ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. [PDF]
Anim GenetAbstract Ichthyoses are a heterogenous group of inherited disorders that are characterized by excessive scale formation on the skin. We investigated a Chihuahua with severe scaling since age 12 weeks. The scaling was generalized and involved the entire body and legs. The paw pads were mildly hyperkeratotic.
Vinberg C +5 more
europepmc +2 more sources
Superficial epidermolytic ichthyosis
Indian Journal of Dermatology, Venereology, and Leprology, 2015 Anupam Das +4 more
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A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]
Clin Case RepABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Zaeem M +6 more
europepmc +2 more sources
Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis. [PDF]
, 2023 Jagannathan, Vidhya +4 more
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Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin [PDF]
British Journal of DermatologyAbstract Background No efficient treatment has yet been established for epidermolytic ichthyosis (EI), which is caused by pathogenic variants of KRT1 or KRT10. Patients with ichthyosis with confetti (IWC) have multiple normal-appearing spots, caused by the revertant somatic recombination of pathogenic
Kana Tanahashi +8 more
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Psoriasis: Targets and TherapyQianyue Xu,1– 3 Jia Zhang1– 3 1Dermatology Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, People’s Republic of China; 2Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine ...
Xu Q, Zhang J
doaj +1 more source
Two cases of
Pediatric Dermatology, 2023 AbstractEpidermolytic ichthyosis (EI) is a rare genetic disorder of keratinization caused by mutations in either KRT1 or KRT10. Histopathologically, epidermolytic hyperkeratosis (EHK) is a hallmark of EI. Here, we report two EI cases in which KRT1 mutation was confirmed by molecular study, but without typical EHK present on skin biopsies performed ...
Taehee Kim, Soo‐Chan Kim, Sang Eun Lee
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Congenital ichthyosis in a Maltese dog: A case report
Veterinární Medicína, 2021 This case report describes congenital ichthyosis in a Maltese dog, a condition, which has not previously been reported in this breed. The dog presented with several dry, tightly adhering scales showing a multi-focal appearance.
Kim TS +5 more
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Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis
Pediatric Investigation, 2023 Importance Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.
Zhou Yang +5 more
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Ichthyosis (concept, pathohistology, clinical picture, treatment)
Vestnik Dermatologii i Venerologii, 2021 Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales.
Tatyana Gennadyevna Takhtarova +3 more
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