THE word ichthyosis is derived from the Greek word Ichthys meaning a fish. Patients with ichthyosis exhibit prominent scales occurring more or less diffusely all over the body. Usually the scales are large and centrally adherent with loose edges. Ichthyosis is a disorder of keratinization. Ichthyosis forms a group of genodermatoses transmitted by autosomal dominant or, as recently shown by Well...

Moderate to severe ichthyosis is known to have a significant impact on quality of life. A French national survey was performed to describe in more detail how ichthyosis impacts the patients' lives. A questionnaire specifically dedicated to ichthyosis was distributed to patients followed in hospital expert centres or members of the French association of patients. A total of 241 questionnaires we...

Ichthyosis are a heterogeneous group of Hereditary and acquired disorders keratinization characterized by the presence visible scales on skin surface. The word is derived from Greek root for fish – icthys. There two major types ichthyosis that Congenital Acquired. vulgaris one among congenital most common with an estimated incidence rate 1 in 250 births, onset early childhood fine, whitish whic...

Introduction Mutations in the filaggrin ( FLG) gene are known to cause ichthyosis vulgaris. Methods We used whole-genome sequencing (WGS) technology investigate genetic causes of rare and complex inherited diseases including rheumatoid arthritis, ichthyosis, congenital fibrosis extraocular muscles type 1 (CFEOM1) a Chinese family. WGS was performed four topics, identified candidate mutations we...

Inherited ichthyoses are rare disorders in terms of patient numbers, but abundant in terms of clinical-genetic subtypes. These disorders are often associated with severe systemic manifestations, in addition to significant medical, cosmetic and social problems. There are 17 subtypes of syndromic ichthyosis identified so far and most patients with these syndromes are living in countries with high...

Ichthyosis uteri is a rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. Though the condition often is considered as benign, anaplastic and dysplastic changes have been reported. We describe herein a rare case of low-grade squamous cell carcinoma of endometrium associated with extensive ichthyosis uteri with dysplasia. The cervix showed ...

A Danish-Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis. Patients were recruited from 5 dermatology departments in Denmark, and data were obtained using a structured questionnaire and a systematic examination together with photographs, histopathological descriptions and blood sa...

DEAR EDITOR, Loricrin keratoderma (syn. Camisa syndrome, OMIM 604117) is a rare autosomal dominant genodermatosis characterized by palmoplantar keratoderma and ichthyosis. It is caused by mutations in loricrin, a small basic protein synthesized in the upper granular layer, which becomes a major constituent of the cornified cell envelope. Seven distinct mutations in loricrin have been reported i...