Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis ...

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by nail dystrophy and painful palmoplantar keratoderma. Additional clinical features include oral leukokeratosis, follicular keratosis, and cysts (steatocysts and pilosebaceous cysts). PC is due to heterozygous mutations in one of four keratin genes, namely, KRT6A, KRT6B, KRT16, or KRT17. Here, we...

F-344 rats fed diets containing phenethyl isothiocyanate (PEITC; 3 and 6 mumol/g diet), a naturally occurring constituent of cruciferous vegetables, before and during treatment with the carcinogen N-nitrosobenzylmethylamine (NBMA), developed 99-100% fewer esophageal tumors than NBMA-treated control rats. PEITC exhibited inhibitory effects against both preneoplastic lesions (acanthosis and hyper...

Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17. The main clinical features of the condition include painful and highly debilitating plantar keratoderma, hypertrophic nail dystrophy, oral leukokeratosis, and a variety of epidermal cysts. Although the ...

BACKGROUND White sponge nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling. METHODS Sequence analysis of samples from a WSN Chinese family revealed a mutation (332 T > C) in the KRT13 gene that ...

Adresa za dopisivanje Pornpan Piboonratanakit Department of Oral Medicine Faculty of Dentistry, Chulalongkorn University Bangkok 10330, Thailand tel : +6622188942 fax : +6622188941 [email protected] Sažetak Bijeli spužvasti nevus ili madež (WSN) rijedak je dobroćudni autosomno dominantni poremećaj obično poput mekane, bijele, spužvaste naslage na mukoznoj membrani, najčešće oralnoj. Pojavlj...

Barium titanate (BaTiO3, BTO) ferroelectrics are polar material that exhibits net spontaneous polarization without external applied field [1,2]. The polarization can be reoriented by applying the electric field. BTO with perovskite structure is widely used due to their ferroelectric, pyroelectric and piezoelectric properties in various electronic applications such as multi-layer ceramic capacit...

INTRODUCTION White Sponge Nevus (WSN) is a rare pathology with a pathogenesis on genetic basis, a benign course and a localization affecting the mucosal keratin.WSN is usually a symptomless pathology: when pain is present, some authors reported reduction of symptoms by taking penicillin or oral tetracycline rinses, suggesting that a bacterial overinfection could be at the base of possible painf...

Abstract Hereditary palmoplantar keratoderma (PPK) has many forms, and genetic testing can help distinguish diagnoses. This case demonstrates a presentation of PPK with an altered phenotype caused by mutation in FLG. The patient was 23-year-old woman referred since the age 6 years. She reported dry skin on back her hands from infancy no other dermatological conditions. denied plantar pain excep...

In his landmark Physiological Reviews article of 1929 Walter Cannon defined homeostasis as the coordinated physiological mechanisms that maintain the physical and chemical properties of the internal environment, i.e. the extracellular fluid that surrounds all cells in the body. This in turn was based on the principle, first enunciated by Claude Bernard, that the constancy of the internal enviro...