No abstract available.
Ichthyosis, Lamellar*

No abstract available.
Ichthyosis, Lamellar*

Harlequin ichthyosis (HI) is a rare type of congenital keratinization disorder that, when left untreated, usually leads to early neonatal demise. A clinical diagnosis of HI is considered when a patient presents with thick plate-like scaling of the skin together with eclabium, ectropion, and nasal hypoplasia. The diagnosis can be confirmed by genetic testing to determine mutation in the adenosine triphosphate-binding cassette A12 (ABCA12) gene. Early administration of systemic retinoids to promote desquamation and emollients to control excessive scaling and dryness of the skin lead to better prognosis in most cases of HI. We present the case of a 4-year-old male with HI who has been successfully managed with bland emollients and systemic acitretin therapy, which we started when he was 1 year old.
Ichthyosis, Lamellar

No abstract available.
Humans ; Ichthyosis ; Ichthyosis, Lamellar

Introduction: Harlequin ichthyosis (HI) is a rare type of autosomal recessive congenital ichthyosis. There are approximately 200 documented cases worldwide, with less than five published reports in the Philippines. Despite its rarity, current literature suggests a better prognosis for these patients. Case description: We describe a preterm male newborn who presented at birth enclosed in a thick hyperkeratotic armor-like scale plates with areas of fissures, with associated ectropion, conjunctiva dehiscence, and eclabium. The thickened encasement also covered the hands and feet, causing severe contractures. A diagnosis of harlequin ichthyosis was given based on the clinical features. The patient was managed through a multidisciplinary approach, including referral to the tele-ichthyosis platform of a US-based foundation for patients with ichthyosis. Thermoregulation, nutrition, and hydration were carefully managed. Bland emollients were applied generously following normal saline soaks to improve barrier protection. Acitretin was administered on day 2 of life to facilitate the desquamation of the thickened encasement. A marked decrease in erythema and the thickness of the hyperkeratotic skin, and reduced conjunctival dehiscence were noted after one week of therapy. However, the constrictions on the hands and feet showed bluish discoloration and signs of necrosis. Linear band excision was performed to release the constrictors. Despite aggressive management, the patient succumbed to sepsis on day 12 of life. Conclusion Improved prognosis amongst HI patients is correlated with optimal quality of care regardless of resource limitations. A multidisciplinary approach and early administration of retinoids cannot be overemphasized. Linear band excision within the first week of life is suggested for constrictions on the extremities that do not improve with retinoids to avoid necrosis and autoamputation.
Ichthyosis, Lamellar ; Acitretin

The Harlequin fetus-ichthyosis fetalis-is known to be rare. Recently, we experienced a case of Harlequin fetus in stillborn infant due to autosomal recessive inheritance likely. A review of literature was done briefly.
Humans ; Ichthyosis, Lamellar* ; Infant ; Wills

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

A collodion baby is born with a tough, inelastic parchment-like membrane covering the whole body surface. As the meinbrane fissures and peels, a more characteristic ichthyosiform change is evident beneath the collodion membrane. Uncommonly, normal skin is found under it. We herein present two cases af collodion baby, which were confirmed as a sporadic case of lamellar ichthyosis and a case of lamellar exfoliation of the newborn, respectively, after long-term clinical observation. It is necessary that detailed genetical and molecular biological studies should be perforrned in order to elucidate the fur:damental, molecular changes that cause these dramatic cutaneous changes.
Collodion* ; Humans ; Ichthyosis, Lamellar ; Infant, Newborn ; Membranes ; Skin

ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein A12 gene, and the pattern of inheritance is autosomal recessive. Prenatal sonographic diagnosis of HI has not been frequently reported. Here, we report a case of HI detected at 28 weeks of gestation and discuss with the sonographic findings and a brief review of literature. The diagnosis was reached mainly based on 2-dimensional and 3-dimensional ultrasound findings. Three-dimensional ultrasound applications help recognize facial morphology, and thus, greatly contributes to prenatal diagnoses.]]>
Adenosine ; Diagnosis ; Humans ; Ichthyosis ; Ichthyosis, Lamellar ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis ; Skin ; Ultrasonography ; Wills

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