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At least 19 recordsLinked to original sources
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↗
PubMed1979

Is palmoplantar keratoderma of Greither's type a separate nosologic entity?

17 patients with palmoplantar keratoderma (PPK) were detected among 48 investigated members of the clan O. 5 of these 17 patients had a well-expressed hyperkeratosis on their knees. In one family hyperkeratosis of the knees was inherited as a dominant feature, but in two other families it was not. The observation was made that the expressivity of the disease was fading: while there were 15 PPK patients among the 25 investigated members in the generations II and III, there were only 2 patients among 22 members in the generations IV and V. In addition to PPK incontinentia pigmenti was diagnosed in two instances and pollex duplex in one. The question of the identity of PPK of Greither's type is shortly discussed.

Female↗
PubMed1978

Epidermolytic hereditary palmoplantar keratoderma. Report of a family and treatment with an oral aromatic retinoid.

This study describes a family of 30 people in which 14 members have hereditary epidermolytic palmoplantar keratoderma. Four patients were treated with an oral aromatic retinoid for up to 5 months. They responded in a uniform and dramatic way: 10-14 days after the onset of therapy, the hyperkeratotic horny layer was sequestered in large sheets resulting in normal appearing skin and restoration of normal surface sensitivity. Biopsies revealed that the underlying disorder of keratinization had remained unchanged. Treatment with the retinoid had to be discontinued as the sensitivity and vulnerability restricted normal function of hands and feet.

Adult↗
PubMed1978

[Papillon-lefèvre syndrome].

Papillon-Lefèvre syndrome in a 13-year-old boy is described. His two great-grandfathers were first-degree cousins (consanguinity). However, no other case of the syndrome nor of palmoplantar keratoderma exists in the family. The palmoplantar keratoderma, which had started before becoming 1 year of age, is usually more pronounced during spring and autumn as well as during feverish diseases. However, it is of the transgradient type and is not necessarily very severe. The loss of the deciduous and permanent teeth was a consequence of severe juvenile parodontitis and of bone destruction. The boy could extract his teeth easily by himself and has total prothesis since the age of 14 years. Every treatment was unsuccessful.

Adolescent↗
PubMedDate not supplied

Congenital perceptive hearing loss and atopic dermatitis.

Two brothers were suffering from perceptive hearing loss, atopic dermatitis and mild palmophantar keratoderma. There was a predisposition to atopic disease in the maternal family, and palmoplantar keratosis as a dominant trait in the paternal family. Atopoc dermatitis and palmoplantar keratoderma separately have been reported to co-exist with hearing loss, but a combination of all three has not so far been reported.

Adolescent↗
PubMed1979

Congenital poikiloderma with traumatic bulla formation, anhidrosisi, and keratoderma.

A 14-year-old boy with congenital poikiloderma had anhidrosis, palmoplantar-pitted keratoderma, traumatic bulla formation, and defective dentition, but no abnormalities of the hair, nails, or eyes. This patient was similar in some respects to others reported as having dermatopathia pigmentosa reticularis, the Franceschetti-Jadassohn syndrome, the Mendes da Costa syndrome, and acrokeratotic poikiloderma.

Adolescent↗
PubMed1977

[Delayed manifestation of Costa's acrokeratoelastosis].

Acrokeratoelastoidosis, first described in 1952 bei O.G. Costa, belongs to the group of diffuse palmoplantar keratoses without associated symptoms. Probably it is an autosomal dominant trait. We observed a 49 year old female who has noticed her typical skin lesions for 2 years. The most marked histological features are proliferative hyperkeratosis, an almost complete lack of the fine subepithelial elastic fibre network and a marked rarefication of the coarse elastic fibres in the dermis.

Acrodermatitis↗
PubMed1977

[Medico-genetic study of the population of Uzbekistan. III. Phenotypical assortativity as a factor in population structure (using palmoplantar hyperkeratosis and vitiligo as examples)].

The article comprises the examples of homophenogamic marriages between persons with a rare hereditary dominant character, hand-palm and foot-sole hyperkeratosis, leading to the increase of inbreeding intensity in the population. On the contrary, homophenogamic marriages between persons with vitiligo, a considerably more widespread character, lead to the decrease of the degree of inbreeding in a population, since they take place between partners coming from different districts of the region.

Female↗
PubMed1977

Hidrotic ectodermal dysplasia: study of a large Chinese pedigree.

Hidrotic ectodermaldysplasia was found, to our knowledge, for the first time in a Chinese family in Malaysia, and it affected 15 members in five generations. The disease, which is transmitted as a non-sex-linked autosomal dominant trait, presumably originated from southern China. All 15 members had the typical nail, hair, and skin lesions, and we observed three different types of nail defects. Scalp alopeica was more extensive in the female members while keratoderma of the palms and soles was more notable in the male members. The nail and skin lesions also became severer with age. Except for the infectious eczematoid dermatitis present in the propositus, none had other skin or systemic disorders. All were relatively healthy and had normal life expectancies;

Adult↗
PubMed1977

Spinal myoclonus with dermal and retinal changes affected by myelitis.

Intermittent, rhythmical myoclonus that had been present in the lower limbs of a 68-year-old man for more than 50 years was obviously increased in frequency during the period when the patients suffered from acute transverse myelitis. The same type of movements were readily induced by irrigation of the urinary bladder during the period of paraparesis. Removal of some possible inhibitory influences from a myoclonic focus in the lower spinal cord with resulting heightened excitability was thought to be the mechanism of these phenomena, although direct irritation of the myoclonic focus by the inflammatory process was also conceivable. The patient had keratosis palmoplantaris hereditaria and retinal pigment degeneration, suggesting the possibility of a congenital neuroectodermal dysplasia.

Action Potentials↗
PubMed1976

The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.

The Richner-Hanhart syndrome with tyrosinemia was recognized in a mentally retarded adolescent boy. The clinical manifestations, including hyperkeratosis of the volar aspects of the hands and feet, thickening of the conjunctival epithelium, and corneal opacities, as well as biochemical aberrations of tyrosine metabolism, responded to specific treatment with a diet low in phenylalanine and tyrosine. Light and electron microscopical studies illustrate the underlying conjunctival pathologic changes.

Adolescent↗
PubMed1975

Thymic origin of abnormal lymphoid cells in Sézary syndrome.

A patient with a 5-year history of pruritus and progressive and generalized erythroderma was found to have abnormal lymphocytes in the peripheral blood and mononuclear dermal infiltrate, all of which are features consistent with those described in Sézary syndrome. Systemic chemotherapy produced an almost complete resolution of skin lesions and pruritus. Serial studies on the abnormal cells included responses to phytohemagglutinin, cytogenetics, and immunofluorescence tests for identification of B or T lymphocytes. The abnormal cells demonstrated hyperdiploidy; the ratio of B to T cells fell whenever abnormal lymphocytes appeared in the peripheral blood, and returned to normal when abnormal cells disappeared from circulation. Lymphocytes separated from a skin nodule labeled as T cells. We conclude that the abnormal lymphocytes in this patient are of thymic origin.

Biopsy↗
PubMed1978

A genetic analysis of the Papillon-Lefèvre syndrome in a Jewish family from Cochin.

The Papillon-Lefèvre syndrome (PLS) is segregating in a large kindred of a Jewish isolate originating from Cochin, India. The frequency of the gene responsible for PLS among the Cochin Jews, 0.1, was estimated from the number of unrelated carriers in the isolate who married into the kindred. The obvious discrepancy between this apparently high gene frequency and the total absence of PLS in other kindreds of the isolate suggests that the syndrome may not behave as a simple autosomal recessive trait.

Female↗
PubMed1976

Sézary's syndrome: a cytogenetic, cytophotometric and autoradiographic study.

Cytophotometric, cytogenetic, and autoradiographic studies were performed in cells of three patients suffering from clinically diagnosed Sézary's syndrome with erythroderma and the presence of abnormal lymphoid cells in the peripheral blood, skin, bone marrow and lymph-nodes. Feulgen DNA cytophotometry of cells in the peripheral blood and skin lesions showed marked aneuploidy and tetraploidy. Multiple translocations were identified with a G-banding technique. The chromosomal abnormalities varied widely between the patients, but C and D group chromosomes were more frequently involved than others. All breakpoints of the translocations were localised in the centromeric region. Autoradiography of blood and skin samples revealed many labelled cells in the skin and a lower number in the blood, indicating cell proliferation in the skin. It is concluded that the pathological cells occurring in the Sézary syndrome are abnormal lymphoid cells with a tendency to proliferate in the dermis. The variability observed between and in the patients is in all probability due to a difference in the degree of dedifferentiation.

Aged↗