The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathi...

Netherton syndrome (NS) is a severe genetic skin disease in which absence of a key protease inhibitor causes congenital exfoliative erythroderma, eczematous-like lesions, and atopic manifestations. Several proteases are overactive in NS, including kallikrein-related peptidase (KLK) 5, KLK7, and elastase-2 (ELA2), which are suggested to be part of a proteolytic cascade initiated by KLK5. To addr...

Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity i...

Tissue kallikreins (KLKs), in particular KLK5, 7 and 14 are the major serine proteases in the skin responsible for skin shedding and activation of inflammatory cell signaling. In the normal skin, their activities are controlled by an endogenous protein protease inhibitor encoded by the SPINK5 gene. Loss-of-function mutations in SPINK5 leads to enhanced skin kallikrein activities and cause the s...

Introduction. The degenerative changes of myocardial tissue are thought to influence left atrial (LA) function. Changes of left atrial function are generally due to changes in left ventricle (LV) compliance. But valvular dysfunction and hypertension as comorbidity cannot be ignored. Women have a different clinical profile compared with men concerning the risk of heart failure. We investigated t...

OBJECTIVE To determine the frequency of the various underlying causes of erythroderma in newborns or infants, as well as which clinical or laboratory findings were relevant for the etiological diagnosis. PATIENTS Fifty-one patients who presented with exfoliative erythroderma during their first year of life were included in this retrospective study. SETTING Department of Pediatric Dermatolog...

A dermoscopy of linear unilateral syringoma has never been described in the English literature. The authors report the case to elucidate the dermoscopic features of syringoma. Clinical, dermoscopic and pathological features of a 38-year-old Japanese female case of linear unilateral syringoma on the left upper arm were described and compared with those of lichen planus linearis. Although the cli...

Harlequin ichthyosis is a rare and exceedingly severe form of congenital ichthyosis with an incidence of approximately 1 in 300,000 births. These patients are at a high risk for neonatalinfection and septicemia. Most affected infants die within the  first days or weeks of life.We report a male baby born with harlequin ichthyosis. There is limited information regarding the course and...

The Medicare Secondary Payer Act of 1980 and its subsequent amendments require that insurers and self-insured companies report settlements, awards, and judgments that involve a Medicare beneficiary to the Centers for Medicare and Medicaid Services. The parties then may be required to compensate CMS for its conditional payments. In a simple settlement model, this makes settlement less likely. Al...

Ichthyosis is a heterogeneous cluster of keratinization disorders. Autosomal dominant ichthyosis vulgaris, the most common type, has an estimated incidence of 1 in 250 births, and X-linked recessive ichthyosis, the second most common form, has an incidence of 1 in 6000 male births. In addition, there are approximately 6.7 in 100,000 cases of moderate-to-severe ichthyosis. Congenital ichthyoses ...