Genetically Transmitted, Generalized Disorders of Cornification

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

Epidermal Lipids, Barrier Function, and Desquamation

1983 • 1,296 citations

Neutral-lipid storage disease: a new disorder of lipid metabolism.

1975 • 279 citations

Heterogeneity of Chondrodysplasia punctata

1971 • 236 citations

X-Linked dominant chondrodysplasia punctata

1979 • 215 citations

Ichthyosiform Dermatoses

1966 • 213 citations

The CHILD syndrome

1980 • 213 citations

Clinical Features of Autosomal Dominant and Sex-linked Ichthyosis in an English Population

1966 • 213 citations

Ichthyosiform Dermatosis With Systemic Lipidosis

1974 • 200 citations

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.

1981 • 197 citations

The Keratitis, Ichthyosis, and Deafness (KID) Syndrome

1981 • 193 citations

Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.

1984 • 191 citations

Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome

1984 • 188 citations

Trichothiodystrophy

1980 • 170 citations

ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS

1978 • 166 citations

Genetic Classification of Ichthyosis

1965 • 153 citations

X-Linked Ichthyosis: Increased Blood Cholesterol Sulfate and Electrophoretic Mobility of Low-Density Lipoprotein

1981 • 125 citations

Heterogeneity in Autosomal Recessive Ichthyosis

1985 • 113 citations

Ichthyosiform Erythroderma, Hair Shaft Abnormalities, and Mental and Growth Retardation

1971 • 110 citations

ABNORMAL ANDROGEN AND OESTROGEN METABOLISM IN MEN WITH STEROID SULPHATASE DEFICIENCY AND RECESSIVE X‐LINKED ICHTHYOSIS

1985 • 106 citations

Eye Changes in Ichthyosis

1968 • 94 citations

The Nail in Darier-White Disease

1973 • 94 citations

Clinical, Histologic, and Cell Kinetic Discriminants Between Lamellar Ichthyosis and Nonbullous Congenital Ichthyosiform Erythroderma

1985 • 93 citations

Neutral Lipid Storage Disease With Ichthyosis

1985 • 93 citations

Ocular manifestations of ichthyosis.

1968 • 89 citations

Ichthyosis and neutral lipid storage disease

1985 • 87 citations

The Ichthyoses—Pathogenesis and Prenatal Diagnosis: A Review of Recent Advances

1983 • 87 citations

Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism

1983 • 82 citations

Autosomal dominant lamellar ichthyosis: a new skin disorder*

1984 • 81 citations

Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome)

1982 • 81 citations

The ichthyoses—a review

1983 • 80 citations

The tay syndrome (congenital ichthyosis with trichothiodystrophy)

1984 • 80 citations

Harlequin Ichthyosis With Epidermal Lipid Abnormality

1979 • 79 citations

Netherton's Syndrome and Ichthyosis Linearis Circumflexa

1969 • 79 citations

"Brittle" Hair With Short Stature, Intellectual Impairment and Decreased Fertility: An Autosomal Recessive Syndrome in an Amish Kindred

1974 • 78 citations

SPECIFIC CHANGES IN THE FUNDUS TYPICAL FOR THE SJÖGREN‐LARSSON SYNDROME

1980 • 76 citations

Epidermolytic Hyperkeratosis: Ultrastructure and Biochemistry of Skin and Amniotic Fluid Cells from Two Affected Fetuses and a Newborn Infant

1983 • 74 citations

The peeling skin syndrome

1982 • 74 citations

Prenatal diagnosis of harlequin ichthyosis

1980 • 74 citations

Patterns of Refsum's disease. Phytanic acid oxidase deficiency.

1984 • 69 citations

INCREASED CHOLESTEROL SULFATE IN PLASMA AND RED BLOOD CELL MEMBRANES OF STEROID SULFATASE DEFICIENT PATIENTS

1981 • 69 citations

KID Syndrome (Keratitis, Ichthyosis, and Deafness) and Chronic Mucocutaneous Candidiasis: Case Report and Review of the Literature

1984 • 69 citations

Erythrokeratodermia With Ataxia

1972 • 67 citations

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C

1986 • 66 citations

BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA

1953 • 62 citations

Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities

1980 • 60 citations

Keratosis Follicularis Spinulosa Decalvans

1983 • 58 citations

Lipids in the Pathogenesis of Ichthyosis: Topical Cholesterol Sulfate-Induced Scaling in Hairless Mice

1984 • 57 citations

Ichthyosis in the Sjögren‐Larsson syndrome

1982 • 57 citations

Histology of Autosomal Dominant Ichthyosis Vulgaris and X-linked Ichthyosis

1970 • 57 citations

Epidermal Metabolism in Heredopathia Atactica Polyneuritiformis (Refsum's Disease)

1978 • 57 citations

Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis

1972 • 56 citations

Phytanic Acid in Patients With Refsum's Syndrome and Response to Dietary Treatment

1970 • 52 citations

Placental steroid sulfatase deficiency: biochemical diagnosis and clinical review.

1984 • 51 citations

Steroid sulphatase deficiency disease

1985 • 51 citations

Localized Epidermolytic Hyperkeratosis

1970 • 50 citations

Clinical and genetic aspects of Conradi-Hünermann disease

1980 • 50 citations

Hereditary Renal Disease with Neurosensory Hearing Loss, Prolinuria and Ichthyosis

1968 • 50 citations

Suspected Faulty Essential Fatty Acid Metabolism in Sj??gren-Larsson Syndrome

1982 • 49 citations

Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis.

1984 • 49 citations

Prenatal diagnosis of Sjögren-Larsson syndrome

1982 • 47 citations

The Sjögren-Larsson syndrome

1967 • 47 citations

STEROID SULPHATASE DEFICIENCY ASSOCIATED WITH TESTIS CANCER

1983 • 47 citations

Review: Placental sulphatase deficiency

1982 • 47 citations

Hyperlinear Palms

1981 • 46 citations

Sjögren-Larsson Syndrome

1974 • 44 citations

Follow-up of a family group suffering from ichthyosis hystrix type Curth-Macklin

1972 • 44 citations

A SURVEY OF IGHTHYOSIS VULGARIS IN ISRAEL

1972 • 42 citations

Darier's Disease: A Partially Immunodeficient State

1981 • 42 citations

Keratinization in the Harlequin Fetus

1982 • 41 citations

FAMILIAL CONTINUAL SKIN PEELING

1969 • 39 citations

Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome

1983 • 39 citations

Erythrokeratodermia progressiva symmetrica

1982 • 39 citations

Darier's Disease

1978 • 38 citations

Cell-mediated immunity in Darier's disease: effect of systemic retinoid therapy

1982 • 38 citations

Abnormal fibrous protein isolated from the stratum corneum of a patient with bullous congenital ichthyosiform erythroderma (BCIE)

1979 • 38 citations

Generalized Epidermolytic Hyperkeratosis in the Child of a Parent With Nevus Comedonicus

1984 • 37 citations

Reevaluation of Ichthyosis and Hair Shaft Abnormalities

1971 • 36 citations

Review: The mammalian sulphatases and placental sulphatase deficiency in man

1982 • 35 citations

N-alkanes in normal and pathological human scale

1982 • 35 citations

Genetic linkage between erythrokeratodermia variabilis and Rh locus

1984 • 34 citations

Histologic Diagnosis of Inflammatory Skin Diseases

1980 • 34 citations

Keratosis Follicularis

1966 • 34 citations

Hereditary Epidermolytic Palmoplantar Keratoderma

1981 • 34 citations

A syndrom characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria

1973 • 33 citations

Keratohyalin Protein in Disorders of Keratinization

1974 • 33 citations

Keratosis follicularis spinulosa decalvans in a family from northern Finland

1971 • 32 citations

Epidermal abnormalities in Refsum's disease

1977 • 32 citations

Darier's disease: a kindred with a large number of cases

1977 • 32 citations

Erythrokeratoderma Variabilis and Variable Circinate Erythrokeratodermas

1970 • 30 citations

The Marinesco-Sjögren syndrome

1964 • 30 citations

Erythrokeratodermia Variabilis

1966 • 29 citations

Recessive X-linked ichthyosis: lack of immunologically detectable steroid sulfatase enzyme protein

1985 • 27 citations

Erythrokeratolysis hiemalis—Keratolytic winter erythema or 'Oudtshoorn Skin'.

1978 • 27 citations

The relationship between cyclic adenosine 3',5'-monophosphate and biochemical events in rat skin after the induction of epidermal hyperplasia using hexadecane

1978 • 27 citations

Erythrokeratodermia Variabilis

1978 • 27 citations

UV Radiation and Keratosis Follicularis

1984 • 24 citations

Familial Continual Skin Peeling

1983 • 23 citations

Familial ichthyosis, dwarfism, mental retardation, and renal disease

1978 • 22 citations

Cornifying Darier Disease— A Unique Variant

1976 • 22 citations

Congenital ichthyosis, mental retardation, dwarfism and renal impairment: A new syndrome

1975 • 20 citations

Sjögren‐Larsson syndrome: a dermato‐histopathological study

1982 • 19 citations

Epidermolytic hyperkeratosis as an incidental finding in normal oral mucosa

1984 • 19 citations

Heredopathia Atactica Polyneuritiformis (Phytanic Acid Storage Disease)

1975 • 19 citations

Hypernatremic Dehydration and Hypothermia in Congenital Lamellar Ichthyosis

1985 • 18 citations

Chondrodysplasia Punctata

1977 • 17 citations

A congenital ichthyosiform syndrome with deafness and elevated serum steroid disulphate levels

1980 • 17 citations

A familial syndrome of diaphyseal cortical thickening of the long bones, bowed legs, tendency to fracture and icthyosis

1979 • 16 citations

What Is Netherton's Syndrome?

1983 • 15 citations

A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome

1983 • 15 citations

The prevalence of bone cysts in Darier's disease: a survey of 31 cases

1984 • 13 citations

Review: X‐Linked Ichthyosis

1981 • 13 citations

Influence of Cell Dissociation on Normal Epidermal Cells in Hailey-Hailey�s Disease and Darier�s Disease

2015 • 13 citations

Darier's Disease and Vitamin A

1982 • 13 citations

Hypopharyngeal and Laryngeal Involvement With Darier Disease

1975 • 12 citations

Rectal Mucosa Involvement in Keratosis Follicularis

1974 • 12 citations

A lysosomal storage disorder of the epidermis characterized by a deficiency of α-mannosidase and an accumulation of mannose-rich materials

1976 • 10 citations

Sjögren‐Larsson syndrome

1985 • 9 citations

CONGENITAL ICHTHYOSIFORM ERYTHRODERMIA.

1964 • 8 citations

Bone cysts and spontaneous fractures in two siblings with dyskeratosis follicularis Darier

1978 • 7 citations

Ichthyosis Hystrix

1973 • 6 citations

Syndrome of ichthyosis, hepatosplenomegaly and cerebellar degeneration—steroid sulphatase activity

1980 • 5 citations

Selected genodermatoses in infants and children

1985 • 4 citations