Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries. Here, we report a 20-year-old patient with ...

Summary Inherited ichthyoses are a group of genodermatoses classified as either nonsyndromic or syndromic. Nonsyndromic and keratitis, ichthyosis deafness (KID) syndrome predispose to fungal infection. The diagnosis treatment infections underlying challenging. In this review, we summarize reported cases with infection over the past 50 years. Atypical manifestations such alopecia, papules brittl...

Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwi...

IMPORTANCE Ectropion is a complication of certain subtypes of ichthyosis and is often associated with substantial medical and cosmetic consequences. At present there is no standard of care for the treatment of ectropion in this population. Retinoids cause dyshesion and thinning of stratum corneum, thereby reducing hyperkeratosis that likely underlies ectropion in patients with ichthyosis. As su...

INTRODUCTION Lamellar Ichthyosis is an autosomal recessive, inherited skin disorder characterized by thickening, fissuring and scaling of the skin. OBJECTIVE To report a case of lamellar icthyosis and highlight the importance of monitoring corneal health in these patients. CASE We report a rare case of bilateral spontaneous corneal perforation in a patient with lamellar ichthyosis .The pati...

BACKGROUND Few studies have investigated ear involvement in nonsyndromic autosomal recessive congenital ichthyosis (ARCI). OBJECTIVES To assess the type and frequency of otologic manifestations of ARCI in patients under follow-up at the pediatric dermatology department of our hospital. MATERIALS AND METHODS We prospectively studied the presence of ear pain, ear itching, tinnitus, otitis, ce...

Heiko Traupe, Universitäts-Hautklinik, Von-Esmarch-Strasse 56, D–4400 Münster (FRG); Rudolf Happle, Department of Dermatology, University of Nijmegen, Javastraat 104, NL-6524 Nijmegen (The Netherlands) Sir, The data of Unamuno et al. [8] on the high incidence of cryptorchidism in X-linked recessive ichthyosis are of considerable interest, in particular to those concerned with pediatric dermatol...

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...