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UnknownNovel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.
Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and erythematous scaly plaques predominantly in intertriginous regions. HHD is caused by ATP2C1 mutations. About 180 distinct mutations have been identi...
S-EPMC7148260 | biostudies-literature
UnknownAlterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases-Review Article.
The skin is a flexible organ that forms a barrier between the environment and the body's interior; it is involved in the immune response, in protection and regulation, and is a dynamic environment in which skin lipids play an important role in maintaining homeostasis. The different layers of the ski...
S-EPMC8420999 | biostudies-literature
UnknownGenetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.
Chronic pancreatitis (CP) is a progressive, irreversible inflammatory disorder of the pancreas, which results from interrelations between different genetic and environmental factors. Genetic variants are the primary cause of the disease in early-onset nonalcoholic CP patients. Novel CP-associated ge...
S-EPMC8160726 | biostudies-literature
UnknownStructural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.

Background

Skin lesions on the feet and foot deformities impair daily activities and decrease quality of life. Although substantial foot deformities occur in many genodermatoses, few reports have been published on this topic. Therefore, we performed a retrospective chart review to identify p...
S-EPMC8848968 | biostudies-literature
UnknownChronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child-case report.
Chronic pancreatitis (CP) is a rare disease in children. We describe the first case of a 3-year-old Caucasian patient with CP with the presence of a homozygous pathogenic variant c.194 + 2T > C in serine protease inhibitor, Kazal type 1 ( SPINK1 ) and pancreas divisum.
S-EPMC9385255 | biostudies-literature
UnknownPhenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.
Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical...
S-EPMC4543413 | biostudies-literature
UnknownThe genetic basis of classical galactosaemia in Polish patients.
Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established by detecting elevated erythrocyte galactose-1...
S-EPMC8142503 | biostudies-literature
UnknownIs c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome.
Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutat...
S-EPMC5343335 | biostudies-literature
UnknownThe Depressiveness, Quality of Life and NEO-FFI Scale in Patients with Selected Genodermatoses.
Background: Dermatological conditions extend beyond physical symptoms, profoundly impacting the psychological well-being of patients. This study explores the intricate relationship between depressive symptoms, quality of life (QoL), and personality traits in individuals diagnosed with specifi...
S-EPMC10971189 | biostudies-literature
UnknownThe novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic dysfunction. It is due to mutations in the gene coding for the AADC enzyme responsible for the synthesis of dopam...
S-EPMC9121088 | biostudies-literature
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