Results 61 to 70 of about 10,016 (183)
Critical role of keratinocytes and protease‐activated receptor 2 in secondary lymphedema development
Clinical and Translational Medicine, Volume 16, Issue 6, June 2026.Activated keratinocytes play an important role in the early stage of the pathophysiology of secondary lymphedema through PAR2 signaling. Lymphatic injury‐induced protease activation stimulates keratinocyte PAR2 signaling, driving hyperkeratosis and Th2 inflammation, which can be therapeutically attenuated by teriflunomide. Abstract Background Secondary
Hyeung Ju Park +18 more
wiley +1 more source
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 +1 more source
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 +1 more source
Ichthyosis uteri with dysplasia - A case report
Indian Journal of Pathology and Microbiology, 2020 Ichthyosis uterus is an uncommon condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. This condition most commonly develops secondary to longstanding cervical obstruction or chronic inflammation.
Chitrawati B Gargade +1 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.We report a neonatal SDS patient with earliest onset of symptoms. The c.2935C>T and c.3149_3151delCAC compound heterozygous variants reported in this study expand the mutational spectrum of this disease. ABSTRACT Objective This investigation reports on a Shwachman‐Diamond syndrome (SDS) case arising from compound heterozygous genetic variations ...
Xiaoying Zhou +4 more
wiley +1 more source
Resolution of Pseudoainhum with Acitretin in Lamellar Ichthyosis
Nepal Journal of Dermatology, Venereology & LeprologyLamellar ichthyosis is an autosomal recessive type of ichthyosis characterized by abnormal skin scaling, ectropion and ear abnormalities. Pseudoainhum is the appearance of constriction bands around digits which can lead to autoamputation of digits. Here
Srisukhirthi Sukumar +2 more
doaj +1 more source
The Journal of Pathology, Volume 269, Issue 2, Page 232-247, June 2026.Abstract Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water‐holding functions and in initiating AD‐like skin symptoms and disease‐specific molecular alterations, we generated Tg mice overexpressing a mutant form of ...
Mariko Takada +8 more
wiley +1 more source
Indian Journal of Paediatric DermatologyLamellar ichthyosis, a severe form of congenital ichthyosis, is often complicated by ectropion that, if unmanaged, can result in permanent vision loss. We report a 5-month-old infant of lamellar ichthyosis with bilateral grade III ectropion treated with ...
Shreshthangsha Sayan Biswas +2 more
doaj +1 more source
Experimental Dermatology, Volume 35, Issue 6, June 2026.ABSTRACT Autosomal recessive nonsyndromic epidermal differentiation disorders (AR‐nEDDs), also known as autosomal recessive congenital ichthyosis (ARCI), are rare genetic skin diseases that lack curative treatments and can only be managed symptomatically.
Hao‐Hsiang Hsu‐Rehder +9 more
wiley +1 more source