Ichthyosis (ikTHeosis) uterus is a rare benign metaplastic transformation of uterine endometrium into stratified squamous epithelium. The word ichthyosis (plural ichthyoses) comes from two ancient Greek (ixtus), meaning fish and disease. epithelium parakeratotic with absent granular layer. Premalignant potential this has not been established due to the rarity occurrence. We report case 72 year ...

A utosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of inherited disorders of keratinisation, with an estimated incidence of one per 200 000 newborns. In Scandinavia, the prevalence is closer to one in 50 000. 3 By electron microscopy, ARCI can be classified into four subgroups—ichthyosis congenita I–IV—and one so far undefined group. Six loci h...

Lipids are the primary components of the skin permeability barrier, which is the body's most powerful defensive mechanism against pathogens. Acylceramide (ω-O-acylceramide) is a specialized lipid essential for skin barrier formation. Here, we identify PNPLA1 as the long-sought gene involved in the final step of acylceramide synthesis, esterification of ω-hydroxyceramide with linoleic acid, by c...

We report the case of a congenitally deaf white male with mild palmoplantar keratoderma, ichthyosiform scaling, follicular hyperkeratosis, and mild keratitis, features consistent with keratitis-ichthyosis-deafness syndrome. His major problem was severe, disfiguring, inflammatory dissecting folliculitis of the scalp, hidradenitis suppurativa, and cystic acne, features comprising the follicular o...

Aim—To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. Methods—The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. Results—All patients had the typical pattern of arthrogryposis. Renal Fanconi syndrome was present in all but o...

Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contracture...

The ichthyoses comprise a group of keratinisation disorders characterised by generalised scaling of the skin. Lamellar ichthyosis (LI) is usually manifested at birth as a collodion baby with ectropion/eclabion. Collodion membrane means encased in a tight shiny covering. It is characterised afterwards by non-bullous scaling of the whole integument with variable erythroderma. LI is a major subtyp...

Mutations in patatin-like phospholipase domain-containing 1 (PNPLA1) cause autosomal recessive congenital ichthyosis, but the mechanism involved remains unclear. Here we show that PNPLA1, an enzyme expressed in differentiated keratinocytes, plays a crucial role in the biosynthesis of ω-O-acylceramide, a lipid component essential for skin barrier. Global or keratinocyte-specific Pnpla1-deficient...

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome (MIM No. 208085) is a rare multisystem disorder involving the liver, kidney, skin, and central nervous and musculoskeletal systems. The syndrome is an autosomal-recessive trait, associated with germ-line mutations in the VPS33B gene. We report an Iranian boy of consanguineous cousin parents who had congenital deformities of the upper...

1. Hernández-Martín A, Garcia-Doval I, Aranegui B, de Unamuno P, Rodríguez-Pazos L, González-Enseñat MA, et al. Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain. J Am Acad Dermatol. 2012;67:240--4. 2. Hernández-Martin A, de Lucas R, Vicente A, Baselga E, Morcillo-Makow E, Arroyo Manzanal MI. Reference centers for epide...