Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma

1985 ◽  
Vol 121 (4) ◽  
pp. 477-488 ◽  
Author(s):  
M. L. Williams
Keyword(s):  
Autosomal Recessive ◽  
Lamellar Ichthyosis ◽  
Congenital Ichthyosiform Erythroderma ◽  
Recessive Ichthyosis ◽  
Biochemical Differentiation

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency

2018 ◽  
Vol 93 (6) ◽  
pp. 1252-1253 ◽  
Author(s):  
D. Monies ◽  
J. Anabrees ◽  
N. Ibrahim ◽  
H. Elbardisy ◽  
M. Abouelhoda ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Ichthyosis

THE ICHTHYOSIFORM DERMATOSES

PEDIATRICS ◽  
1968 ◽  
Vol 42 (6) ◽  
pp. 990-1004
Author(s):  
Nancy B. Esterly
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Investigation ◽  
Correct Diagnosis ◽  
Associated Anomalies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Clinical Variants ◽  
Congenital Ichthyosiform Erythroderma ◽  
Mode Of Inheritance

The Term ichthyosis describes a group of heritable disorders which are characterized by cutaneous scaling. The visible scale differentiates these disorders from xeroderma in which the skin is dry but does not visibly desquamate. Many classifications of the ichthyoses have been proposed, but most are descriptive and contribute little to an understanding of etiology and pathogenesis. Often clinical variants or patients with minor associated anomalies have been categorized separately on an empirical basis and, in some cases, several names have been used for one entity to indicate severity of involvement. The most useful classification appears to be that of Wells and Kerr,1 who segregated the various types by their pattern of inheritance and retained the nomenclature in common usage. Differences in clinical features and histologic patterns also correlate with these genetically distinguishable types. Thus, with careful attention to the distribution and type of scale, family history, and skin histology, the physician will be able to classify patients in a meaningful way. Such an approach is helpful for several reasons. The prognosis, troublesome features, and degree of handicapping differ for the various ichthyoses. Sensible genetic counseling, an important part of the management of such patients, is possible only with the correct diagnosis. Moreover, clinical investigation of affected individuals will be further confused unless the entity under study is well defined. The need for an understanding of the physiologic and biochemical defects of ichthvotic skin is underscored by the limitations of currently available therapy. The four major types of ichthyosis include: (1) ichthyosis vulgaris, transmitted as an autosomal dominant trait; (2) sexlinked ichthyosis, transmitted as an Xlinked trait; (3) bullous congenital ichthyosiform erythroderma (CIE), inherited as an autosomal dominant trait; and (4) nonbulbus congenital ichthyosiform erythroderma, autosomal recessive mode of inheritance (Table I).

scholarly journals Netherton’s Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood

2020 ◽  
Vol 12 (1) ◽  
pp. 64-69
Author(s):  
Akshay Flora ◽  
Annika Smith
Keyword(s):  
Genetic Disease ◽  
Sanger Sequencing ◽  
Autosomal Recessive ◽  
Correct Diagnosis ◽  
Hair Shaft ◽  
Cutaneous Inflammation ◽  
Erythrodermic Psoriasis ◽  
Timely Fashion ◽  
Congenital Ichthyosiform Erythroderma

Netherton’s syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals will typically also develop a hair shaft abnormality known as trichorrhexis invaginata, severe atopy, and a migratory rash known as ichythyosis linearis circumflexa. The chronicity and severity of NS adversely affects a patient’s quality of life to a large extent. It Is therefore important that this condition is identified early, and treatment to reduce cutaneous inflammation is initiated in a timely fashion. However, due to this condition being relatively rare, a lack of awareness may lead clinicians to misdiagnose it as atopic dermatitis or undifferentiated psoriasis. Clinicians should therefore be aware of the peripheral stigmata that this disease may present as in adulthood, so that a correct diagnosis can be made if it was previously missed. Here we present a case of two male siblings from Jordon who were misdiagnosed since childhood as having erythrodermic psoriasis. Clinical examination of one of the siblings, as an adult, revealed multiple peripheral features associated with NS. Genetic analysis through sanger sequencing was also able to identify a mutation in the SPINK5 gene, confirming the diagnosis.

Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene

2001 ◽  
Vol 144 (4) ◽  
pp. 726-730 ◽  
Author(s):  
P.B. Cserhalmi-Friedman ◽  
L.M. Milstone ◽  
A.M. Christiano
Keyword(s):  
Autosomal Recessive ◽  
Lamellar Ichthyosis

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

1995 ◽  
Vol 9 (3) ◽  
pp. 279-283 ◽  
Author(s):  
Laura J. Russell ◽  
John J. DiGiovanna ◽  
Geraldine R. Rogers ◽  
Peter M. Steinert ◽  
Nemat Hashem ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Lamellar Ichthyosis ◽  
Transglutaminase 1

scholarly journals Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

2007 ◽  
Vol 80 (3) ◽  
pp. 467-477 ◽  
Author(s):  
Lina Basel-Vanagaite ◽  
Revital Attia ◽  
Akemi Ishida-Yamamoto ◽  
Limor Rainshtein ◽  
Dan Ben Amitai ◽  
...  
Keyword(s):  
Serine Protease ◽  
Autosomal Recessive ◽  
Type Ii ◽  
Transmembrane Serine Protease ◽  
Recessive Ichthyosis
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