No abstract available.
Ichthyosiform Erythroderma, Congenital*

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

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

Netherton's syndrome is an unusual disorder which consists of triad of ichtyosiform dermatosis, multiple defects of hair shaft and an atopic diathesis. The finding of bamboo hair is pathognomic in Netherton's syndrome and the ichthyosiform dermatosis may consist of either ichtyosis linearis circumflexa or congenital ichthyosiform erythroderma. Often, variability in the clinical features leads to a delay in diagnosis in many cases. We report a case of Netherton's syndrome diagnosed in the neonatal period. The patient presented with severe ichthyosis and confirmed microscopically distinctive bamboo hair.
Diagnosis ; Disease Susceptibility ; Hair ; Humans ; Ichthyosiform Erythroderma, Congenital ; Ichthyosis ; Infant, Newborn* ; Skin Diseases

OBJECTIVE: To explore the genetic cause for a child with congenital ichthyosis. METHODS: The child was subjected to next generation sequencing using a specific gene panel. Suspected mutation was validated by Sanger sequencing. RESULTS: The proband was found to harbor compound heterozygous mutations c.327delG (p.Met109Ilefs*2) and c.791G>A (p.Arg264Gln) of the TGM1 gene, which were respectively inherited from his mother and father. The same mutations were not found among 101 healthy controls. c.327delG was not reported previously. By bioinformatic analysis, both mutations are likely to impair the function of TGase-1 protein. CONCLUSION The compound heterozygous mutations of c.327delG and c.791G> A of the TGM1 gene probably underlie the ichthyosis in the proband. The result has facilitated prenatal diagnosis for this pedigree.
Female ; Humans ; Ichthyosiform Erythroderma, Congenital ; genetics ; Infant, Newborn ; Mutation ; Pedigree ; Phenotype ; Pregnancy ; Transglutaminases ; genetics

Congenital ichthyosiform erythroderma is most severe type of ichthyosis. This disease is characterized clinically by generallized erythroderma covered with flaccid bullae and verruciform scales which are especially prominent on the flexural areas. This disease demonstrates an autosomal dominant mode of inheritance. The distinctive histologic change is the extreme hyperkeratosis associated with granular and vacuolar degeneration of the mid and upper malphigian layers. Cell kinetic studies indicate an increase in the epidermal mitotic turnover tirne. This 8 months old male patient visited to Dermatologic Department of Severance Hospital on April-28, 1973. Seven days after birth the scales were appeared on his flexural region of limbs and shed to leave a raw surface which forms scales anew. And there were the intermittent appearance of flaccid bullae prominantly involve the flexural area of limb but thereafter appearing the other region of body. Skin biopsy shows that of bullous type of congenital ichthyosiform erythroderma. This baby was expired 4 days after the admission day in spite of vigorous systemic and local trea- tments. The autopsy findings had exhibited fatty necrotic degenerative changes of hepatic cells and septic inflammatory changes of meningeal vessels and meninges itself as the causes of death of this pitiful victim.
Autopsy ; Biopsy ; Cause of Death ; Dermatitis, Exfoliative ; Extremities ; Hepatocytes ; Humans ; Ichthyosiform Erythroderma, Congenital ; Ichthyosis ; Infant ; Male ; Meninges ; Parturition ; Skin ; Weights and Measures ; 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

No abstract available.
Netherton Syndrome*

Netherton syndrome (NS) is an autosomal recessive genodermatosis characterized by cutaneous and systemic complications (recurrent infections, dehydration, and sepsis). This highlights the urgency of making an accurate diagnosis, especially in infants and children. However, it is important to note that the recognition of NS is usually delayed due to its rarity and similarity to cutaneous disorders with atopiform, erythrodermic, and ichthyosiform presentations. We report a case of a 1-year-old female who was previously diagnosed with a case of infantile psoriasis and was subsequently treated with topical emollients. However, after months of surveillance, the patient developed feeding problems, failure to thrive, recurrent diarrhea, upper respiratory tract, and gastrointestinal infection, leading to repeated hospitalizations. The patient then underwent further clinical examinations and laboratory analysis, which revealed abnormal hair shaft findings, elevated immunoglobulin (Ig) E levels, and normal chromosomal analysis. Multispecialty referrals with other services were done to address the current problems and ensure holistic care for the patient. On her last admission, the patient was given three doses of intravenous Ig therapy with noted improvement in lesion presentation without any systemic symptoms.
Netherton Syndrome