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PubMed1993

[Olmsted syndrome. Successful therapy by treatment with etretinate].

A 36-year-old North American patient has been suffering from Olmsted syndrome since early childhood. This rare inborn error of keratinization consists in pronounced, multilating keratoderma of palms and soles and associated periorificial keratoses. The patient has now been treated with etretinate for more than 6 years, resulting in a marked reduction of hyperkeratoses. Electron microscopic investigation of skin biopsies taken before and during therapy have confirmed the significant clinical improvement. Even though this retinoic acid derivative, a powerful regulating agent with a de-differentiating effect, cannot cure the basic defect, the marked hyperproliferation of the epidermis is reduced, so that terminal differentiation is delayed and thereby normalized. At the same time, the synthesis of keratinization proteins, such as keratins and keratohyalin, which is suppressed before therapy, increases. The familial connective tissue disorder existing independently of Olmsted syndrome in this patient (perhaps a mild form of Ehlers-Danlos syndrome) is not influenced by the retinoid therapy.

Adult↗
PubMed1985

Hereditary palmoplantar keratoderma in the northernmost county of Sweden.

A papular and a diffuse variety of hereditary palmoplantar keratoderma (Unna Thost) are described. It was not possible to demonstrate any histopathological differences between the two varieties. Of the patients examined 36.2% were found to have dermatophytosis in addition to hereditary palmoplantar keratoderma. The hyperkeratosis was smooth and uniform in both varieties. When scaling and fissuring did occur they were signs of dermatophytosis and not part of the clinical picture. The examination of biopsies stained with H&E and PAS showed that dermatophytosis in patients with hereditary palmoplantar keratoderma, especially those with recurrent vesicular eruptions, gave rise to a histopathological picture which was, in some respects, similar to that of acute vesicular eczema.

Adolescent↗
PubMed1999

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.

Keratins are obligate heterodimer proteins that form the intermediate filament cytoskeleton of all epithelial cells. Keratins are tissue and differentiation specific and are expressed in pairs of types I and II proteins. The spectrum of inherited human keratin diseases has steadily increased since the causative role of mutations in the basal keratinocyte keratins 5 and 14 in epidermolysis bullosa simplex (EBS) was first reported in 1991. At the time of writing, mutations in 15 epithelial keratins and two trichocyte keratins have been associated with human diseases which include EBS, bullous congenital ichthyosiform erythroderma, epidermolytic palmoplantar keratoderma, ichthyosis bullosa of Siemens, diffuse and focal non-epidermolytic palmoplantar keratoderma, pachyonychia congenita and monilethrix. Mutations in extracutaneous keratins have been reported in oral white sponge naevus and Meesmann's corneal dystrophy. New subtleties of phenotype-genotype correlation are emerging within the keratin diseases with widely varying clinical presentations attributable to similar mutations within the same keratin. Mutations in keratin-associated proteins have recently been reported for the first time. This article reviews clinical, ultrastructural and molecular aspects of all the keratin diseases described to date and delineates potential future areas of research in this field.

Animals↗
PubMed2002

Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.

BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is one of a number of disorders characterized by diffuse thickening of palm and sole skin. Although EPPK is not a life-threatening condition, palmoplantar keratoderma can be associated with cancer and heart disease and therefore differential diagnosis is important so that adequate surveillance can be provided for the more serious conditions. Most cases of EPPK are caused by mutations in the gene encoding the palm- and sole-specific keratin 9 (K9), and this provides an option for molecular diagnosis of this condition. OBJECTIVES: To identify the molecular basis of diffuse palmoplantar keratoderma in four British families. METHODS: Denaturing high-performance liquid chromatography (dHPLC) and DNA sequencing were used to screen exon 1 of the k9 gene for sequence variations. RESULTS: The dHPLC profiles obtained from individuals with EPPK differed from control samples, indicating sequence variations within the fragment analysed. The profiles varied between families, suggesting that underlying mutations were different for each family; this was confirmed by DNA sequencing. In three cases previously reported mutations were found that resulted in the change of methionine156 to valine and arginine162 to either tryptophan or glutamine. A novel mutation was identified in a fourth family that changed valine170 to methionine. dHPLC was used to screen control samples for this sequence variation and confirmed that it was not a common polymorphism. CONCLUSIONS: These results confirm the diagnosis of EPPK in these families and underline the usefulness of dHPLC as a method of screening samples for heterozygous mutations.

Chromatography, High Pressure Liquid↗
PubMed2002

Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation.

In 1901, Hans Vörner observed a family with a diffuse non-transgredient palmoplantar keratoderma of autosomal dominant inheritance. Histopathologically, he found epidermolytic hyperkeratosis as a characteristic sign and diagnostic criterion of this disorder. We performed a follow-up study of the family originally seen by Vörner in 1901 with clinical, histopathological, and molecular investigations. Clinically, affected family members showed the typical diffuse keratoses over the entire surface of the palms and soles sharply bordered by red margins. A mycotic infection was additionally found in two patients examined. Histopathological investigations confirmed epidermolytic hyperkeratosis. Molecular studies revealed a novel mutation in keratin 9, N160I, in patients from the family. The mutation in the coil-1A domain is thought to have a dominant negative effect on the assembly of keratin intermediate filaments, explaining the dominant inheritance of the phenotype. These findings give further evidence that palmoplantar keratoderma of Vörner represents the same entity as palmoplantar keratoderma of Thost, which was recently re-evaluated in Thost's original family and shown to be caused by a similar mutation, R162 W, in the same segment of keratin 9.

Adolescent↗
PubMed1999

Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis characterized by diffuse keratoderma, typically with an erythematous border. Histologically, palmoplantar epidermis shows suprabasal cytolysis and ultrastructurally, tonofilament aggregation with overlying epidermolytic hyperkeratosis. Mutations in the KRT9 gene, encoding keratin 9 (K9), a cytoskeletal protein expressed exclusively in suprabasal keratinocytes of palmoplantar epidermis, have been reported to cause EPPK. To date, all KRT9 defects reported in EPPK have been missense mutations in exon 1, which encodes the start of the alpha-helical rod domain. However, based on studies of other keratin disorders, it was postulated that mutations at the other end of the rod domain might also produce the EPPK phenotype. Here, we report the first mutation in the 2B domain of KRT9, 1362ins3, leading to an insertion of histidine in the helix termination motif of the K9 polypeptide. Insertional mutations have not been previously described in keratins. The phenotype of this case is similar to EPPK caused by 1A domain mutations, demonstrating that mutations in either of the helix boundary motif sequences of K9 are detrimental to keratin function and keratinocyte structure.

Adult↗
PubMed2003

Inflammatory myopathy in a patient with cutaneous findings of pityriasis rubra pilaris: a case of Wong's dermatomyositis.

We report the case of a 46-year-old woman presenting cutaneous lesions similar to those of pityriasis rubra pilaris, characterized by diffuse scaling erythroderma and palmoplantar keratoderma; skin biopsy showed follicular hyperkeratosis with a perivascular lymphocytic infiltrate. One year later she developed an inflammatory myopathy; on the basis of clinical features, a diagnosis of dermatomyositis was made. Treatment with prednisone and hydroxychloroquine led to complete control of the cutaneous and muscular involvement, which was maintained during prednisone tapering.

Anti-Inflammatory Agents↗
PubMed1996

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Keratins are heteropolymeric proteins which form the intermediate filament cytoskeleton in epithelial cells. Since 1991, mutations in several keratin genes have been found to cause a variety of human diseases affecting the epidermis and other epithelial structures. Epidermolysis bullosa simplex (EBS) was the first mechanobullous disease for which the underlying genetic lesion was found, with mutations in both the K5 and K14 genes rendering basal epidermal keratinocytes less resilient to trauma, resulting in skin fragility. The site of mutation in the keratin protein correlates with phenotypic severity in this disorder. Since mutations were identified in the basal cell keratins, the total number of keratin genes associated with diseases has risen to eleven. The rod domains of suprabasal keratins K1 and K10 are mutated in bullous congenital ichthyosiform erythroderma (BCIE; also called epidermolytic hyperkeratosis, EH) and mosaicism for K1/K10 mutations results in a nevoid distribution of EH. An unusual mutation in the VI domain of K1 has also been found to cause diffuse non-epidermolytic palmoplantar keratoderma (DNEPPK). Mutations in palmoplantar specific keratin K9 cause epidermolytic palmoplantar keratoderma (EPPK) and mutations in the late differentiation suprabasal keratin K2e cause ichthyosis bullosa of Siemens (IBS). In the last year or so, mutations were discovered in differentiation specific keratins K6a and K16 causing pachyonychia congenita type 1 and K17 mutations occur in pachyonychia congenita type 2. K16 and K17 mutations have also been reported to produce phenotypes with little or no nail changes: K16 mutations can present as focal non-epidermolytic palmoplantar keratoderma (NEPPK) and K17 mutations can result in a phenotype resembling steatocystoma multiplex. Recently, mutation of mucosal keratin pair K4 and K13 has been shown to underlie white sponge nevus (WSN). This year, the first mutations in a keratin-associated protein, plectin, were shown to cause a variant of epidermolysis bullosa associated with late-onset muscular dystrophy (MD-EBS). An unusual mutation has been identified in K5 which is responsible for EBS with mottled pigmentation and genetic linkage analysis suggests that the hair disorder monilethrix is likely to be due to a mutation in a hair keratin. The study of keratin diseases has led to a better understanding of the importance of the intermediate filament cytoskeleton and associated connector molecules in maintaining the structural integrity of the epidermis and other high stress epithelial tissues, as well as allowing diagnosis at the molecular level thus facilitating prenatal testing for this heterogeneous group of genodermatoses.

Animals↗
PubMed2005

Pityriasis rubra pilaris, type IV.

A 4-year-old girl presented with a 3-year history of demarcated, salmon-pink, hyperkeratotic plaques, which were symmetrically distributed on the elbows, knees, ankles, and dorsal aspects of the hands and feet. A diffuse, orange-pink palmoplantar keratoderma was also evident. Clinical and histologic findings were consistent with a diagnosis of pityriasis rubra pilaris (PRP), type IV (circumscribed juvenile). Type IV PRP develops in prepubertal children, is typically localized to the distal aspects of the extremities, and has an unpredictable course. Although ultraviolet (UV) radiation can potentially exacerbate PRP, our patient has improved with broad-band UVB phototherapy.

Age of Onset↗
PubMed1997

Olmsted syndrome: report of a new case.

We report the case of a 20-year-old man, who was born with an intense erythema of the genital area, unresponsive to any treatment employed. When he was 9 months old, he presented with well-defined hyperkeratotic erythematous plaques around the mouth, eyes, nose, and perianal area, with similar plaques on the lateral aspect of the neck and axillae. At the same time the erythema of the genital area became hyperkeratotic. When he was 2 years old, he presented with a disabling palmoplantar keratoderma, initially focal, and later diffuse, also unresponsive to local or systemic treatments employed. The lesions have varied during the course of the disease without ever clearing completely. The axillary and inguinal plaques have shown spontaneous resolution on occasion. Six skin biopsies have been performed with no conclusive histological diagnosis of any of the typical disorders of keratinization. All treatments, topical and systemic, including etretinate and acitretin, have failed to improve the condition. We believe that this patient has Olmsted syndrome, a rare form of palmoplantar keratoderma with periorificial keratotic plaques.

Adult↗
PubMed2000

A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.

Palmoplantar keratodermas are a group of heterogeneous diseases characterized by thickening, and marked hyperkeratosis, of the epidermis of the palms and soles. Palmoplantar keratodermas can be divided into four major classes: diffuse, focal, punctate, and palmoplantar ectodermal dysplasias. All forms are genetic diseases inherited as autosomal dominant disorders. We studied a patient exhibiting a localized thickening of the skin in parts of the right palm and the right sole, following Blaschko's lines, that does not fit into any classes already described. We sequenced the keratin 16 cDNA derived from skin biopsy material from affected and non affected palms. The keratin 16 cDNA sequence from lesional epidermis showed a 12 base pair deletion (309-320del), which deletes codons 104-107. The mutation is predicted to delete four amino acids, GGFA, from the V1 domain of the keratin 16 polypeptide, close to the 1A domain. Full-length keratin 16 cDNA sequence derived from the unaffected palm was completely normal, consistent with a postzygotic mutation as is suggested by the mosaicism observed. We defined this new clinical entity, "unilateral palmoplantar verrucous nevus", rather than localized or focal epidermolytic palmoplantar keratodermas, as the lesions are present only on one side of the body and follow Blaschko's lines. This study is a report of a mosaic mutation in keratin 16 and also the association of a mutation in the V1 domain of a type I keratin associated with a human disease.

Adolescent↗
PubMed1994

Spiny keratoderma: case report, classification, and treatment of music box spine dermatoses.

The classification of palmoplantar lesions resembling music box spines is confusing, and nearly all attempts at treatment have been futile. We present the case of a 62-year-old white man with symptomatic music box spine lesions on his palms and fingers composed of parakeratotic columns over a hypogranular epidermis. Lesions and symptoms disappeared after a short course of 6 percent salicylic acid gel applied under occlusion. We suggest a classification scheme for this and similar-appearing conditions under the title spiny keratoderma, based on their histologic pattern (parakeratotic or hyperkeratotic) and anatomical location (palmoplantar, diffuse, or associated with epidermal appendages).

Epidermis↗
PubMed2004

A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.

BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited skin disorder characterized by diffuse yellow thickening of the skin of the palms and soles, sharply bordered with erythematous margins. Histologically and ultrastructurally, EPPK presents cytolysis of keratinocytes and abnormal aggregation of tonofilaments in the suprabasal layers of the epidermis. To date, 15 different mutations of the keratin 9 gene (KRT9) have been demonstrated to cause most cases of EPPK. OBJECTIVES: To identify the KRT9 mutation in a large Chinese family with EPPK. METHODS: Denaturing high-performance liquid chromatography (DHPLC), DNA sequencing and allele-specific polymerase chain reaction (AS-PCR) were used to screen exon 1 of the KRT9 gene for sequence variations. RESULTS: The DHPLC elution profiles of the DNA fragments amplified from the affected samples differed from those obtained from unaffected individuals, indicating that a sequence variation existed within the analysed fragment of KRT9. DNA sequencing revealed a novel insertion-deletion mutation in the exon 1 of KRT9, 497delAinsGGCT, resulting in the change of tyrosine(166) to tryptophan and leucine (Y166delinsWL). AS-PCR confirmed the mutation was not a common polymorphism. CONCLUSIONS: The results suggest the molecular basis of EPPK in this Chinese family and provide further evidence that mutations in the helix initiation motif of keratin 9 underlie Chinese EPPK.

Alleles↗
PubMed1995

Palmoplantar keratoderma and associated syndromes.

This article focuses on the current state of knowledge concerning the characterization and classification of palmoplantar keratoderma and associated syndromes. In addition, therapeutic options are discussed. Exact diagnosis enables dermatologists to give patients accurate genetic counseling and may help to detect underlying defects or proneness to cancer. Furthermore, precise classification of this disease facilitates the use of the most efficient therapeutic modalities. Important criteria for the classification of palmoplantar keratoderma are the mode of transmission, age at onset, and distribution of the keratoderma. The disorder may be diffuse or focal; it may be restricted to the palms and soles or also involve the dorsal aspects of the hands and feet. Psoriatic-like lesions in other parts of the body may occur in certain variants. The association of other signs and symptoms may provide diagnostic clues. Ultrastructural investigation will show diagnostic features in some types of palmoplantar keratoderma, and biochemical analysis may be helpful in the classification of keratoderma. In the future, the most accurate diagnosis will be the identification of the genetic defect and its chromosomal localization.

Diagnosis, Differential↗