Lamellar ichthyosis and congenital ichthyosiform erythroderma. Phenotypic spectrum of autosomal recessive congenital ichthyosis. Ichthyosis, congenital, autosomal recessive 5 arci5. Bathing suit ichthyosis bsi is a rare variant of autosomal recessive congenital ichthyosis arci due to transglutaminase1 gene tgm1 mutations leading to a. In 2 families with autosomal recessive congenital ichthyosis, one german and the other turkish, krebsova et al. Pnpla1 is one of the 12 related genes identified so far. The term autosomal recessive congenital ichthyosis arci refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis.
Autosomal recessive congenital ichthyosis arci is a group of rare nonsyndrome diseases that affect cornification. Autosomal recessive congenital ichthyosis 5 from uniprot. What is autosomal recessive congenital ichthyosis arci lamellar ichthyosis type. Bathing suit variant of autosomal recessive congenital ichthyosis. Cie and li are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body.
Most cases approximately 75% of collodion baby will go on to develop a type of autosomal recessive congenital ichthyosis either lamellar ichthyosis or congenital ichthyosiform erythrodema. Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Request pdf autosomal recessive congenital ichthyosis although most neonates with autosomal recessive congenital ichthyosis arci are collodion. Autosomal recessive congenital ichthyosis due to pnpla1. Autosomal recessive congenital ichthyosis sciencedirect. Topical kb105 gene therapy for the treatment of tgm1deficient autosomal recessive congenital ichthyosis arci the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Autosomal recessive nonsyndromic congenital ichthyosis arci most neonates with arci present as collodion babies with a taut translucent membrane encasing the entire body that lasts for up to two weeks. Transglutaminase 1 is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and helps form a protective barrier between the body and its environment.
Article mutations in sult2b1 cause autosomal recessive congenital ichthyosis in humans lisa heinz, 1,2 gwangjin kim, 3 slaheddine marrakchi,4 julie christiansen,5 hamida turki,4 marcalexander rauschendorf, 1mark lathrop,6 ingrid hausser,7 andreas d. Arci is a heterogeneous group of disorders of keratinization characterized mainly by abnormal skin scaling over the whole body. We used a spontaneous dog model in the golden retriever breed, which is affected by a lamellar ichthyosis resembling human autosomal recessive congenital ichthyoses arci, to carry out a. Mutations in nine genes are known to cause nonsyndromic forms of autosomal recessive congenital ichthyosis arci. Impaired epidermal ceramide synthesis causes autosomal. Although most neonates with arci are collodion babies, the clinical presentation and severity of arci may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis li and nonbullous congenital ichthyosiform. For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see arci1. Autosomal recessive congenital ichthyosis, or arci, is a lifelong, severe genetic skin disease. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. In most cases, the baby develops an ichthyosis or ichthyosis like condition or other rare skin disorder.
Autosomal recessive congenital ichthyosis arci is a heterogeneous group of rare cornification diseases. Nipal4, encoding the nipalike domain containing 4 protein nipal4, is one of the causative genes of autosomal recessive congenital ichthyosis arci. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. Abca12 mutations and autosomal recessive congenital. Our lab has been studying yet another kind of ichthyosis. Reduced stratum corneum acylceramides in autosomal. Autosomal recessive congenital ichthyosis arci and ichthyosis syndrome is are rare genetic skin disorders. Incidence of the disease is nearly 1 in 3,00,000 live births. Prevalence of autosomal recessive congenital ichthyosis. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to pnpla1 mutation.
The tgm1 gene provides instructions for making an enzyme called transglutaminase 1. Lamellar ichthyosis is a condition that mainly affects the skin. Topical kb105 gene therapy for the treatment of tgm1. Germline mutations in tgm1 are the most common cause of arci in the united states. Although the clinical presentation, histopathological findings and genetic cause of autosomal recessive congenital ichthyosis arci in golden retriever dogs have been well investigated, the optimal management of this disease remains uncharacterized. Autosomal recessive congenital ichthyosis arci is a heterogeneous group of rare, severe disorders with an approximate prevalence of 1. About 220 95% confidence interval, 180260 patients received treatment in japan in 20052009 for these disorders. Autosomal recessive congenital ichthyosis arci, is a rare and heterogeneous group of epidermal keratinization disorders 1. Autosomal recessive congenital ichthyosis arci represents a heterogeneous group of rare disorders of cornification with 3 major subtypes. Autosomal recessive congenital ichthyosis congenital ichthyosiform erythroderma cie type. Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which the genetic causes of several human forms remain unknown. Although most neonates with arci are collodion babies, the clinical presentation and severity of arci may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis li and nonbullous congenital ichthyosiform erythroderma cie.
This group was traditionally divided into lamellar ichthyosis li and congenital ichthyosiform erythroderma cie but today it also includes harlequin ichthyosis, selfhealing collodion baby, acral selfhealing collodion baby, and. Autosomal recessive congenital ichthyosis and ichthyosis syndrome are rare genetic skin disorders. Arci is a heterogeneous group of disorders of keratinization characterized mainly by abnormal skin. Although most neonates with arci are collodion babies, the clinical presentation and severity of arci may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar. Pnpla1 mutations cause autosomal recessive congenital. Autosomal recessive congenital ichthyoses arci comprise a. Although the severity of symptoms may vary within the subtypes. The physiological role of nipal4 and the pathogenetic mechanisms of arci caused by nipal4 mutations remain unclear. Lamellar ichthyosis type 2 li2 is a rare autosomal recessive skin disorder for which a gene.
Mutations in sult2b1 cause autosomalrecessive congenital. Cie and li are clinically characterized by fine, whitish scales on. Mutations in abca12 have been described in autosomal recessive congenital ichthyoses arci including harlequin ichthyosis hi, congenital ichthyosiform erythroderma cie, and lamellar ichthyosis li. Ichthyosis can also be due to a new spontaneous mutation. We used a spontaneous dog model in the golden retriever breed. Arci12 in a consanguineous algerian family in which 2 sisters had mild congenital ichthyosis, kirchmeier et al. Autosomal recessive congenital ichthyosis arci is a recently adopted term referring to a heterogeneous group of disorders that share an autosomal recessive pattern of inheritance, collodion membrane presentation at birth and overlap in causative gene mutations. Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Autosomal recessive congenital ichthyosis and its genes. The term ichthyosis refers to a variety of different scaling disorders, ranging from the relatively common ichthyosis vulgaris iv to recessive xlinked ichthyosis rxli and epidermolytic ichthyosis formerly called ehk.
A populationbased study using the capturerecapture method in spain. Extensive genealogic studies showed that the parents of the affected german. Autosomal recessive congenital ichthyosis 4b conditions. Listing a study does not mean it has been evaluated by the u. Results of a nationwide epidemiologic survey of autosomal. Autosomal recessive congenital ichthyosis actas dermo. For further information on genes listed in table 1b click here pdf. Autosomalrecessive congenital ichthyosis arci is a clinically and genetically heterogeneous group of severe hereditary keratinization disorders characterized by intense scaling of the whole.
A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. Pdf recent progress in the genetics of autosomal recessive congenital ichthyosis arci has illustrated the power of genetic strategies for the. While a number of genetic mutations have been associated with the development of arci, the most common cause of arci is an inactivating mutation in the tgm1 gene encoding the enzyme transglutaminase1, a protein that is essential for the proper formation of the skin barrier. Tgm1 encodes for the tgase1 enzyme that functions in the. Autosomal recessive congenital ichthyosis arci encompasses several. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. As mentioned previously, the most common forms of ichthyosis are ichthyosis vulgaris and xlinked recessive ichthyosis, which are inherited in autosomal pseudo dominant and xlinked recessive patterns, respectively, via wellcharacterized genetic mutations. However, not all genetic causes for arci have been discovered to date. Pdf autosomal recessive congenital ichthyosis researchgate. Mutations associated with ichthyosis were described in more than 40 genes until today. Mutation in the abca12 gene can also cause a severe, oftenfatal form of congenital ichthyosis, socalled harlequin ichthyosis arci4b. Please note, for carriertargeted variant tests the approval status depends on whether the gene is in an approved genedx. Although it was originally thought that li and cie were different entities. Autosomal recessive congenital ichthyosis 2 conditions.
Autosomal recessive congenital ichthyosis request pdf. Autosomal recessive ichthyosis with hypotrichosis caused. This enzyme is found in cells that make up the outermost layer of the skin the epidermis. In severe cases, ectropion, eclabium, and scarring alopecia of the scalp and eyebrows may be present. The proportion of female patients was higher among patients 10 years of age. Pdf autosomal recessive congenital ichthyosis manuel.
These disorders are mostly nonsyndromic and limited to skin. Ichthyoses represent a genetically and phenotypically heterogeneous syndrome of abnormal epidermal cornification. Autosomal recessive congenital ichthyosis arci encompasses several forms of nonsyndromic ichthyosis. Autosomal recessive congenital ichthyosis orphanet.
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