1.Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris.
Zheng-mao HU ; Zhi-guo XIE ; Ling-qian WU ; De-sheng LIANG ; Hai-yan ZHU ; Qian PAN ; Zhi-ga LONG ; He-ping DAI ; Jia-hui XIA ; Kun XIA
Acta Academiae Medicinae Sinicae 2007;29(3):302-306
OBJECTIVETo elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).
METHODSLinkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.
RESULTSA maximum two-point Lod score of 3.46 (theta=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients.
CONCLUSIONThe pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.
Female ; Humans ; Ichthyosis Vulgaris ; genetics ; Male ; Pedigree
2.A Case of Pityriasis Rotunda Aggravated During Pregnancy.
Won Bok CHOI ; Soo Hyun YOON ; Moon Kyun CHO ; Jong Suk LEE ; Kyu Uang WHANG
Korean Journal of Dermatology 2004;42(6):805-807
Pityriasis rotunda is an uncommon dermatosis characterized by asymptomatic, multiple, widely distributed, strikingly circular hypopigmented or hyperpigmented, scaly patches on the trunk and extremities. Histopathologic findings are consistent with ichthyosis vulgaris. It has been associated with a variety of underlying systemic diseases. We report a case of pityriasis rotunda aggravated during pregnancy.
Extremities
;
Ichthyosis Vulgaris
;
Pityriasis*
;
Pregnancy*
;
Skin Diseases
3.Biochemical and Biological Progress in the Studies of Keratinization and Dyskeratosis.
Ogawa HIDEOKI ; Takamori KENJI ; Negi MAKOTO ; Takashi YOSHIIKE
Korean Journal of Dermatology 1985;23(4):429-440
Recent topics of biochemical and biological progress in keratinization and dyskeratosis were reviewed and discussed. The main topics were as follows: (1) what is keratin (2) Differentiation of keratinocytes (keratinization), (3) Components of horny substances and their derivation, (4) Keratin filament and keratohyaline granule, (5) Synthesis of horny cell membrane (disulfide bonds, e- (T-glutamyl) lysine bonds), (6) Biochernical analysis of dyskeratosis (harlequin fetus, ichthyosis vulgaris, X-linked ichthyosis, lamellar ichthyosis, bullous congenital ichthyosiform erythroderma, psoriasis vulgaris, Dariers disease, M:enke's syndrome, Netherton's disease, Richner-Hanhart syndrome). These findings should lead to a more cornplete understanding of the pathologic events that occur in the process of keratinization and more rational therapy for many disorders in keratinization.
Cell Membrane
;
Darier Disease
;
Fetus
;
Hyperkeratosis, Epidermolytic
;
Ichthyosis
;
Ichthyosis Vulgaris
;
Ichthyosis, Lamellar
;
Keratinocytes
;
Lysine
;
Psoriasis
4.The Genetic and Clinical Studies of Ichthyoses.
Korean Journal of Dermatology 1982;20(6):859-866
This study was attempted mainly to estimate the frequency of ichthyoses and its genetic characteristics among general population in Chonnam Province. One hundredand thirtyone subjects heing comprised of 121 with ichthyosis vulgaris, 6 with X-linked recessive ichthyosis and 4 with lamellar ichthyosis visited the department of Dermatology, Chonnam National University Hospital from 1971 through 1980. All except 7 patients had visited the hospital with chief complaints of a skin problem other than ichthyoses itself. The frequency of ichthyosis vulgaris seems to be somewhere between, 1/300 and 1/400. 86% were found to either be sporadic cases or come from families from which not enough information was obtained to define a mode of inheritance. The fact that 43% of the sibling of affected patients developed ichthyosis vulgaris points out that it is a highly penetrant autosomal dominant, disease. Skipped generation was observed in 2 families, and gonadal mosaicism in 1 family. Atopic diseaaes were found only in 12.0% of cnses of ichthyosis vulgaris. The disease appeared in 81% of cases before 1 year af age. The skin lesions of ichthyoses were developed on the lower limhs, back, upper limbs, abdomen and scalp in the order of frequency.
Abdomen
;
Dermatology
;
Gonads
;
Humans
;
Ichthyosis Vulgaris
;
Ichthyosis*
;
Ichthyosis, Lamellar
;
Jeollanam-do
;
Mosaicism
;
Scalp
;
Siblings
;
Skin
;
Upper Extremity
;
Wills
5.A Case of Acquired Ichthyosis Associated with Diabetes Mellitus, Chronic Renal failure and Hypertension.
Korean Journal of Dermatology 2000;38(3):407-409
Acquired ichthyosis is a rare condition and ususually occurs in adult patients with various systemic diseases and drugs that affect cholesterol metabolism. As a rule when the underlying disease goes into remission, the ichtyosis regress. Clinically and histopathologically it is similar to ichthyosis vulgaris. We report a 43-year-old man with acquired ichthyosis, who associated with diabetes mellitus, chronic renal failure and hypertension.
Adult
;
Cholesterol
;
Diabetes Mellitus*
;
Humans
;
Hypertension*
;
Ichthyosis Vulgaris
;
Ichthyosis*
;
Kidney Failure, Chronic*
;
Metabolism
6.Four Cases of Acquired Ichthyosis after Bone Marrow Transplant.
Eui Han KIM ; Dong Won LEE ; Jun Young LEE ; Baik Kee CHO
Korean Journal of Dermatology 1999;37(5):682-684
Acquired ichthyosis is similar to ichthyosis vulgaris clinically and histologically, but it may develop in patients with several systemic disease and secondary to multiple drugs. Acquired ichthyosis was observed in four patients who had recieved bone marrow transplantation. Immunosuppression or abnormality of the immune system after bone marrow transplants may have a role in the pathogenesis of acquired ichthyosis.
Bone Marrow Transplantation
;
Bone Marrow*
;
Humans
;
Ichthyosis Vulgaris
;
Ichthyosis*
;
Immune System
;
Immunosuppression
7.Tuberous Sclerosis Report of Two Cases and Review of Literatures in Korea.
Soon Taek KIM ; Ho Suk SEONG ; Tae An CHUNG
Korean Journal of Dermatology 1973;11(2):93-99
Two cases of tuberous sclerosis are reported. Case 1: A 13 years-old girl had a triad of adenoma sebaceum, mental deficiency and epileptic seizures associated with ichthyosis vulgaris, but family history revealed no evidences of the disease except ichthyosis in her mother. Case 2 : A 21 year-old woman had a adenoma sebaceum, shagreen patch, periungual fibroma and fihromatous plaque, showing intracranial calcificatins on roentgenographic examination, but has not demonstrated any neurological manifestations as yet. Family history also revealed adenoma sebaceum in her father and two younger sisters. We feel this case is a "forme fruste" of tuberous sclerosis.
Adolescent
;
Epilepsy
;
Fathers
;
Female
;
Fibroma
;
Humans
;
Ichthyosis
;
Ichthyosis Vulgaris
;
Intellectual Disability
;
Korea*
;
Mothers
;
Neurologic Manifestations
;
Siblings
;
Tuberous Sclerosis*
;
Young Adult
8.Pityriasis Rotunda Treated with Combination of Topical and Oral Retinoid.
Hyun Woo KIM ; Hyun Chul PARK ; Hyun Soo ROH ; Jeong Eun KIM ; Joo Yeon KO ; Young Suck RO
Korean Journal of Dermatology 2012;50(10):917-920
Pityriasis rotunda (PR) is a rare disease characterized by persistent, sharply defined, oval, scaly patches of dry skin, localized mainly on the trunk and extremities. Its etiology remains unknown. However, several reports suggest that it is a form of acquired ichthyosis vulgaris or a skin manifestation of systemic disease, such as malnutrition, chronic illness, hepatic disease, and malignancies. Although a variety of treatment modalities, including topical lactic acid, urea, tars, emollients, and corticosteroid, have been applied to it, their efficacies are not satisfactory. Herein, we report a case of PR in a healthy man who was successfully treated with oral and topical retinoids.
Chronic Disease
;
Emollients
;
Extremities
;
Ichthyosis
;
Ichthyosis Vulgaris
;
Lactic Acid
;
Malnutrition
;
Pityriasis
;
Rare Diseases
;
Retinoids
;
Skin
;
Skin Manifestations
;
Tars
;
Urea
9.Pityriasis Rotunda Treated with Combination of Topical and Oral Retinoid.
Hyun Woo KIM ; Hyun Chul PARK ; Hyun Soo ROH ; Jeong Eun KIM ; Joo Yeon KO ; Young Suck RO
Korean Journal of Dermatology 2012;50(10):917-920
Pityriasis rotunda (PR) is a rare disease characterized by persistent, sharply defined, oval, scaly patches of dry skin, localized mainly on the trunk and extremities. Its etiology remains unknown. However, several reports suggest that it is a form of acquired ichthyosis vulgaris or a skin manifestation of systemic disease, such as malnutrition, chronic illness, hepatic disease, and malignancies. Although a variety of treatment modalities, including topical lactic acid, urea, tars, emollients, and corticosteroid, have been applied to it, their efficacies are not satisfactory. Herein, we report a case of PR in a healthy man who was successfully treated with oral and topical retinoids.
Chronic Disease
;
Emollients
;
Extremities
;
Ichthyosis
;
Ichthyosis Vulgaris
;
Lactic Acid
;
Malnutrition
;
Pityriasis
;
Rare Diseases
;
Retinoids
;
Skin
;
Skin Manifestations
;
Tars
;
Urea
10.A Case of Familial Telangiectasia of Face.
Korean Journal of Dermatology 1977;15(4):459-463
A case of familial telangiectasia of face resembling lupus erythematosus but no having other involved symptoms, except ichthyosis vulgaris of lower legs in all 4 sisters, appeared on 8 months through 2 years after birth is reported Authors suggest this case to be simplified congenital telangiectasia of face, because of not consisted with preexistiong various diseases such as Bloom's syndrome, Ataxia-Telangiectasia, Rothmund-Thomsons' Syndrome, Dyskeratosis congenita, and Cockayne's syndrome, which show the familial telangiectasia of face.
Ataxia Telangiectasia
;
Bloom Syndrome
;
Dyskeratosis Congenita
;
Humans
;
Ichthyosis Vulgaris
;
Leg
;
Parturition
;
Siblings
;
Telangiectasis*