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...

Nutritional rickets has occasionally been described in children with lamellar ichthyosis, but their vitamin D endocrine status has not been described. We report 3 cases of vitamin D-deficiency rickets associated with ichthyosis in African children. A 13-month-old Nigerian boy with lamellar ichthyosis had rib beading, elevated alkaline phosphatase, and rachitic changes on radiographs. His ricket...

Keratinization disorders Epidermolytic hyperkeratosis KRT1, KRT10 12 Epidermolytic PPK KRT9 12 Non-epidermolytic PPK KRT16 12 Vohwinkel’s syndrome LOR 31 Ichthyosis bullosa Siemens KRT2e 64 Pachonychia congenita type 1/2 KRT6a, 16, 17 64 X-linked ichthyosis STS 7 Lamellar ichthyosis TGM1 31 Palmoplantar keratoderma GJB2 61 with deafness Erythrokeratodermia variabilis GJB3 60 Darier’s disease AT...

Ichthyoses constitute a large group of cornification disorders that affect the entire integument. The skin is characterized by visible scaling and in many cases by inflammation, for example, in bullous/keratinopathic ichthyosis or Netherton syndrome. From the viewpoint of classification it is useful to distinguish non-syndromic from syndromic types of ichthyosis. Ichthyosis vulgaris and recessi...

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 ...

Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB tha...

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...