Palmoplantar keratoderma

A 70-year-old man, a known case of diabetes mellitus since 10 years ago, presented with lower limb swelling and dyspnea on exertion for one month and dysphagia to solids associated with early satiety for 2 weeks. The patient had palmoplantar keratosis (PPK), which was present since birth with a similar family history. The patient was admitted to rule out esophageal malignancy. Upper gastrointestinal gastroscopy revealed esophagitis and esophageal melanosis with gastric mucosal erythema. Biopsies samples were taken...

Hereditary palmoplantar keratodermas (PPKs) are a clinically and genetically heterogeneous group of disorders characterized by excessive epidermal thickening of palms and soles. Several genes have been associated with PPK including PERP , a gene encoding a crucial component of desmosomes that has been associated with dominant and recessive keratoderma. We report a patient with recessive erythrokeratoderma (EK) in which whole exome sequencing (WES) prioritized by human phenotype ontology (HPO) terms revealed the presence of the novel variant c...

We examined the effect of a dietary seaweed extract-sulfated xylorhamnoglucuronan (SXRG84)-on individuals with inflammatory skin conditions. A subgroup analysis of a larger trial was undertaken, where 44 participants with skin conditions were enrolled in a double-blind placebo-controlled crossover design. Subjects ingested either SXRG84 extract (2 g/day) for six weeks and placebo for six weeks, or vice versa. At baseline, six- and twelve-weeks inflammatory markers and the gut microbiota were assessed, as well as skin assessments using the dermatology quality of life index (DQLI), psoriasis area severity index (PASI) and visual analogue scales (VAS)...

Haim-Munk syndrome and Papillon-Lefèvre syndrome are rare genodermatoses caused by mutations in the cathepsin C (CTSC) gene. They both cause palmoplantar keratoderma and are associated with periodontitis. Existing literature reports additional Haim-Munk syndrome characteristics including pes planus, radiographic deformity of the fingers and arachnodactyly, whilst Papillon-Lefèvre syndrome is associated with intracranial calcification and susceptibility to infection. We report a variant in CTSC which has previously been described in Papillon-Lefèvre syndrome but has not previously been reported in Haim-Munk syndrome...

Epidermolytic palmoplantar keratoderma (EPPK), a highly penetrant autosomal dominant genodermatosis, is characterized by diffuse keratoses on palmplantar epidermis. The keratin 9 gene (KRT9) is responsible for EPPK. To date, phenotypic therapy is the primary treatment for EPPK. Because KRT9 pairs with a type II keratin-binding partner to function in epidermis, identifying the interaction partner is an essential first step in revealing EPPK pathogenesis and its fundamental treatment. In this study, we proved that keratin 6C (KRT6C) is a probable hereterodimer partner for KRT9...

Congenital cataract is the most common cause of lifelong visual loss in children worldwide, which has significant genotypic and phenotypic heterogeneity. The LSS gene encodes lanosterol synthase (LSS), which acts on the cholesterol biosynthesis pathway by converting (S)-2,3-oxidosqualene to lanosterol. The biallelic pathogenic variants in the LSS gene were found in congenital cataract, Alopecia-intellectual disability syndrome, hypotrichosis simplex, and mutilating palmoplantar keratoderma. In this study, we reported the first congenital nuclear cataract combined with hypotrichosis in a 12-year-old boy with biallelic LSS variants (c...

Palmoplantar keratoderma is a set of skin diseases with hyperkeratotic thickening of palms and soles which are characteristic of these heterogeneous group of keratinization disorders. Various genetic mutations, autosomal dominant or recessive, have been identified which may triggerpalmoplantar keratoderma, as KRT9 (Keratin 9), KRT1 (Keratin1), AQP5 (Aquaporin), SERPINB 7 (serine protease inhibitor). The identification of causal mutations is extremely important for the correct diagnosis. Here, we report the case of a family affected from Palmoplantar keratoderma caused by autosomal dominant KRT1 mutations (Unna-Thost disease)...

BACKGROUND: Mal de Meleda is an autosomal recessive palmoplantar keratoderma, with SLURP1 identified as the pathogenic gene responsible. Although over 20 mutations in SLURP1 have been reported, only the mutation c.256G > A (p.G87R) has been detected in Chinese patients. Here, we report a novel heterozygous SLURP1 mutation in a Chinese family. METHODS: We assessed the clinical manifestations of two Chinese patients with Mal de Meleda and collected specimens from the patients and other family members for whole-exome and Sanger sequencing...

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BACKGROUND: Abnormal function of the epidermal growth factor receptor (EGFR) has been recently shown to underlie various disorders of cornification. OBJECTIVES: Here we aimed at delineating the genetic basis of a novel dominant form of palmoplantar keratoderma (PPK). METHODS: We used whole exome and direct sequencing, RT-qPCR, protein modelling, confocal immunofluorescence microscopy, immunoblotting, three-dimensional skin equivalents and an enzyme activity assays...

BACKGROUND: Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene. OBJECTIVE: The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers. METHODS: In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1...

Introduction Hyperkeratotic lesions on the palms and soles are one of the most frequent clinical presentations encountered in dermatological practice, with a myriad of underlying etiologies that closely resemble one another and are clinically indistinguishable. Histopathological examination is the tool used by dermatologists to arrive at a final diagnosis, but it is invasive and not feasible under all circumstances. Dermoscopy is a new age, increasingly popular, noninvasive diagnostic technique of great value that is used to diagnose underlying etiology by acting as a bridge between clinical and histopathological pictures...

Pityriasis rubra pilaris is a rare inflammatory dermatosis characterized by orange-red confluent plaques, hyperkeratotic follicular papules, palmoplantar keratoderma, and, in some cases, erythroderma. The etiology of pityriasis rubra pilaris is unclear. This condition is often treated with oral retinoids and topical corticosteroids, and more recently, biological agents have become the mainstay of treatment. However, there is a paucity of high-quality evidence on the safety and effectiveness of these agents, and the disease often remains refractory to therapy...

BACKGROUND: Pathogenic variants in DSP associate with cardiac and cutaneous manifestations including arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, curly or wavy hair, and palmoplantar keratoderma (PPK). Episodes of myocardial inflammation associated with DSP cardiomyopathy might be confused in clinical work with myocarditis of other etiologies such as viral. Cardiac magnetic resonance imaging (CMR) may help in differential diagnosis. METHODS AND RESULTS: This study comprised 49 Finnish patients: 34 participants from families with suspected DSP cardiomyopathy (9 index patients and 25 family members) and 15 patients with myocarditis...

We report on the treatment of a 22-year-old female patient with an acute soft tissue infection in the area of an amniotic band due to palmoplantar keratoderma congenital alopecia syndrome (PPKCA) type II, a very rare genodermatosis with less than 20 cases described in literature. An acute soft tissue infection distal from the pre-existing constriction ring with hyperkeratosis on the right small finger led to a decompensation of the venous and lymphatic drain with imminent loss of the finger. Due to urgent surgical treatment with decompression and debridement of the dorsal soft tissue infection, microsurgical circular resection of the constriction ring and primary wound closure the finger could be preserved...

The association of cutaneous and extracutaneous abnormalities is a common phenomenon, widely described in a variety of genetic syndromes. Nevertheless, yet undescribed syndromic combinations may still exist. Herein we present a case report of a patient who was admitted to the Dermatology Department due to multiple basal cell carcinomas arising from nevus sebaceous. In addition to the cutaneous malignancies, the patient presented with palmoplantar keratoderma, prurigo nodularis, hypothyroidism, multiple lumbar abnormalities, uterine myoma, an ovarian cyst, and highly dysplastic colon adenoma...

Mutilating palmoplantar keratoderma (PPK) is a heterogeneous genetic disease that poses enormous challenges to clinical diagnosis and genetic counseling. Lanosterol synthase (LSS) gene encodes LSS involved in the biosynthesis pathway of cholesterol. Biallelic mutations in LSS were found to be related to diseases such as cataracts, hypotrichosis and palmoplantar keratoderma-congenital alopecia syndrome. The aim of this study was to investigate the contribution of the LSS mutation to mutilating PPK in a Chinese patient...

Palmoplantar keratoderma (PPK) is an umbrella term for a group of heterogeneous disorders, acquired or inherited, that are characterized by hyperkeratosis of palmar and/or plantar surfaces. Punctate PPK (PPPK) has been shown to have an autosomal dominant pattern of inheritance. It is linked with two loci on chromosomes 8q24.13-8q24.21 and 15q22-15q24. In type 1 PPPK, also known as Buschke-Fischer-Brauer disease, loss-of-function mutations in either the AAGAB or the COL14A1 genes have been associated with the disorder...

Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin ( DSP ) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old man presenting with a history of cardiomyopathy with recurrent sustained ventricular tachycardia and palmoplantar keratosis. The cardiological evaluation showed biventricular cardiomyopathy, and repeated genetic testing identified a novel DSP variant...

BACKGROUND: A high proportion of patients with Cystic Fibrosis (CF) also present the rare skin disease aquagenic palmoplantar keratoderma. A possible link between this condition and absence of a functional CF Transmembrane conductance Regulator protein in the sweat acinus and collecting duct remains unknown. METHODS: In-depth characterization of sweat proteome profiles was performed in 25 CF patients compared to 12 healthy controls. A 20 μL sweat sample was collected after pilocarpine iontophoresis and liquid chromatography tandem mass spectrometry (LC-MS/MS) proteomic analysis was performed...