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Lamellar Ichthyosis (Harlequin Ichthyosis)

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A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.

Also Known As:

Harlequin Ichthyosis; Harlequin Fetus; Ichthyosis, Lamellar; Congenital Ichthyosiform Erythroderma, Nonbullous; Congenital Nonbullous Ichthyosiform Erythroderma; Nonbullous Congenital Ichthyosiform Erythroderma; Nonbullous Congenital Lamellar Ichthyosis; Erythroderma Ichthyosiformes, Nonbullous; Fetus, Harlequin; Harlequin Ichthyoses; Ichthyoses, Harlequin; Ichthyoses, Lamellar; Ichthyosiforme, Nonbullous Erythroderma; Ichthyosiformes, Nonbullous Erythroderma; Ichthyosis, Harlequin; Lamellar Ichthyoses; Nonbullous Erythroderma Ichthyosiforme; Nonbullous Erythroderma Ichthyosiformes; Erythroderma Ichthyosiforme, Nonbullous; Ichthyosiform Erythroderma, Nonbullous Congenital

Networked: 210 relevant articles (12 outcomes, 13 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Ichthyosis (Xeroderma)
2.	Darier Disease (Darier's Disease)
3.	Ectropion
4.	Skin Diseases
5.	Tangier Disease

Experts

1.	Akiyama, Masashi: 11 articles (08/2015 - 01/2007)
2.	Shimizu, Hiroshi: 8 articles (11/2011 - 01/2007)
3.	Traupe, H: 5 articles (01/2014 - 12/2000)
4.	Sakai, Kaori: 5 articles (04/2010 - 01/2007)
5.	Uchida, Yoshikazu: 4 articles (02/2010 - 04/2004)
6.	Elias, Peter M: 4 articles (04/2008 - 04/2004)
7.	Hitomi, Kiyotaka: 3 articles (06/2015 - 04/2010)
8.	Schmuth, Matthias: 3 articles (01/2013 - 04/2004)
9.	Melino, G: 3 articles (01/2012 - 08/2001)
10.	Yanagi, Teruki: 3 articles (04/2010 - 04/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lamellar Ichthyosis:

1.	Acetylcysteine (Siran)FDA LinkGeneric 05/01/2014 - "Topical N-acetylcysteine is gaining recognition as a useful and safe therapy for lamellar ichthyosis. " 05/01/2014 - "Topical N-acetylcysteine for the treatment of lamellar ichthyosis: an improved formula." 07/01/2011 - "We reported the efficacy of topical cutaneous N-acetylcysteine in children with type I lamellar ichthyosis. " 05/01/2014 - "We report a case of inherited lamellar ichthyosis that showed a good response to treatment with a new formula of N-acetylcysteine cream. " 11/27/1999 - "We report a patient with lamellar ichthyosis satisfactorily treated with topical N-acetylcysteine."
2.	Bullous erythroderma ichthyosiformis congenita of BrocqIBA 03/01/1987 - "We report the first positive prenatal diagnosis of congenital non-bullous ichthyosiform erythroderma or lamellar ichthyosis. " 03/01/1987 - "Prenatal diagnosis of congenital non-bullous ichthyosiform erythroderma (lamellar ichthyosis)." 07/01/1994 - "Patients with non-erythrodermic lamellar ichthyosis showed a marked decrease in levels of the important acylceramide, ceramide 1, whereas those with other types of autosomal recessive ichthyosis (limited lamellar ichthyosis and non-bullous ichthyosiform erythroderma) had mean levels similar to the controls. " 11/01/2008 - "The other forms of ichthyosis were rarely observed : 4 cases of X-linked recessive ichthyosis, 2 cases of lamellar ichthyosis and 2 cases of bullous ichthyosiform erythroderma. " 03/01/2006 - "These severe forms of PHI (Nonbullous Ichthyosiform Erythroderma, Bullous Ichthyosiform Erythroderma and Lamellar Ichthyosis) together constituted nearly 40% of all cases."
3.	RetinoidsIBA 08/01/2008 - "Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis." 09/01/2014 - "Harlequin ichthyosis has often been considered to be fatal, and management tends to be palliative, but follow-up of 45 affected infants has shown that with good neonatal care and early introduction of oral retinoids, survival rates are improving. " 03/01/2014 - "A case of harlequin ichthyosis with compound heterozygous mutations in ABCA12 was successfully managed with intensive neonatal care and endotracheal intubation and without oral retinoids. " 09/01/1989 - "We conclude that in the very severe forms of congenital lamellar ichthyosis, oral retinoids may fail to produce any beneficial effects." 12/01/1983 - "The mechanism of action of retinoids in lamellar ichthyosis is discussed."
4.	Acitretin FDA Link 02/01/1994 - "The aim of the present study was to provide further information on acitretin dosage regimens in the management of lamellar ichthyosis. " 07/01/2001 - "Successful treatment of harlequin ichthyosis with acitretin." 02/01/1994 - "The dichotomy with respect to the response to acitretin suggests that lamellar ichthyosis is a spectrum of at least two conditions." 02/01/1994 - "Acitretin in the treatment of lamellar ichthyosis." 01/01/1988 - "[Harlequin fetus treated with etretin (RO 10-1670)]."
5.	liarozoleIBA 01/01/2014 - "However, once-daily oral liarozole, 75 and 150 mg, improved scaling and DLQI and was well tolerated in patients with moderate/severe lamellar ichthyosis." 01/01/2014 - "Oral liarozole in the treatment of patients with moderate/severe lamellar ichthyosis: results of a randomized, double-blind, multinational, placebo-controlled phase II/III trial." 01/01/2014 - "To demonstrate the efficacy and safety of once-daily oral liarozole in the treatment of moderate/severe lamellar ichthyosis. " 01/01/2009 - "The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis by mildly affecting the expression of retinoid- regulated genes in epidermis." 01/01/2009 - "Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole."
6.	Etretinate FDA Link 09/01/1992 - "Harlequin fetus treated with etretinate." 09/01/1989 - "Failure of etretinate therapy in twins with severe congenital lamellar ichthyosis." 05/01/1985 - "A harlequin fetus seen at birth was treated with etretinate and more general measures, including careful attention to fluid balance, calorie intake and temperature control. " 05/01/1985 - "Harlequin fetus successfully treated with etretinate." 12/01/1983 - "New observations on the fine structure of lamellar ichthyosis and the effect of treatment with etretinate."
7.	Tretinoin (Retinoic Acid)FDA LinkGeneric 11/01/1970 - "Lamellar ichthyosis--response to retinoic acid (tretinoin). " 04/01/1980 - "A new synthetic oral retinoid, 13-cis retinoic acid, is fairly well tolerated in patients and appears to be effective in those with Darier's disease and lamellar ichthyosis. " 04/01/1980 - "Evaluation of 13-cis retinoic acid in lamellar ichthyosis, pityriasis rubra pilaris and Darier's disease." 01/01/2014 - "Oral liarozole, a retinoic acid metabolism-blocking agent, may be an alternative to systemic retinoid therapy in patients with lamellar ichthyosis. " 01/01/2009 - "Patients with lamellar ichthyosis or ichthyosiform erythroderma in particular profit from oral therapy with retinoids or retinoic acid metabolism-blocking agents."
8.	EmollientsIBA 12/01/1997 - "Lamellar ichthyosis is markedly improved by a novel combination of emollients." 12/01/1999 - "Lamellar ichthyosis (LI) is characterized by generalized scaling of the skin and is often resistant to ordinary emollients. " 09/01/1989 - "We report the prolonged survival of a harlequin fetus who was treated with intensive supportive measures, emollients, and oral etretinate." 05/01/2006 - "We report a young girl with lamellar ichthyosis and symptoms of poisoning, with clinical signs of irritability, agitation, myoclonia, and difficulty in walking, accompanied by lactic acidosis as a result of the more frequent than recommended application of emollients containing lactic acid. "
9.	autosomal dominant form Lamellar ichthyosisIBA 01/01/1985 - "Recently, autosomal-dominant lamellar ichthyosis (ADLI) has been shown to be a new genetic trait with clinical and histologic features similar to those of autosomal-recessive lamellar ichthyosis. " 01/01/1987 - "In the group of ichthyoses, the best results can be obtained in the various types of nonbullous congenital ichthyosis (erythrodermic autosomal recessive lamellar ichthyosis, nonerythrodermic autosomal recessive lamellar ichthyosis, autosomal dominant lamellar ichthyosis). " 02/01/1988 - "We therefore studied the cytokeratin expression of the following types of ichthyosis: autosomal dominant ichthyosis vulgaris (n = 4), X-linked recessive ichthyosis vulgaris (n = 4), recessive non-bullous congenital ichthyosiform erythroderma (n = 1), recessive classical lamellar ichthyosis (n = 2), autosomal dominant lamellar ichthyosis (n = 1), and Netherton syndrome (n = 1). "
10.	tazarotene (Tazorac)FDA Link 07/01/2003 - "The efficacy of tazarotene 0.1% gel in a 30-year-old woman with type I lamellar ichthyosis is reported. " 07/01/2003 - "Type I lamellar ichthyosis improved by tazarotene 0.1% gel." 11/01/2006 - "Lamellar ichthyosis treated with tazarotene 0.1% gel." 05/01/1998 - "Topical application of tazarotene in the treatment of nonerythrodermic lamellar ichthyosis."

Therapies and Procedures

1.	Transplants (Transplant) 11/01/1976 - "Lamellar ichthyosis: long-term graft studies on congenitally athymic nude mice." 08/01/2009 - "To our knowledge, this is the youngest reported case and the only case of harlequin ichthyosis in which postauricular skin grafts were used." 07/01/1997 - "Skin grafts from harlequin ichthyosis mice grafted onto immunodeficient nude mice maintained the phenotype for the 10-week observation period. " 01/01/1980 - "Recombinant grafts composed of normal and lamellar ichthyosis epidermis and dermis further localize the defect to lamellar ichthyosis epidermis. " 11/01/1976 - "In recombinant grafts of normal epidermis and lamellar ichthyosis dermis, the epidermis remained normal and did not become ichthyotic. "
2.	Intensive Care (Surgical Intensive Care) 01/01/2009 - "We report a case of a newborn with harlequin ichthyosis, born to unrelated parents, who had a favorable evolution with topical treatment and intensive care." 01/01/1996 - "In countries with adequate intensive care facilities (hydration, acitretine), such infants may occasionally survive with the risk of developing major lamellar ichthyosis which remains a handicap for the rest of life. "
3.	Hip Replacement Arthroplasty (Total Hip Replacement) 07/01/2011 - "Total hip replacement in an adolescent patient with harlequin ichthyosis; a case report."
4.	Nursing Care 09/01/2002 - "Harlequin ichthyosis, a congenital skin condition, poses challenges to nursing care, which include preventing infection, feeding, and enhancing attachment. "
5.	Obstetrical Anesthesia 01/15/2015 - "Obstetric anesthesia for harlequin ichthyosis: a unique challenge."