Palmo-plantar hyperkeratosis associated with HTLV-1 infection: a case report.

BACKGROUND: Palmoplantar hyperkeratosis is a cutaneous manifestation that had not been clearly associated with infection by the human T-cell lymphotropic virus, which is a retrovirus that in most cases does not develop clinical pathologies and its symptoms may be undetected. The skin is one of the most affected organs, however until now only seborrheic dermatitis, xerosis/ichthyosis and infective dermatitis associated with HTLV-1 have been described as cutaneous clinical manifestations of this disease. CASE PRESENTATION: We present the case of a 36-year-old male patient with serologically documented HTLV-1 infection, who presented symptoms of diarrhea, malabsorption due to Strongyloides stercoralis, and in whom a physical examination revealed an association with generalized xerosis and palmoplantar keratoderma confirmed by skin biopsy. Other infectious etiologies and malignancy were ruled out. This clinical manifestation was managed with dermal hydration, and skin care which improved the thickened skin and make it less noticeable. CONCLUSIONS: According to our experience, this is the first reported case of palmoplantar keratoderma associated with a human lymphotropic virus infection. This is a skin manifestation that has not been confirmed in conjunction with HTLV-I before. This implies that palmoplantar keratoderma is a new clinical manifestation of this infection, that should be considered in the initial approach of patients in endemic areas with these dermatological characteristics.

Drugs Associated With the Development of Palmoplantar Keratoderma: A Systematic Review.

BACKGROUND: Palmoplantar keratoderma (PPK) are a heterogenous group of hereditary and acquired disorders that are characterized by excessive epidermal thickening of the palms and/or soles. PPK has been described as a rare adverse event for some medications. The aim of this systematic review was to summarize outcomes in PPK associated with various medications. This data will assist dermatologists and other healthcare providers treating patients with drug-induced PPK. METHODS: EMBASE and MEDLINE databases were searched in accordance with PRISMA guidelines using the keyword "palmoplantar keratoderma." 40 studies met the inclusion criteria. RESULTS: A total of 247 patients (mean age: 57.0 years) were included in the analysis. Among patients whose sex was reported, 60.3% (n = 35/58) were male. PPK most frequently developed after treatment with BRAF inhibitors (73.7%, n = 182/247), BRAF inhibitors combined with MEK1/2 inhibitors (15.4%, n = 38/247), tyrosine kinase inhibitors (TKIs) (3.2%, n = 8/247), or chemotherapy (2.4%, n = 6/247). The mean latency period between initiation of the drug and onset of PPK was 7.6 months (range: 0.25-90 months). Improvement of PPK was reported in 24 cases, with 50% (n = 12/24) achieving complete resolution and 50% (n = 12/24) achieving partial resolution. All patients who achieved complete resolution stopped the suspected drug, with a mean resolution period of 2.4 months (range: 2 weeks-6 months). The most common treatments for PPK were keratolytic treatments (n = 10) and topical corticosteroids (n = 4). CONCLUSIONS: PPK was most frequently associated with targeted kinase inhibitors, specifically BRAF, MEK1/2, and tyrosine kinase inhibitors.

Diagnosis and Management of Inherited Palmoplantar Keratodermas.

Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin. Palmoplantar keratodermas are grouped depending on the morphology of the keratoderma into diffuse, focal/striate or papular/punctate. Some palmoplantar keratodermas just affect the skin of the palms and soles and others have associated syndromic features which include changes in hair, teeth, nails, hearing loss or cardiomyopathy. Next generation sequencing has helped discover genes involved in many of these conditions and has led to reclassification of some palmoplantar keratodermas. In this review, we discuss the diagnostic features of palmoplantar keratodermas and management options.

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas - Diagnostic algorithm and principles of therapy.

Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development. Other genetic diseases, which may show palmoplantar involvement, such as selected subtypes of hereditary epidermolysis bullosa, various hereditary ichthyoses and other keratinization disorders, several ectodermal dysplasias and some multisystem genetic disorders, are also briefly summarized. PPK diagnosis is based on inheritance pattern, age at onset, morphology, distribution and severity of hyperkeratosis, pattern of additional dermatological and systemic manifestations and laboratory findings. Molecular analysis is at present the gold standard to confirm the diagnosis in PPK forms due to mutations in known causative genes. No specific and curative therapy is currently available for PPKs which highly impair patients' quality of life. Topical treatments are symptomatic and offer only temporary relief. Among systemic treatments, retinoids improve disease symptoms in the majority of patients.

Cutaneous disorders characterized by elastolysis or loss of elastic tissue.

Along with collagen, elastic fibers are integral components of cutaneous connective tissue. A decrease in elastic fibers or loss thereof has been described in a number of clinically distinct skin diseases, both hereditary and acquired. In disorders associated with inflammation, elastophagocytosis is an important histological hallmark. Treatment is generally difficult.

A case series of verrucae vulgares mimicking hyperkeratosis in individuals with diabetic foot ulcers.

BACKGROUND: Diabetic foot ulcers are a common complication in the advanced stages of diabetes mellitus. Certain lesions may be refractory to usual treatments with prolonged healing. In these cases, differential diagnoses to classical ulcers should be considered. Although plantar warts are a common and easy-to-diagnose finding in the general population, diagnosis can be challenging in people with diabetic foot ulcers, as they mimic hyperkeratosis in these people. CASE REPORT: We report seven cases of people with diabetic foot ulcers and verrucae vulgares mimicking treatment-refractory hyperkeratosis, presenting to our centre between 2014 and 2016. Diagnosis was aided by the clinical presentation, followed by dermoscopy and punch biopsy. Treatment included topical application of 5-fluoruracil and salicylic acid (four people), cryotherapy (three people) and surgical excision (three people), all in combination with local pressure offloading. In five people, the verrucae were completely removed after a mean treatment period of 9.4 months; two individuals were lost to follow-up. CONCLUSION: Verrucae may be more common in people with diabetic foot lesions and polyneuropathy than generally assumed. Typical findings include small, pinhead-sized bleedings within and surrounding hyperkeratous lesions. These findings should alert the clinician for the potential presence of a verruca. In such cases, biopsy should be performed to enable specific diagnosis and treatment.

Disseminated punctate keratoderma: a rare case report and review of the literature.

We report a rare case of a 53-year-old womanpresenting with diffuse, late-onset disseminatedhyperkeratotic papules. Biopsy showed massivehyperkeratosis overlying a crateriform epidermaldepression and hypergranulosis with mild epidermalhyperplasia. There was no parakeratosis, cornoidlamella, or dyskeratosis. Based on the clinical findingsand histopathological features, a diagnosis ofdisseminated punctate keratoderma was made. Thisis a rare subtype of palmoplantar keratoderma, whichhas a putative increased risk of malignancy. This casereport emphasizes the importance of identifyingthe clinical and histological presentation of this rarecondition; referral of the patient for age-appropriatemalignancy screening is appropriate. We also presenta concise review of treatment options.

Case report: Treatment failure in a case of aquagenic syringeal acrokeratoderma.

Aquagenic syringeal acrokeratoderma (ASA) is a rare, acquired, recurrent, and transient type of keratoderma that may occur after a few minutes of exposure to water. Herein, an 18-year-old male patient who had bilateral swelling and whitish plaques on his palms and soles is presented. The lesions on soles and heels developed within short time of immersion in water and resolved after 30 min with drying. In this case, all treatment methods, previously described in the literature in similar cases (i.e., aluminum salts, urea-salicylic acid including ointments, iontophoresis, and botulinum toxin) were ineffective. ASA is a condition that has an adverse effect on life quality. Alternative treatments are needed in ASA cases who are resistant to treatment modalities mentioned in the literature.

Palmoplantar hyperkeratosis: a rare cutaneous manifestation of juvenile dermatomyositis.

We report the case of a 12-year-old girl with juvenile dermatomyositis (JDM). She had a 12-month history of palmoplantar hyperkeratosis that was initially treated as eczema. We wish to alert clinicians to this rare cutaneous manifestation of JDM.

Microwave Energy for the Treatment of Painful Intractable Plantar Keratosis: A Retrospective Medical Record Review of Nine Patients.

BACKGROUND: Plantar keratoma are common hyperkeratinized, deep-seated lesions, often located on weightbearing areas of the foot. Such lesions are frequently associated with pain and disability. Intractable plantar keratomata (IPK) are highly recurrent and, in most patients, require regular, palliative treatment visits with a significant impact on patient time, cost, and quality of life. METHODS: We undertook a retrospective chart review of 9 patients (with a total of 21 lesions) who underwent a minimum of two treatments using microwave therapy to their IPK. Pain levels were assessed at each of their treatments using a 10-point scale and patients were invited for review for follow-up in the following year. A total of seven patients undertook four treatments and were included in the final analysis. RESULTS: Mean baseline pain scores significantly dropped with each subsequent treatment, equating to a 90.4% mean reduction in pain between the first and fourth visits, with 71.4% of patients reporting a zero-pain rating at their final treatment visit. CONCLUSIONS: The use of microwave therapy has been shown to be effective in producing significant and prolonged pain reduction in a cohort of patients with painful IPK.

Late diagnosis of ectodermal dysplasia syndrome.

This case study reports the clinical, skin biopsy and molecular findings in a 56-year-old Filipino man with the autosomal recessive ectodermal dysplasia disorder, Schöpf-Schulz-Passarge syndrome, the precise nature of which was established only after reading of a similar case in this journal. In addition to the late diagnosis, successful clinical management of his acral hyperkeratosis and ulceration has been difficult, with oral retinoids exacerbating the skin fragility.

[Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet]. / Vohwinkel-Syndrom. Schwerhörigkeit und Keratosen an Hand und Fuß

The combination of sensorineural hearing loss and keratoderma on the hands and feet is rare. We report the case of a child that failed newborn hearing screening and also showed keratoderma on both hands and feet. The child's father exhibited the same constellation of symptoms, which is typical for mutilating keratoderma with deafness (Vohwinkel syndrome). This hereditary autosomal dominant disease is caused by mutation of the GJB2 gene that encodes the protein connexin 26. In our case it was highly likely that the GJB2 gene in the father carried a spontaneous mutation that was inherited by the daughter.

A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease.

We present a case of arrhythmogenic right ventricular cardiomyopathy (ARVC)-Naxos disease. The patient is 21-year-old male with no history of previous heart disease admitted in a private hospital for rhythm disorder in heart. The condition was diagnosed as ventricular tachycardia (VT) and was treated with cardioversion. The patient was referred to our hospital for further evaluation. On examination patient had palmoplantar keratoderma, wooly hair, and dystrophic nails. The cardiovascular system examination was clinically normal. His electrocardiogram showed epsilon wave in lead V1; echocardiography showed hypo-echogenic tissues in the right ventricular (RV) apex and free wall; magnetic resonance imaging (MRI) investigation revealed fibrofatty replacement of RV free wall and dyskinetic RV wall with diastolic outbulging.

Multidisciplinary management of Papillon-Lefevre syndrome as a result of consanguineous marriage.

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive syndrome, and consanguinity has been reported in 20%-40% of cases. It is characterised by palmoplantar hyperkeratosis associated with severe early-onset periodontitis and premature loss of primary and permanent teeth. This report describes a case of PLS in a female patient with consanguineously married parents. The patient reported mobile upper front teeth. Clinical examination revealed presence of marked palmoplantar hyperkeratosis.Symmetric, well-demarcated, yellowish, keratotic and confluent plaques were seen on the skin of her palms and soles. Intraoral periodontal examination revealed erythematous gingiva with generalised periodontal pockets. Generalised mobility of teeth was present with clinically missing lower anterior teeth. Based on clinical and radiographic feature and the patient's medical, dental and family history, a diagnosis of PLS was made.

Japanese guidelines for the management of palmoplantar keratoderma.

Palmoplantar keratoderma (PPK) is a collective term for keratinizing disorders in which the main clinical symptom is hyperkeratosis on the palms and soles. To establish the first Japanese guidelines approved by the Japanese Dermatological Association for the management of PPKs, the Committee for the Management of PPKs was founded as part of the Study Group for Rare Intractable Diseases. These guidelines aim to provide current information for the management of PPKs in Japan. Based on evidence, they summarize the clinical manifestations, pathophysiologies, diagnostic criteria, disease severity determination criteria, treatment, and treatment recommendations. Because of the rarity of PPKs, there are only few clinical studies with a high degree of evidence. Therefore, several parts of these guidelines were established based on the opinions of the committee. To further optimize the guidelines, periodic revision in line with new evidence is necessary.