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PubMed2003

Annular epidermolytic ichthyosis.

A 21-year-old woman presented to the Charles C. Harris Skin and Cancer Pavilion with a life-long history of palmoplantar keratoderma that was accompanied by episodic flares of polycyclic psoriasiform patches diffusely over the rest of her body. A biopsy specimen of a representative skin lesion showed epidermolytic hyperkeratosis. The particular phenotype that this patient exhibited has been reported in only seven families previously in the literature. Mutations in keratin 1 and 10 have been identified in these patients and are similar to those mutations in patients with classic epidermolytic hyperkeratosis.

Adult↗
PubMed1994

Hereditary palmoplantar keratoderma and dermatophytosis in the northernmost county of Sweden (Norrbotten).

Clinical reports of hereditary palmoplantar keratoderma are generally based on a limited number of patients. In 1967 the prevalence in the northernmost county of Sweden (Norrbotten) was shown to be 0.55%. In 1982 it was possible to trace half of the original propositi from that study. Among these families, a severe clinical form with a presumed recessive inheritance could be distinguished. The clinical pictures in relatives of the original propositi were described, and other diseases were listed together with those in patients from previously performed studies. The frequency of dermatophytosis was 36.2%, which was equal to a prevalence of 37.6%. T. mentagrophytes occurred significantly more often and immunological factors, such as increased presence of blood group A, specific dermatophyte IgG antibodies, precipitating antibodies and an immunological in vitro reaction to keratin, supported differences in the distribution of dermatophytes. However, the amount of keratin was considered the most important factor for the affinity of dermatophytes to the palms and soles. A vesicular eruption along the hyperkeratotic border and a mononuclear cell infiltrate were often reported. Such reactions were interpreted as immunological reactions to dermatophytosis. Scaling and fissuring were considered clinical signs of dermatophyte infections and not a part of the originally reported clinical picture. Results of the histopathological study corresponded to previously reported descriptions of the Unna-Thost variety. However, it has recently been reported that the histopathological picture of this variety was based on histopathological features of epidermolytic palmoplantar keratoderma. The existence on the Continent of the Unna-Thost variety was therefore questioned. Histopathological features of epidermolytic palmoplantar keratoderma were not found in the County of Norrbotten and the designation "Diffuse HPPK type Norrbotten" has therefore been proposed. The histopathological picture of the presumed recessive variety did not differ from that of the dominant variety but ultrastructural characteristics differentiated it from Mal de Meleda and the dominant variety. It was therefore concluded that a new variety with a presumed recessive inheritance was found.

ABO Blood-Group System↗
PubMed1997

A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma.

Keratin 9 mutation was examined in a Japanese kindred of epidermolytic palmoplantar keratoderma (EPPK), which is a dominantly inherited autosomal disorder of keratinization characterized by diffuse thickening of the palms and soles and by epidermolytic hyperkeratosis histologically. We report herein a novel mutation, a C --> G transversion at nucleotide position 541 that converts a leucine residue (CTC) to a valine (GTC) at codon 159. As in all other reported cases of keratin 9 mutation in EPPK, this mutation lies within the highly conserved coil 1A of the rod domain, which is considered to play a role in the correct alignment of the coiled-coil molecules.

Amino Acid Sequence↗
PubMed1998

Hereditary epidermolytic palmoplantar keratoderma (Vörner type) in a family with Ehlers-Danlos syndrome.

We describe a kindred in whom epidermolytic palmoplantar keratoderma occurred in association with Ehlers-Danlos syndrome type III (benign hypermobility syndrome). This kindred consisted of 27 members of four generations, 14 of whom had palmoplantar keratoderma (PPK). Of those who had palmoplantar keratoderma, 6 had Ehlers-Danlos type III (EDS II). The proband presented with diffuse, symmetrical hyperkeratotic plaques that were yellow and sharply demarcated, covering the entire palms and soles, in addition to marked large and small joint flexibility and skin hyperextensibility. A biopsy specimen from the palm revealed features of epidermolytic hyperkeratosis with acanthosis. To our knowledge, this is the first report of PPK in a family with Ehlers-Danlos syndrome. Linkage analysis of these two clinical traits showed that the genes responsible for PPK and EDS III are not closely linked, and therefore are not immediately adjacent. However, linkage at greater genetic distances could not be excluded.

Adult↗
PubMed2025

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

IMPORTANCE: Palmoplantar keratoderma poses diagnostic challenges due to its clinical and genetic heterogeneity, and knowledge on the value of systematic genetic testing on clinically well-described patient cohorts is sparse. OBJECTIVE: To improve knowledge of the clinical and genetic spectrum of patients with palmoplantar keratoderma. DESIGN, SETTING, AND PARTICIPANTS: This cohort study prospectively recruited patients and affected family members with palmoplantar keratoderma between September 1, 2016, and December 31, 2022. Patients were recruited from private practitioners in dermatology and dermatology departments in Denmark. Study participants were patients 18 years or older either newly diagnosed with palmoplantar keratoderma or being followed up for the disease at referral centers. MAIN OUTCOMES AND MEASURES: Phenotypes and clinical subtypes were classified. Genetic testing was performed by whole-exome or genome sequencing using an in silico panel containing genes related to palmoplantar keratoderma, or by Sanger sequencing for specific variants. Descriptive analysis, such as proportions and frequency, were used to describe clinical characteristics, distribution of disease-causing variants, and genotype-phenotype associations. RESULTS: This study included 142 study participants from 76 families (90 [63%] female; median [range] age, 52 [18-92] years). Clinical subtypes included 42 punctate (55%), 26 diffuse (34%), 5 focal (7%), and 3 striate (4%). A genetic diagnosis was found in 63 of 76 families (83%), including 27 disease-causing variants within 13 different genes: AAGAB (n = 39), DSG1 (n = 8), KRT1 (n = 3), DSP (n = 2), KRT9 (n = 2), AQP5 (n = 2), KRT16 (n = 1), SERPINA12 (n = 1), ABCA12 (n = 1), COL7A1 (n = 1), CARD14 (n = 1), DST (n = 1), and LORICRIN (n = 1). All participants with AAGAB variants presented with punctate palmoplantar keratoderma, showing a clear genotype-phenotype correlation. The other subtypes (diffuse, focal, and striate) proved more challenging to clinically subclassify, and disease-causing variants were identified in 12 genes, contributing to more complex genotype-phenotype patterns. Patients with palmoplantar keratoderma due to DSP variants were found, which is important to identify because of an associated risk of cardiomyopathy. CONCLUSION AND RELEVANCE: This study provides novel insights into the clinical and genetic spectrum of patients with palmoplantar keratoderma. It demonstrates the value of genetic testing for accurate diagnoses and to distinguish between different subtypes. The established and well-described cohort lays the foundation for future research in palmoplantar keratoderma.

Humans↗
PubMed1984

Olmsted syndrome--congenital palmoplantar and periorificial keratoderma.

We are reporting the third case of the Olmsted syndrome, an entity that has received little attention in the medical literature. The syndrome consists of congenital diffuse, sharply marginated keratoderma of the palms and soles, onychodystrophy , constrictions of digits, and periorificial keratoses. Our patient, in addition, had congenital universal alopecia, absence of a premolar tooth, leukokeratosis of oral tissue, and hyperlaxity of the joints. The differential diagnosis includes hidrotic ectodermal dysplasia of the Clouston type, pachyonychia congenita, acrodermatitis enteropathica, keratoma hereditarium mutilans of Vohwinkel , mal de Meleda , and other forms of palmoplantar keratodermas . This patient had originally been reported as having acrodermatitis enteropathica, a condition with which the Olmsted syndrome can easily be confused.

Adult↗
PubMed2005

Two families with Greither's syndrome caused by a keratin 1 mutation.

Transgrediens et progrediens palmoplantar keratoderma, known as Greither's syndrome, was originally described in 1952 and is characterized by diffuse keratoderma of the palms and soles, extending to the back aspects (transgrediens) and involving the skin over the Achilles' tendon. Patchy hyperkeratosis also develops on the shins, knees, elbows, and sometimes on the skin flexures. We describe two unrelated families affected with Greither's syndrome, in which the same dominant missense mutation gave rise to the amino acid change N188S in K1. The previously reported cases of Greither's syndrome showed phenotypic variability suggestive of different underlying gene defects. Our findings suggest that at least some cases of Greither's syndrome are caused by keratin mutations.

Adolescent↗
PubMed2002

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance. Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas diffuse alopecia is only seen in dermatopathia pigmentosa reticularis. We studied a large Swiss family with Naegeli-Franceschetti-Jadassohn syndrome originally described by Naegeli in 1927 and assessed linkage to chromosome 17q, which was proposed to harbor the Naegeli-Franceschetti-Jadassohn syndrome gene. Our results considerably narrow the Naegeli-Franceschetti-Jadassohn syndrome gene region from 27 cM to 6 cM flanked by D17S933 and D17S934 with a maximum multipoint LOD score of 2.7 at marker locus D17S800. In addition, we studied a small family with dermatopathia pigmentosa reticularis, and our linkage data suggest that dermatopathia pigmentosa reticularis may map to the same chromosomal region. The Naegeli-Franceschetti-Jadassohn syndrome critical interval spans approximately 5.4 Mb and contains a minimum of 45 distinct genes. We scrutinized 13 new prime candidates in addition to five genes previously examined, established the genomic organization of 10 of these genes, and excluded all of them by mutation analysis. Moreover, we identified a cDNA (KRT24) encoding a new keratin protein that bears high similarity to the type I keratins and displays a unique expression profile. No pathogenic mutations were identified in this novel gene either, however. In summary, our results substantially refine the Naegeli-Franceschetti-Jadassohn syndrome region and will aid in identifying a gene that is critical for ontogenesis of multiple ectodermal tissues.

Amino Acid Sequence↗
PubMedDate not supplied

Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.

Epidermolytic palmoplantar keratoderma (EPPK) (Vörner-Unna-Thost) is an autosomal dominantly inherited skin disease of unknown etiology characterized by diffuse severe hyperkeratosis of the palms and soles and, histologically, by cellular degeneration. We have mapped a gene for EPPK to chromosome 17q11-q23, with linkage analysis using microsatellite DNA-polymorphisms, in a single large family of 7 generations. A maximum lod score of z = 6.66 was obtained with the probe D17S579 at a recombination fraction of theta = 0.00. This locus maps to the same region as the type I (acidic) keratin gene cluster. Keratins, members of the intermediate filament family, the major proteins of the cytoskeleton in epidermis, are differentially expressed in a tissue-specific manner. One acidic keratin, keratin 9 (KRT9), is expressed only in the terminally differentiated epidermis of palms and soles. The KRT9 gene has not yet been cloned; however, since the genes for most acidic keratins are clustered, it is highly probable that it too will map to this region. We therefore propose KRT9 as the candidate gene for EPPK.

Chromosomes, Human, Pair 17↗
PubMed1978

Patterns of cutaneous lymphomas. Histological, enzyme cytochemical, and immunological typing of lymphoreticular proliferations in the skin.

During recent years there has been much progress in interpreting the histo- and cytomorphology of lymphoreticular proliferations by means of enzyme cytochemical (cell typing by hydrolytic enzymes) and immunological (B- and T-cell differentiation using surface markers and functional tests) methods. Applying these methods in skin biopsies from 101 patients clinically suspected of having cutaneous lymphomas, patterns of lymphoreticular infiltrations in the skin have been elaborated. Based primarily on the 'Kiel' classification, low-grade and high-grade malignant lymphomas, pseudolymphomas and 'histiocytic lymphomas' can be differentiated in the skin; however, there still remain some hitherto unclassifiable lymphoreticular proliferations. In the low-grade malignant lymphomas of the skin, mycosis fungoides, Sézary's syndrome and Pagetoid reticulosis histologically display a pattern which is typical for T-cell infiltrations in the skin, whereas most of the 'malignant reticuloses', including immunocytoma, show a B-cell pattern. Erythrocyte antibody complement rosette fixation on cryostat sections is positive only in cutaneous pseudolymphomas whereas no fixation is seen in malignant B-cell lymphomas of the skin.

B-Lymphocytes↗
PubMed2005

A case of Schöpf-Schulz-Passarge syndrome.

Schöpf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia characterized by hypodontia, hypotrichosis, nail dystrophy, palmoplantar keratoderma, and periocular and eyelid margin apocrine hidrocystomas. Several other skin tumours have been described in association with this syndrome, in particular, multiple palmoplantar eccrine syringofibroadenoma (ESFA). We report a case of SSPS with diffuse palmoplantar hyperkeratosis, which was shown by histology and immunocytochemistry to be due to ESFA.

Aged↗
PubMed2006

[Mal de Meleda. 16 cases].

Mal de Meleda is a recessive transgression palmoplantar keratoderma. We report the epidemiological, clinical and progressiveness aspects of the disease in 16 patients of a large consanguineous tunisian family. The age ranged from 3 to 90 years. Nine were male and 7 female patients. Onset in early infancy was characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Thickness of the dorsal aspect of the fingers started in childhood. Extension of hyperkeratosis to the dorsal of the hand were reported only in adults and usually precede the involvement of the feet Palmoplantar hyperhidrosis with fetid odor between the toes was frequently seen as well as conical distal phalanges. In some adults keratoderma gave contracture of the fingers leading to limitation of movements Mal de Meleda must be differentiated from other recessive palmoplantar keratoderma such as Papillon-Lefévre syndrome and Mal de Naxos. the remaining inherited palmoplantar keratoderma being autosomal dominant. Mal de Meleda is a rare disease but is still relatively frequent in some tunisian regions, due to the high rate of consanguinity Mal de Meleda remains an afflicting and disabling disease.

Adolescent↗
PubMed2002

Palmoplantar keratoderma and oral leucoplakia with cutaneous horn of the lips.

The inherited palmoplantar keratodermas (PPK) may be associated with a wide variety of other ectodermal abnormalities. The coexistence of PPK and leucoplakia may indicate the increased risk of oesophageal carcinoma in adult life. Cutaneous horn may develop over benign, precancerous, as well as malignant lesions, and frequently may be associated with actinic keratoses and Bowen's disease. On the other hand, the relationship of cutaneous horn and leucoplakia has been the subject of only a single case report. We present a case of PPK and diffuse oral leucokeratosis associated with relapsing cutaneous horn of the lips.

Adult↗
PubMed1995

Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.

The palmoplantar keratodermas (PPK) are a group of skin diseases characterized by thickening of the skin of the palms and soles due to abnormal keratinization. We have performed linkage analysis on families affected with three distinct forms of non-epidermolytic PPK (NEPPK): focal, diffuse and punctate. Genetic heterogeneity was demonstrated, with focal NEPPK linked to the region on chromosome 17 harbouring the type I keratin cluster, diffuse NEPPK linked to the region on chromosome 12 containing the type II keratin cluster, and in the punctate NEPPK pedigrees, linkage was excluded to both of these keratin clusters. This study provides evidence for genetic differences between these forms of NEPPK and also between NEPPK and epidermolytic PPK (EPPK) in which mutations in keratin 9 have been demonstrated.

Chromosome Mapping↗