A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes.

The phenotypic spectrum of genodermatoses is continuously expanding. Three siblings were referred because of a highly unusual phenotype comprising alopecia, dystrophic nails, palmoplantar keratoderma and trauma-induced skin blistering. Whole-exome sequencing analysis identified a heterozygous large genomic alteration of around 116 0000 bp resulting in the deletion of the KRT9, KRT14, KRT15, KRT16 and KRT19 genes, as well as part of KRT17.

Fixed prosthetic rehabilitation of a patient with Papillon-Lefevre syndrome supported by a Quad Zygoma Approach: A clinical report.

Papillon-Lefevere syndrome (PLS) is a rare disorder with severe oral manifestations resulting in premature tooth loss at an early stage of life. As a result, extensive bone resorption pattern in the maxilla negates conventional implant treatment in the majority of cases. This clinical report describes a prosthetic rehabilitation revision of a 26-year-old female diagnosed with PLS using an implant supported fixed complete denture with a quad zygoma approach.

Two Sisters with Mal de Meleda: Case Series Report.

Mal de Meleda (MDM) is a rare autosomal recessive type of palmoplantar keratoderma that is characterized by transgradient keratoderma with scleroatrophy, pseudoainhum around the fingers, and perioral erythema. Its features may also include lichenoid lesions, brachydactyly, and nail dystrophy. The disease has high morbidity and significantly impairs quality of life.

Paraneoplastic Pityriasis Rubra Pilaris Preceding Leukemia.

Pityriasis rubra pilaris (PRP) is a rare, chronic papulosquamous disorder that presents with scaling plaques, palmoplantar keratoderma, and keratotic follicular papules. Typically, there are distinctive unaffected areas referred to as "islands of sparing." Pityriasis rubra pilaris has been associated with various immunodeficient states and malignancies.

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS/CISS is mainly associated with CRLF1 and, rarely, CLCF1. PERCHING syndrome, previously known as CS/CISS type-3 associated with biallelic pathogenic variants in KLHL7, is notable for its few overlapping manifestations.

Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10.

Human epithelial keratin is an intermediate filament protein that serves as a backbone to maintain the stability of the cell nucleus and mechanical stability of the whole cells. The present study focused on two point mutations, F231L and S233L, of the 1B domain of keratin K 1/10 related to the rare genetic skin disease palmoplantar keratoderma (PPK). We used molecular dynamics simulation to study the effects of the mutations on various hierarchical structures, including heterodimers, tetramers, and octamers of the K1/10 1B domain at the atomic scale.

A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.

A new de novo heterozygous mutation in the desmoplakin gene, causing Naxos and Carvajal disease, has been reported in a 13-year-old Caucasian girl, with expanded clinical phenotype. In addition to woolly hair, palmoplantar keratoderma and cardiomyopathy, she had oligodontia and nail fragility. These additional clinical features may help in the diagnosis of Naxos and Carvajal disease, known to be severe on the cardiac level.