journal of Pediatric and Neonatal Individualized Medicine, 2019 In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD).
Kubra Baskin +3 more
doaj +2 more sources
Lamellar congenital ichthyosis in practice of dermatologists
Vestnik Dermatologii i Venerologii, 2017 The paper describes 2 cases of congenital lamellar ichthyosis debuting state «collodion baby». Presented features of clinical manifestations: in newborn all skin is covered with a thin dry yellowish-brown film, resembling collodion, also ectropion and ...
S. V. Koshkin +4 more
doaj +2 more sources
Distinct skin microbiome community structures in congenital ichthyosis. [PDF]
Br J Dermatol, 2022 \ua9 2022 British Association of Dermatologists. Background: The ichthyoses are rare genetic keratinizing disorders that share the characteristics of an impaired epidermal barrier and increased risk of microbial infections.
Tham KC +16 more
europepmc +7 more sources
Ichthyin (NIPAL4)-autosomal recessive congenital ichthyosis with atopic diathesis: Case report and literature review [PDF]
Journal of Dermatology and Dermatologic Surgery, 2016 Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases.
Yousef Binamer
doaj +2 more sources
Indian Journal of Paediatric Dermatology, 2018 Bathing suit ichthyosis (BSI) is a rare, autosomal recessive form of congenital ichthyosis. The phenotypic expression of this unique form of ichthyosis is limited to the involvement of bathing suit area owing to the temperature-sensitive mutation of ...
Sahana M Srinivas +2 more
doaj +2 more sources
Congenital Ichthyosis: A Practical Clinical Guide on Current Treatments and Future Perspectives. [PDF]
Clin Cosmet Investig Dermatol, 2023 Evelyn Lilly,1 Christopher G Bunick2 1Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA; 2Department of Dermatology and Program in Translational Biomedicine, Yale School of Medicine, New Haven, CT ...
Lilly E, Bunick CG.
europepmc +2 more sources
A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris. [PDF]
Clin Case Rep, 2023 Key Clinical Message Coexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management.
Shearer Z +5 more
europepmc +2 more sources