Keratoderma Of Palms Research Articles

Pembrolizumab-Induced Lichen Planus in a Patient with Metastatic Pulmonary Giant Cell Carcinoma: A Case Report and Literature Review

Ιmmune checkpoint inhibitors (ICIs) have revolutionized the management of advanced cancers. Nevertheless, the oncologic response is often achieved at the cost of immune-related adverse events (irAEs). We present a case of an immune-mediated lichen planus (LP) and a literature review of similar cases. A 60-year-old man, who is being treated with pembrolizumab for a pulmonary giant cell carcinoma since April 2022, presented in November 2022 with a pruritic eruption that appeared two weeks ago. Examination showed bright purple confluent scaly papules on wrists, proximity of limbs, back and buttocks and palmar keratoderma made of violaceus papules covered with reticular white striae. Histological examination revealed an epidermal hyperplasia, vacuolization of the basal layer, necrotic keratinocytes and a band-like subepidermal lymphocytic infiltrate with many eosinophils. The diagnosis of an immune-related LP was retained. Pembrolizumab was withheld because of the severity and the extension of the lesions. Superpotent topical steroids were prescribed with a significant improvement of the rash within 3 weeks. Immune-mediated lichenoid euptions represent one of the most frequent dermatologic irAEs. In our patient, the onset seven months after the initiation of ICIs, the infiltrate rich in eosinophils, and the rapidly diffused character are indications of an immuno-mediated LP.

Congenital Teeth and Nail Changes with Palmar Keratoderma: A New Entity or a Rare Association?

Congenital Teeth and Nail Changes with Palmar Keratoderma: A New Entity or a Rare Association?

Lymphedema of the upper limb think of Kaposi sarcoma

A 58 year old man, heterosexual with no past medical-surgical history, came to the dermatology for oedema with skin disorders of the right upper limb evolving for 9 months. Clinical examination revealed a red oedema, firm and painful around the right upper limb with multiple purplish red papulo-nodular lesions (Figure 1). Confluent keratosic tuberous lesions on the right hand (Figure 2) and fissured palmar keratoderma (Figure 3) were seen. Buccal examination revealed violaceous papulo-nodular lesion (Figure 4).

Identification of clinically useful predictive genetic variants in pachyonychia congenita.

Pachyonychia congenita (PC) refers to a group of autosomal dominant disorders caused by mutations in five keratin genes (KRT16,KRT6A,KRT17,KRT6B or KRT6C). Current disease classification is based on the gene harbouring disease-causing variants. We harnessed the International Pachyonychia Congenita Research Registry (IPCRR) containing both clinical and molecular data on patients with PC worldwide, to identify genetic variants predicting disease severity. We ascertained 815 individuals harbouring keratin mutations registered in the IPCRR. We looked for statistically significant associations between genetic variants and clinical manifestations in a subgroup of patients carrying mutations found in at least 10% of the cohort. Data were analysed using χ2 and Kruskal-Wallis tests. We identified five mutations occurring in at least 10% of the patients registered in the IPCRR. The KRT16 p.L132P mutation was significantly associated with younger age of onset, presence of palmar keratoderma oral leucokeratosis and a higher number of involved nails. By contrast, the KRT16 p.N125S and p.R127C mutations resulted in a milder phenotype featuring a decreased number of involved nails and older age of onset. Patients carrying the p.N125S mutation were less likely to develop palmar keratoderma while p.R127C was associated with an older age of palmoplantar keratoderma onset. Moreover, the KRT17 p.L99P mutation resulted in an increased number of involved fingernails and patients demonstrating 20-nail dystrophy, while the opposite findings were observed with KRT17 p.N92S mutation. We have identified novel and clinically useful genetic predictive variants in the largest cohort of patients with PC described to date.

Analytical Pattern in Dermatoglyphics

Aim: The aim was to study the analytical pattern in dermatoglyphics.
 Materials and Methods: The study was conducted in Skin Opd, Sree Balaji Medical College and Hospital, Chennai, Tamil Nadu, India. A total of 100 participants with different hand dermatitis pattern were included in the study. All patients were subjected to: 1. Complete history, 2. Dermatological examination, 3. Finger print pattern of all the patients, 4. Informed consent.
 Results: This hospital-based study involved 100 patients with Psoriasis (47) Eczema (23) Dermatophytosis (12), Syphilis (3), Drug reaction (5) Palmar keratoderma. (10), the most common being psoriasis and eczema. In psoriasis patients, whorl pattern was the commonest (48.29%), followed by 31.43% loop, 21.43% arch and 2.86% composite pattern. In eczema patients, loop and whorl pattern was found in (44.74%) followed by 34.23% loop, 22.43% arch and 1.86% composite pattern.
 Conclusion: The palmar pattern intensities were increased in both sexes, while the digital pattern intensities were increased in males and decreased in females. TFRC was increased in males and decreased in female patients. In both cases and controls, TFRC was more in males than females. A-b count showed a significant reduction in both sexes.

SQUAMOUS CELL CARCINOMA ON MARGINAL PALMAR KERATODERMA: CASE REPORT

Marginal palmar keratoderma (MPK) is characterized by keratoderma on palm, on the limits of the dorsal and palmar regions of ulnar and radial edges in patients with intense sun exposure. According to literature it is not considered a pre-injury malignant lesion. Herein, we report the first case of squamous cell carcinoma (SCC) on MPK in a 57 year-old woman.

Olmsted Syndrome: a case report

Olmsted syndrome is a rare keratinisation disorder characterised by mutilating palmoplantar keratoderma with peri-orificial hyperkeratosis. Till now around 73 cases have been reported. We are reporting a case of 3 year old female child with keratoderma of palms and soles since birth along with peri-orificial hyperkeratosis flexion deformity of digits of palms hypotrichosis and onychodystrophy. There was no history of hyperhidrosis no dental abnormalities and no sensorineural hearing loss. Hence the diagnosis of Olmsted syndrome was made.

Skin Damage and Aesthetic Disadvantage Observed in Women in the Hand Craft Shelling Chain of Cashew Nuts in a Factory to Bobo-Dioulasso, Burkina Faso

Introduction: Occupational dermatitis has long been an unforeseen consequence of industrial progress. Today, most occupational diseases are dermatosis throughout the world. The morbidity and the various prejudices concern different actors, especially those of the cashew industry in Bobo-Dioulasso to Burkina Faso. We considered it appropriate to conduct this study in women who handle cashew nuts in the cashew nut shelling station at a factory. The aim is to contribute to the search for preventive and curative solutions adapted to this health risk. Methods: This was a prospective cross-sectional study with a descriptive purpose in May 2016. The study involved 112 women present in the factory in the shelling unit and having given their approval during our visit. This station is occupied by 118 women. Results: The prevalence of all dermatosis and dermatitis was estimated respectively at 98.21% and 88.39%. The manual shelling station with a shearing machine was exclusively occupied by illiterate women (72.3%) without personal protective equipment, with an average age of 33.74 ± 8.49 years. Among the clinical forms of contact dermatitis, the erythematous contact dermatitis was most observed (86.4%), followed by palmar keratoderma (70.9%), nail disorders (33.6%) and chemical burns (30%). The implication of Cashew Nut Shell Liquid (CNSL) was established with identified promoting factors. Aesthetic damage related to hand injuries had a significant psychosocial impact in 97.32% of cases. Discussion: Few studies exist on dermatitis and the health impacts in the reality of cashew because they reach vulnerable subjects without social welfare and health protection. The cashew nuts shell contains a highly irritating brown oily liquid. Dermatitis occurs during contact with this oily juice. The international literature reports this corrosive effect throughout the history of the chain. Human factors, technical factors and work environment aggravate the situation and compromize workwomen health. Conclusion: Cashew huskers had dermatitis with an impact on daily life. Working conditions and security of employment, hygiene attitudes and anacardic acid were identified as causes of this situation. It is imperious to take measures in collaboration with the occupational physicians to ensure these women’s health at work and improve their quality of life.

Dermoscopic features of aquagenic palmar keratoderma

Dermoscopic features of aquagenic palmar keratoderma

Kératodermie aquagénique palmaire chez une patiente hétérozygote pour la mutation c.3197G>C du gène CFTR

Aquagenic palmar keratoderma is an entity recently described in the literature by English and McCollough in 1996. It is a rare condition affecting young women and is of unknown incidence. It causes a wrinkled and oedematous appearance in the skin of the hands that may be seen a few minutes after immersion in water. This condition may be associated with a heterozygous mutation in CFTR, the gene involved in cystic fibrosis. We report the first case of aquagenic keratoderma associated with a new mutation in the CFTR gene. An 18-year-old patient with no particular history was referred for a painful rash on both palms occurring whenever she showered, and which had been ongoing for several months. The clinical examination was normal except for an appearance of moderate palmar hyperhidrosis. Following a test in which both hands were immersed in cold water for 5minutes, the patient presented itching, burning and pain localized to the hands. The palms were wrinkled and oedematous with white, translucent and confluent papules. A clinical diagnosis of aquagenic palmar keratoderma was made. Since this condition may be associated with mutations in the CFTR gene, a genetic study was performed for this patient and revealed the presence of a new mutation in the CFTR gene for cystic fibrosis in the heterozygous state inherited from her mother: c.3197G>C or p.Arg1066.Pro and a heterozygous polypyrimidic 5T variant inherited from her father. We report a new case of aquagenic palmar keratoderma in a patient heterozygous for a new mutation of the gene involved in cystic fibrosis. Several studies have shown association of aquagenic keratoderma with the CFTR gene for heterozygotes (carriers without cystic fibrosis), for patients with cystic fibrosis and for a patient presenting CFTRopathy with pancreatic insufficiency.

Verrucous Vulvar Lesions of Pachyonychia Congenita: It's not HPV

Pachyonychia congenita (PC) is a rare disorder of hyperkeratosis caused by mutations in one of five keratin genes. The characteristic lesions include plantar keratoderma, hypertrophic toenail and fingernail dystrophy, palmar keratoderma, epidermal cysts (steatocystomas), and oral leukokeratosis. This case describes the vulvar lesions of PC in an adolescent girl, lesions that can mimic the appearance of genital warts and have not previously been described in the literature.

Focal palmar keratoderma and leukokeratosis anogenitalis: an extremely rare genodermatosis associated with cytokeratine 17 mutation

Focal palmar keratoderma and leukokeratosis anogenitalis: an extremely rare genodermatosis associated with cytokeratine 17 mutation

Pachyonychia Congenita in Pediatric Patients

IMPORTANCE Nail dystrophy in early childhood often suggests a diagnosis of pachyonychia congenita (PC). No previous investigation has focused on the early signs of PC and the natural course of the disease. OBJECTIVES To determine the course of pediatric PC, correlate the disease course with the clinical appearance and specific gene mutations, and assess the effect of pediatric PC on quality of life. DESIGN, SETTING, AND PARTICIPANTS One hundred one patients or families with genetically confirmed PC from the International Pachyonychia Congenita Research Registry who completed a survey on the general clinical features of PC and an auxiliary questionnaire on the clinical presentation and quality-of-life issues related to pediatric PC. EXPOSURE Individuals with pachyonychia congenita. MAIN OUTCOMES AND MEASURES Completion of both surveys. RESULTS At birth, toenail changes were present in 47.5% of patients; fingernail changes in 40.6%; and plantar keratoderma in 6.9%. By 5 years of age, these 3 key manifestations were found in 81.2%, 74.2%, and 75.3%, respectively, of individuals with genotype-confirmed PC. The correct diagnosis was made during the first year of life in 26.7% of patients despite the presence of toenail dystrophy in more than 65.3%. Clinical differences that distinguished PC subtypes included (1) later onset and less frequent occurrence of nail dystrophy and keratoderma in PC-K6b, PC-K6c, and PC-K16; (2) concurrent fingernail and toenail thickening in PC-K6a and PC-K17; (3) more palmar keratoderma in PC-K16; (4) cysts primarily in PC-K17 and follicular hyperkeratoses primarily in PC-K6a; (5) hoarseness and/or oral leukokeratoses in the first year of life most often in PC-K6a; and (6) natal teeth exclusively in PC-K17. Among pediatric patients, PC affected the social interactions and function of adolescents most profoundly. CONCLUSIONS AND RELEVANCE Among patients with a detectable mutation, PC manifests with nail thickening and plantar keratoderma before school age in more than three-quarters of affected children, allowing early diagnosis. The highly visible nail changes and painful plantar thickening exert a psychosocial effect on most affected adolescents. Phenotype-genotype correlations in children with PC validate the new classification based on the affected gene.

Thinking outside the skin: Look at the thyroid for true diagnosis

Keratoderma is a group of disorders characterized by abnormal thickening of skin. Acquired palmar keratoderma has many underlying causes. The association of thyroid disease and palmar keratoderma rarely reported. Hypothyroidism, although very rare association, must be suspected in patients with acquired PPK, particularly when it occurs in setting of systemic symptoms or predisposing conditions.We report first case of acquired plantar keratoderma associated with undiagnosed hypothyroidism in Down syndrome.

Papillon–Lefevre Syndrome: A Case Report with Review of Literature

Papillon–Lefevre Syndrome(PLS) is a very rare syndrome of autosomal recessive inheritance characterised by palmar plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. The palmar plantar keratoderma typically has its onset between the ages of 1 and 4 years and severe periodontitis starts at the age of 3 or 4 years. The exact pathogenesis of these clinical events remains mainly speculative. An early diagnosis of the syndrome can help preserve the teeth by early institution of treatment, using a multidisciplinary approach. We report a case of 17-year- old female patient withPLS.

Aquagenic keratoderma. Two new case reports and a new hypothesis

Aquagenic keratoderma has been described as a transient condition affecting predominantly young females and defined clinically by the appearance of palmar hyper-wrinkling accentuated after immersion in water. We present two new cases with aquagenic palmoplantar acrokeratoderma – a child and a young male. A significant clinical improvement was achieved after topical treatment with aluminum salts. Aquagenic palmar keratoderma may be a clue to cystic fibrosis in adolescents and young adults. We developed a new hypothesis on its pathogenesis.

Striate palmar keratoderma and antiretroviral treatment for human immunodeficiency virus infection: not just a coincidence

Conflict of interest: none declared. A 49‐year‐old woman presented with an 18‐month history of a linear palmar hyperkeratotic rash. The patient was of West African origin. She had no history of any similar condition or of any other dermatological conditions. There was no family history and all the patient’s relatives were well, with no particular skin complaints. A few months before the onset of the rash, the patient had undergone a routine blood test as part of a job application, and this blood test had revealed a low lymphocyte count. Further blood tests confirmed that the patient was infected with HIV, and she was started on antiretroviral drugs. No other problems were recorded; in particular, the results of viral hepatitis and syphilis serology tests were negative. The patient’s initial treatment included a combination of zidovudine, lamivudine (both nucleoside analogue reverse transcriptase inhibitors; NRTIs) and efavirenz (a non‐nucleoside analogue reverse transcriptase inhibitor; NNRTI), which were well tolerated and successful in re‐establishing a normal lymphocyte count.

A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita

Pachyonychia congenita (PC) is a group of autosomal dominant keratinizing disorders caused by a mutation in one of 4 keratin genes. Previous classification schemes have relied on data from case series and case reports. Most patients in these reports were not genetically tested for PC. We sought to clarify the prevalence of clinical features associated with PC. We surveyed 254 individuals with confirmed keratin mutations regarding their experience with clinical findings associated with PC. Statistical comparison of the groups by keratin mutation was performed using logistic regression analysis. Although the onset of clinical symptoms varied considerably among our patients, a diagnostic triad of toenail thickening, plantar keratoderma, and plantar pain was reported by 97% of patients with PC by age 10 years. Plantar pain had the most profound impact on quality of life. Other clinical findings reported by our patients included fingernail dystrophy, oral leukokeratosis, palmar keratoderma, follicular hyperkeratosis, hyperhidrosis, cysts, hoarseness, and natal teeth. We observed a higher likelihood of oral leukokeratosis in individuals harboring KRT6A mutations, and a strong association of natal teeth and cysts in carriers of a KRT17 mutation. Most keratin subgroups expressed a mixed constellation of findings historically reported as PC-1 and PC-2. Data were obtained through questionnaires, not by direct examination. Patients were self- or physician-referred. We propose a new classification for PC based on the specific keratin gene affected to help clinicians improve their diagnostic and prognostic accuracy, correct spurious associations, and improve therapeutic development.

A Large Mutational Study in Pachyonychia Congenita

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by nail dystrophy and painful palmoplantar keratoderma. Additional clinical features include oral leukokeratosis, follicular keratosis, and cysts (steatocysts and pilosebaceous cysts). PC is due to heterozygous mutations in one of four keratin genes, namely, KRT6A, KRT6B, KRT16, or KRT17. Here, we report genetic analysis of 90 new families with PC in which we identified mutations in KRT6A, KRT6B, KRT16, or KRT17, thereby confirming their clinical diagnosis. A total of 21 previously unreported and 22 known mutations were found. Approximately half of the kindreds had mutations in KRT6A (52%), 28% had mutations in KRT16, 17% in KRT17, and 3% of families had mutations in KRT6B. Most of the mutations were heterozygous missense or small in-frame insertion/deletion mutations occurring within one of the helix boundary motif regions of the keratin polypeptide. More unusual mutations included heterozygous splice site mutations, nonsense mutations, and a 1-bp insertion mutation, leading to a frameshift and premature termination codon. This study, together with previously reported mutations, identifies mutation hotspot codons that may be useful in the development of personalized medicine for PC.

Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden

Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden