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

Palmoplantar keratodermas are divided into autosomal dominant and autosomal recessive groups by the mode of transmission. The autosomal dominantly transmitted group is further divided into epidermolytic and nonepidermolytic types according to the histological findings. Hereditary epidermolytic palmoplantar keratoderma manifests clinically as a localized thickening of the palms and soles. Herein we report a 29-year-old woman showing the typical clinical and histologic features of epidermolytic palmoplantar keratoderma without family history. This case could be spontaneous mutations that will later breed a true autosomal dominant trait.
Adult ; Female ; Humans ; Keratoderma, Palmoplantar ; Keratoderma, Palmoplantar, Epidermolytic*

We observed a family with 12 members in four consecutive generations affected by hereditary epidermolytic palmoplantar keratoderma(HEPPK). The affected family members demonstrated not only autosomal dominant inheritance, but also a high penetrance and constant expression. The lesion of all affected person had developed at birth or within the first few weeks of life. The lesions of three members(the proband, her sister and mother) were biopsed, and all of them showed the characteristic features of epidermolytic hyperkeratosis. Two of family members(the proband, her nephew-not affected by HEPPK) had vitiligo, but we concluded that this coexistance was accidental.
Family Characteristics* ; Humans ; Hyperkeratosis, Epidermolytic ; Keratoderma, Palmoplantar, Epidermolytic* ; Parturition ; Penetrance ; Siblings ; Vitiligo ; Wills

Epidermolytic keratosis palmaris is a rare disease which shows clinical findings of Unna Thost keratoderma and histopathologic of epidermolytic hyperkeratosis. We report herein a case of epidermolytic keratosis palmaris et plantaris in a 16-month-old female baby. Light microscopy shows marked hyperkeratosis, large irregular keratohyalin granules, and large clear spaces in the granular and upper spinous layers. Eletron microscopic findings shows that the clear spaces are areas of cytoplasm filled with a fibrillar material and cellular organelles. Abnormal clumping of tonofilament and keratohyalin is also present.
Cytoplasm ; Female ; Humans ; Hyperkeratosis, Epidermolytic ; Infant ; Intermediate Filaments ; Keratoderma, Palmoplantar* ; Keratosis* ; Microscopy ; Organelles ; Rare Diseases

In this article we reviewed the current researches on the molecular basis of epidermolytic palmoplantar keratoderma (EPPK) and the structure and function of the keratins with mutations that can cause inherited keratin disorders. Also summarized are seventeen mutations of keratin 9 in EPPK in different ethnic populations.
Humans ; Keratin-9 ; genetics ; physiology ; Keratoderma, Palmoplantar, Epidermolytic ; genetics ; pathology ; physiopathology ; Mutation

No abstract available.
Costello Syndrome ; Keratoderma, Palmoplantar

No abstract available.
Animals ; Horns* ; Keratoderma, Palmoplantar*

OBJECTIVE: To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree. METHODS: Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing. RESULTS: We found a G485A transition in ke ratin 9 gene, resulting in the substitution of glutamine for arginine at codon 162 in this diffuse palmoplantar keratoderma family. The mutation was not found in the 10 unrelated control samples and 4 normal individuals. CONCLUSION The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.
Base Sequence ; DNA Mutational Analysis ; Female ; Heterozygote ; Humans ; Keratins ; genetics ; Keratoderma, Palmoplantar, Diffuse ; genetics ; Male ; Molecular Sequence Data ; Mutation ; Pedigree

We reviewed two cases of keratosis punctata palmaris et plantaris(KPP) and the scanning electron microscopic findings(SEM). The skin lesions of KPP are multiple, hyperkeratotic on the palms and soles with central pitting. There was no subjective symptoms. The histologic findigs revea,l marked hyperkeratosis, hypergranulosis, and acanthosis with depression of the underlying malpighian layers. The SEM findings reveal one hyperkeratoic plug on punctate lesion(case I ) and three hyperkeratotic plugs on depression of the malpighian layer(case ll ).
Depression ; Keratoderma, Palmoplantar* ; Keratosis* ; Skin

Arsenic is a known human carcinogen and skin manifestations are the earliest and most specific markers of chronic arsenic poisoning. A 43-year-old man from Luzon presented at the Section of Dermatology with a one-year history of hyperkeratotic papules and plaques on the palms and soles. Numerous round hypopigmented macules were scattered on the upper back. Initial 24-hour urine arsenic level was elevated at 288mcg/liter. The patient underwent successful chelation with N-acetylpenicillamine and the palmoplantar keratoses were treated with cryotherapy and topical 20% salicylic acid in white petrolatum. In cooperation with the Department of Health, a comprehensive health and environmental assessment was conducted in the affected communities. This case highlights the role of dermatologists in the diagnosis and management of this public health problem.