No abstract available.
Humans ; Ichthyosis ; Ichthyosis, Lamellar

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

Collodion baby is one of the rare congenital ichthyosiform dermatoses first described by Seeligmann in 1841. It is a phenotypic expression of several genotypes such as aex-linked ichthyosis and bullous and non-bullous congenital ichthyosiform erythroderma. The infant is enveloped in a smooth and shiny collodion-like membrane at birth, which temporarily may deform the facial feature and extremities. The skin clears almost completely in the first month of life and remains free of ichthyosis. Etiology of this condition is still controversy, but it has been known that abnormalities of other organs are not accompanied but prematurity frequently. We present two cases of collodion baby with electron microscopic findings. In the upper stratum spinosum, keratinosomes and desomoaomes were increased in the keratinocytes, and intercellular spaces widened, however, desmosomes and tonofilaments were intact. These findings were similar to those of nonbullous congenital ichthyosiform erythroderma. But in some widened intercellular spaces of the upper stratum spinosum, multiple finely granular electron dense particles were seen within large round membranous structures.
Collodion* ; Desmosomes ; Extracellular Space ; Extremities ; Genotype ; Humans ; Ichthyosiform Erythroderma, Congenital ; Ichthyosis ; Ichthyosis, Lamellar ; Infant ; Intermediate Filaments ; Keratinocytes ; Membranes ; Parturition ; Skin ; Skin Diseases

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

Frey syndrome is characterized by sweating and flushing on the auriculotemporal region in respense to gustatory stimuli following surgery, trauma or irfection of the parotid areas. A 22-year-old man had received a surgery for sclerosis and hypertrophy of the left mandible. Two months after operation gustatory sweating occurred, whenever he eats, on the malar area without any detectable flushing or sensory impairment. Sweating starts in 30 seconds during food intake and is clearly visible with naked eyes within 2 minutes. This syndrome is encountered uncommonly to the dermatologic practitioners but more cases might be discovered if more attention could be given to this condition.
Acitretin* ; Administration, Oral ; Eating ; Etretinate* ; Flushing ; Humans ; Hyperkeratosis, Epidermolytic ; Hypertrophy ; Ichthyosiform Erythroderma, Congenital ; Ichthyosis* ; Mandible ; Nevus ; Porcupines* ; Sclerosis ; Sweat ; Sweating ; Sweating, Gustatory* ; Young Adult

Ichthyosis hystrix is characterized by extensive bilateral systemic involvement of thick hyperkeratotic verrucous papules forming confluent plaques or linear arrangement and is currently classified into a systematized epidermal nevi, which was once conaidered as an extreme variant of congenital ichthyosiform erythroderma. Here is presented a case with typical clinical features and characteristic histopathologic findings of epidermolytic hyperkeratosis. Our patient exhibited no skeletal or CNS abnormalities reported to be associated with this condition. Marked improvement was obtained with oral administration of etretinate.
Acitretin* ; Administration, Oral ; Eating ; Etretinate* ; Flushing ; Humans ; Hyperkeratosis, Epidermolytic ; Hypertrophy ; Ichthyosiform Erythroderma, Congenital ; Ichthyosis* ; Mandible ; Nevus ; Porcupines* ; Sclerosis ; Sweat ; Sweating ; Sweating, Gustatory* ; Young Adult

Few cases of ichthyosis bullosa of Siemens(IBS) have been reported since 1939, as a distinct entity from bullous congenital ichthyosiform erythroderma(BCIE). IBS can be differentiated from BCIE by the absence of congenital erythroderma and a different distribution of involved skin area. It's characteristic features include blistering, superficial erosion or moulting of the outer skin. Histological features are tonofilaments aggregation confined to the granular and upper spinous layer of the epidermis. However, in BCIE these findings are present in the whole suprabasal compartment. The original reports of Siemens and cases from other authors showed an autosomal dominant inheritance. Our patient developed IBS sporadically without a familial background.
Blister ; Dermatitis, Exfoliative ; Epidermis ; Humans ; Ichthyosis Bullosa of Siemens* ; Ichthyosis* ; Intermediate Filaments ; Molting ; Skin ; Wills

BACKGROUND: Ichthyosis is the name of a group of disorders characterized by a generalized, persistent, non-inflammatory scaling disorder of the skin. Filaggrin is an intermediate filament associated protein which functions to aggregate keratin intermediate filaments in the stratum corneum of mamrnalian epidermis. It is synthesized as a large precursor protein, profilaggrin, that consists of multiple filaggrin units and is localized in keratohyalin granules(KHG). Some reports elucidated the pathogenetic role of filaggrin in ichthyosis, especially autosomal-dominant ichthyosis(ADI). OBJECTIVE: We conducted an immunohistochemical study in order to observe the relationship between clinical phenotypes of various ichthyosiform dermatoses and the exprassion of filaggrin. MATERIALS AND METHODS: Clinically and histopathologically proven ADI, lamellar exfoliation of the newborn, lamellar ichthyosis, epidermolytic hyperkeratosis, and acquired ichthyosis cases were included in this study. Using monoclonal mouse anti-human filaggrin antibodies, an immunohisto-chemical study was performed with formalin-fixed, parraffin-embedded involved skin tissues via the ABC technique. RESULTS: Filaggrin was staind linearly or in a punctuate pattern along the granular cell layer of the normal epidermis. The expression of the filaggrin was decreased or partly absent in the skin tissue of ADI in accordance with the changes of KHGs. Similar immunoreactivities with filaggrin antibodies were noted in the skin of acquired ichthyosis. In lamellar exfoliation of the newborn, filaggrin was staineil from the stratum granulosum to the mid-layer of the stratum corneum with basket-weave byperkeratosis. Filaggrin was intensely and focally labelled in the normal acrosyringium of the lamellar ichthyosis from the granular layer to the mid horney layer. A decreased positive immunorcactivity was observed in the interfollicular stratum granulosum. A strong immunoreactivity was noted in the area with relatively normal KHGs of epidermolytic hyperker atosis, and a decreased l membranous staning pattern was observed in the layer with degenerated vacuolar KHGs. CONCLUSION: It can be concluded that decreased expression of filaggin may play a causative role in the pathogenesis of ADI. However in lamellar exfoliation of the newborn, lamellar ichthyosis, epidermolytic hyperkeratosis, and acquired ichhtyosis, the altered expression of filaggrin must reflect the changes of KHGs in the stratum granulosum.
Animals ; Antibodies ; Epidermis ; Humans ; Hyperkeratosis, Epidermolytic ; Ichthyosis ; Ichthyosis, Lamellar ; Immunohistochemistry ; Infant, Newborn ; Intermediate Filaments ; Mice ; Phenotype ; Skin ; Skin Diseases*