Epidermolytic Ichthyosis (EI) is a rare non-syndromic keratinopathic ichthyosis without definitive treatment. This is a case of EI in a 5-year-old Filipino female who presented with hyperkeratotic scales sparing the palms and soles. Histopathology revealed epidermolytic hyperkeratosis. A trial of treatment with isotretinoin 0.3 mg/kg/day, together with keratolytic agents, urea lotion and lactic acid lotion, resulted in a marked decrease in the thickness of the scales and odor. Interestingly, rebound effects were noted at 0.6 mg/kg/day. Taking into account that EI presents with more skin fragility compared to non-EHK ichthyosis, the authors surmise that there may be a smaller treatment window for patients with EI, which is notably lower than recommended for ichthyosis in general.
Hyperkeratosis, Epidermolytic ; Isotretinoin

OBJECTIVETo investigate the gene mutation in one sporadic case of bullous congenital ichthyosiform erythroderma (BCIE), and to explore the relationship between the genotype and phenotype.

METHODSDNA was extracted from the blood samples of the patient with BCIE, unaffected members of the pedigree, and 50 unrelated healthy controls. PCR was used to amplify the hot spot fragment of keratin 1 (KRT1) and keratin 10 (KRT10) gene. The PCR products were directly sequenced to detect the mutations.

RESULTSA heterozygous 467G>A mutation was found in the patient, resulting in the substitution of arginine (R) by histidine (H) in codon 156 (R156H) in the 1A domain of the KRT10 protein but not in the healthy individuals from the family and the 50 unrelated individuals.

CONCLUSIONThe mutation of 467G>A in exon 1 of KRT10 gene identified may play a major role in the pathogenic mechanism of this case of BCIE.

Adolescent ; Base Sequence ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Hyperkeratosis, Epidermolytic ; genetics ; pathology ; physiopathology ; Keratin-10 ; genetics ; Mutation

Female ; Humans ; Hyperkeratosis, Epidermolytic ; pathology ; Infant, Newborn

Epidermal nevus arises from the pluripotential germinative cells in the basal layer of the embryonic epidermis. Histologically, it has a distinctive feature of hyperkeratosis, papillomatosis and acanthosis with elongation of the rete ridges. Epidermal nevus also has other histological variations. We report a case of a 5-year-old male who presented with pruritic linear brownish scaly papules on the right thigh. The lesion showed histological features of combined epidermolytic hyperkeratosis and porokeratosis type of epidermal nevus.
Child, Preschool ; Epidermis ; Humans ; Hyperkeratosis, Epidermolytic* ; Male ; Nevus* ; Papilloma ; Porokeratosis* ; Thigh

Epidermolytic acanthoma is an uncommon benign tumor characterized histologically by epidermolytic hyperkeratosis. Clinically, the tumor resembles a verruca or seborrheic keratosis and may occur in either isolated or disseminated forms. Herein, we present a case of a 46-year-old male who developed multiple seborrheic keratosis or verruca like papules on his trunk which showed epidermolytic hyperkeratosis upon microscopic examination. Following clinical and histological findings, the patient was diagnosed as having disseminated epidermolytic acanthoma.
Acanthoma* ; Humans ; Hyperkeratosis, Epidermolytic ; Keratosis, Seborrheic ; Male ; Middle Aged ; Warts

Epidermolytic acanthoma is a rare benign tumor, which may occur in both isolated and disseminated forms. Clinically, this asymptomatic lesion resembles a verruca or molluscum. Histopathologically, it is characterized by epidermolytic hyperkeratosis, also referred to as granular degeneration. We, herein, report a case of isolated epidermolytic acanthoma on the scrotum in a 36-year-old man for its rarity in Korean dermatologic literature.
Acanthoma* ; Adult ; Humans ; Hyperkeratosis, Epidermolytic ; Scrotum ; Warts

A 34-year-old female patient presented multiple 1-2mm sized dark brown coloured keratin plugs, within dilated follicles on the lower extremities from the birth. Histopathological findings showed a wide and deep invagination of the epidermis filled with keratin plugs which is a typical feature of nevus comedonicus, and the presence of epidermolytic hyperkeratosis on the epidermis and follicular wall. On another area, histopathological findings showed the presence of hyperkeratosis, acanthosis and epidermolytic hyperkeratosis of the epidermis; there are common changes of systematized epidermal nevus. We herein report a case of nevus comedonicus with epidermolytic hyperkeratosis.
Adult ; Epidermis ; Female ; Humans ; Hyperkeratosis, Epidermolytic* ; Lower Extremity ; Nevus* ; Parturition

On histological examination, an epidermolytic hyperkeratosis was observed adjacent to follicular papules on the back of a 53-year-old man. It has been reported that incidental epidermolytic hyperkeratosis occur either within various lesion (epidermal neoplasm, melanocytic neoplasm, scars, and inflammatory conditions) or in the normal skin adjacent to the lesion. This patient participated in the Vietnam War for 2 years, and had had contact with defoliants. He was treated for multiple peripheral neuropathies and cerebral infarcts. In keratinocytes, 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD; Agent Orange) contained in defoliating agents is associated with altered patterns of keratinocyte differentiation. So, as a cause of incidental epidermolytic hyperkeratosis, defoliant contact could be suspected.
Cicatrix ; Humans ; Hyperkeratosis, Epidermolytic* ; Keratinocytes ; Middle Aged ; Peripheral Nervous System Diseases ; Skin* ; Tetrachlorodibenzodioxin ; Veterans* ; Vietnam*

The hereditary epidermolytic palmoplantar keratoderma (Vorner"s kerato derma) is characterized by autosomal dominantly inherited, marked, symmetrical thickening of the palms and soles. The presence of epidermolytic hyperkeratosis in skin biopsy differentiates hereditary epidermolytic palmoplantar keratoderma from Unna-Thost keratoderma. We report a case of hereditary epidermolytic palmoplantar keratoderma with literature reviews focused on the differential points from other palmoplantar keratodermas.
Biopsy ; Hyperkeratosis, Epidermolytic ; Keratoderma, Palmoplantar ; Keratoderma, Palmoplantar, Epidermolytic* ; Skin

BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease of cornification which presents as severe thickening of the palms and soles with prominent epidermolytic hyperkeratosis pathologically. Recent studies have shown that EPPK is caused by mutations in the keratin 9 (K9) gene which is expressed essentially only in the palms and soles. Previously, We have reported that patients in one large pedigree of EPPK have an R162W substitution in the K9 protein. In this pedigree, two women whose husbands are both EPPK patients had become pregnant. OBJECTIVE: Since both women were concerned about this genetic disorder, we have performed prenatal diagnosis by biopsy analysis of chorionic villi tissue. METHODS: Chorionic villi biopsies were performed at 12 weeks gestation. Since the skin lesions are strictly confined to the palms and soles of the babies, the prenatal diagnosis of EPPK by ultrastructural analysis of fetal skin biopsy or amniotic fluid cells is highly problematic. Polymerase chain reaction amplification of specific allele (PASA) assay and direct DNA sequencing analyses were performed whether the fetuses carried mutant allele of K9 gene. RESULTS: PASA assay and direct DNA sequencing analyses showed that one fetus was normal, but the other fetus carried the abnormal allele. Subsequently, the mother of the unaffected fetus delivered a normal child, but the mother of the affected fetus terminated the pregnancy. CONCLUSION: We describe the analysis of the K9 mutation in the two fetuses at risk for EPPK. We believe that this is the first report of prenatal diagnosis for EPPK. But, we have to think about the ethical problems before we decide to perform the prenatal diagnosis of any kind of skin diseases.
Alleles ; Amniotic Fluid ; Biopsy ; Child ; Chorionic Villi ; Chorionic Villi Sampling ; Female ; Fetus ; Humans ; Hyperkeratosis, Epidermolytic ; Keratin-9 ; Keratoderma, Palmoplantar, Epidermolytic* ; Mothers ; Pedigree* ; Polymerase Chain Reaction ; Pregnancy* ; Prenatal Diagnosis* ; Sequence Analysis, DNA ; Skin ; Skin Diseases ; Spouses