Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformations, autosomal recessive inheritance se...

A case of unrecognized widespread dermatophyte infection associated with ichthyosis vulgaris and atopy is described. Our patient was a young woman in which the diagnosis of ichthyosis vulgaris and atopic dermatitis blocked the recognition of widespread dermatophyte infection for more than six months. The case showed some clinical peculiarities in terms of both extent of lesions and their clinic...

Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. The youngest brother had in addition a bila...

INTRODUCTION Placental sulphatase deficiency/congenital ichthyosis is an X-linked inborn error of metabolism which was first described in 1969 by France and Liggins.1 It is an enzymatic defect affecting steroid metabolism, clinically manifested by diminished oestrogen production during fetal life and by congenital ichthyosis post-natally. This disorder has a reported incidence of between 1: 6,0...

Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease. In 2009, the First Ichthyosis Consensus Conference was held to establish a consensus for the nomenclature and classification of inherited ichthyoses, by which an international consensus for the classif...

BACKGROUND Several forms of ichthyosis are associated with neurologic manifestations, including Sjögren-Larsson syndrome, Refsum disease, and mental retardation-enteropathy-deafness-neuropathy-ichthyosis-keratoderma (MEDNIK) syndrome. We report a case of X-linked steroid sulfatase deficiency, ichthyosis, seizures, abnormal hair banding pattern, and unilateral polymicrogyria. OBSERVATIONS A 3-...

To the Editor: Netherton syndrome (NS) is a rare autosomal recessive ichthyosis due to loss-of-function mutations in SPINK5 encoding LEKTI.1Chavanas S. Bodemer C. Rochat A. et al.Mutations SPINK5, serine protease inhibitor, cause syndrome.Nat Genet. 2000; 25: 141-142Crossref PubMed Scopus (659) Google Scholar Patients with NS typically present linearis circumflexa (NS-ILC) or scaly erythroderma...

Pod sucking pest, Riptortus linearis, is one of the important pests on soybeans which cause high yield losses. This study aimed to determine relationship between soybean pod morphological characteristics with population and attacking intensity pest R. linearis. The research method used was descriptive exploratory in field five varieties, namely: Detap-1 (V1), Dega-1 (V2), Anjasmoro (V3), Biosoy...