[[Translated article]]Congenital and Hereditary Nail Disease. / Enfermedad ungueal congénita y hereditaria.

Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and sometimes challenging. However, familiarity with these disorders can significantly contribute to uncovering potential underlying conditions.This review includes the physiological nail changes seen within the first few months of life, such as Beau's lines, onychoschizia, koilonychia, congenital nail fold hypertrophy of the first digit, and onychocryptosis. This review also focuses on the most relevant congenital disorders reported and how to perform differential diagnosis. Finally, this review highlights those hereditary diseases in which nail involvement is crucial for diagnosis, such as nail-patella syndrome, congenital pachyonychia, or congenital dyskeratosis, among others.

Median Canaliform Dystrophy of Heller in a Carpet Weaver: A New Risk Factor? - A Case Report.

Introduction: Median canaliform dystrophy of Heller (MCDH) is a rare nail disorder that typically affects the thumbnails and is characterized by transverse ridges radiating from a paramedian canal or split in the nail plate, bearing resemblance to a fir tree. Case Report: We report here a case of a 60-year-old woman of rural origin, a carpet weaver, with no specific medical history. She was referred due to nail dystrophy on her thumbs that had been progressing over the last 10 years. Clinical examination revealed the presence of a midline splitting with a fir tree-like appearance of ridges angled backwards and normal cuticle. These lesions were symmetrically present on both thumbnails and the big toe nail. Based on this presentation, a diagnosis of Heller's canaliform dystrophy was established. Conclusion: Although the pathophysiology of MCDH remains unclear, proposed mechanisms include keratinocyte adhesion abnormalities, genetic predisposition, and inflammation within the nail matrix. Risk factors encompass medications like oral retinoids and self-inflicted trauma, as seen in repetitive cuticle manipulation. In this case, the patient's nail dystrophy resulted from chronic local microtrauma due to her carpet weaving occupation, suggesting certain manual professions may contribute to MCDH development.

Dyskeratosis congenita: a rare case report.

Dyskeratosis congenita (DKC) is a rare genetic disorder characterized by lacy reticular skin hyperpigmentation, bone marrow failure, nail dystrophy, and oral leukoplakia. To the best of our knowledge, only around 200 cases were reported in the medical literature, and in this report, we present another distinctive case from Syria. This case report describes a male patient with generalized reticular pigmentation and abnormal nails since childhood. The patient reported a history of recurrent urethral stenosis and corneal density. Dermoscopic examination revealed pigmented lines arranged in a netlike pattern. Histopathological findings were nonspecific. Hematological values were unremarkable. A contrast CT scan revealed changes in the bladder wall. The final diagnosis of Dyskeratosis Congenita was made based on the clinical criteria. This disorder can present with additional cutaneous manifestations and systemic complications. Treatment are generally prescribed to maintain bone marrow function, based on the fact that it is the major cause of death. Regular monitoring and screening for associated conditions are recommended.

Congenital and Hereditary Nail Disease. / Enfermedad ungueal congénita y hereditaria.

Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and sometimes challenging. However, familiarity with these disorders can significantly contribute to uncovering potential underlying conditions. This review includes the physiological nail changes seen within the first few months of life, such as Beau's lines, onychoschizia, koilonychia, congenital nail fold hypertrophy of the first digit, and onychocryptosis. This review also focuses on the most relevant congenital disorders reported and how to perform differential diagnosis. Finally, this review highlights those hereditary diseases in which nail involvement is crucial for diagnosis, such as nail-patella syndrome, congenital pachyonychia, or congenital dyskeratosis, among others.

Subungual Verruca Vulgaris Mimicking Onychomycosis.

Nail abnormalities, or onychodystrophy, can be caused by various pathologies, including fungal and nonfungal infections. These can result in difficulties with nail trimming, pain, and social discomfort that can significantly impact a patient's quality of life. Even experienced physicians may find it challenging to diagnose due to the lack of specificity in these changes. We present the case of a 60-year-old female who was initially diagnosed with onychodystrophy but was later found to have subungual verruca vulgaris after a nail avulsion and biopsy. This case highlights the importance of thorough diagnostic procedures and considering a broad range of differential diagnoses. We also discuss the challenges of treating subungual warts and the need for a precise therapeutic approach to ensure the best possible outcomes.

Atypical Presentation of Pemphigus Vulgaris: Nail Involvement in a 20-Year-Old Male.

Pemphigus vulgaris (PV) mainly causes blistering of the skin and mucous membranes, with nail unit involvement being rare. Nail involvement may serve as an indicator of disease severity. We present a case of a 20-year-old male with PV who had both cutaneous and nail findings, with nail changes corresponding with disease severity. The patient with biopsy-confirmed PV, on prednisone and mycophenolate, presented to the emergency department with an acute flare of PV and severe mandibular pain and lymphadenopathy. At follow-up in our outpatient department, the physical examination was significant for onychomadesis and onycholysis of the fingernails. Prednisone and mycophenolate dosages were increased, and rituximab infusions were initiated. Bullae and mucosal lesions resolved on the follow-up, and nail changes improved. This case appends an unusual perspective to the limited literature on PV-associated nail changes, especially in younger patients. It advocates for meticulous history taking and physical examination and supports a correlation between nail symptoms and PV disease severity.

Nail dystrophy for the surgeon.

Injuries to the fingertips are the most frequently occurring damage to the hand. The nail is an exceptional structure within the human body that offers both stability and protection, as well as the ability to perform fine and precise movements. Nail dystrophies are numerous, post-traumatic, post-infection or even degenerative. They raise many difficulties for the treating hand surgeon. Which anatomical structure is dystrophic? Is there any secondary fungal superinfection to be treated before surgery? Among the various techniques proposed, which one will help to improve my patient as a complete cure is rarer than partial failures. In this chapter we have chosen to describe the surgical techniques, their difficulties and drawbacks, that are available for the most frequent dystrophies that the hand surgeons may treat.

Successful Treatment of Dystrophic Nails Caused by Onychotillomania Using Pulsed Dye Laser 595 nm: A Case Report.

Onychotillomania is characterized by an irresistible urge to pick or pull at one's nails, resulting in significant damage to the nail and surrounding tissue. In severe cases, it can cause onychodystrophy, which leads to abnormal changes in nail shape, color, texture, and growth. Managing onychotillomania can be challenging due to the lack of standard treatment and concurrent behavioral disorders. Pharmacotherapy and behavioral therapy have shown some positive outcomes from reported cases. The treatment for onychodystrophy varies depending on the underlying cause and may entail the application of topical, systemic, or laser therapies. Nevertheless, there is currently no consensus on the most effective treatment approach. This report presents a case of onychodystrophy caused by onychotillomania successfully treated using a pulsed dye laser 595 nm. The treatment was administered four times, with a two-week interval between sessions. Significant improvement was seen within four weeks of starting the treatment, and by the end of the eight-week program, the dystrophic thumbnails had almost completely resolved. After a thorough ten-month follow-up, it has been determined that the dystrophic nails have not reappeared. Moreover, there has been a significant decrease in the patient's tendency to pull her nails.

Unlocking potential: clinical benefits of enlarging the nail bed explored through continuous W-shaped incisions.

PURPOSE: Nail bed atrophy, a common condition for which conservative treatments have limited efficacy, continues to present challenges in determining the optimal surgical intervention. This study introduces a novel technique for nail bed expansion. MATERIALS AND METHODS: A total of 34 patients with nail bed atrophy, selected between 2015 and 2020 (ChiCTR2000036232), were randomized into a control group (n = 17) and a surgical group (n = 17). While no specialized treatment was administered to the control group, the surgical group underwent continuous W-shaped incisions on the ventral side of the digits. RESULTS: Following a 12-month follow-up period, changes in nail bed height, width, area, esthetic satisfaction, pain levels, and tactile sensation were assessed in both groups. In the surgical group, the height, width, and area of the nail bed increased significantly by 1.50 ± 0.49 times, 1.16 ± 0.23 times, and 1.69 ± 0.60 times, respectively, compared to the preoperative measurements. The newly-formed nail plate exhibited improved esthetics, characterized by its smoothness and transparency, a marked improvement over the control group (p < 0.05). Furthermore, this surgical approach showed significant effects, regardless of whether it was applied to fingers or toes. CONCLUSION: The continuous W-shaped incision technique demonstrated substantial benefits and could be a practical therapeutic approach for nail bed enlargement.

Risk Factors and Treatment Trends for Onychomycosis: A Case-Control Study of Onychomycosis Patients in the All of Us Research Program.

Introda significant: Onychomycosis is the most common nail disorder seen in clinical practice, and it may have significant impact on patient quality of life. Understanding risk factors for onychomycosis may help to devise screening and treatment guidelines for populations that are more susceptible to this infection. Using a national database, we aimed to explore associations between onychomycosis and age, sex, and underlying medical conditions, as well as to examine current onychomycosis treatment trends. Materials and Methods: We performed a nested, matched, case-control study of patients in the All of Us database aged ≥ 18 years (6 May 2018-1 January 2022). Onychomycosis cases were identified using International Classification of Diseases (ICD) and Systematized Nomenclature of Medicine (SNOMED) diagnostic codes (ICD-9 110.1, ICD-10 B35.1, SNOMED 414941008). Demographic information (i.e., age, sex, and race), treatments, and co-diagnoses for onychomycosis patients and case-controls were recorded. Wald's test applied to multivariate logistic regression was used to calculate odds ratios and p-values between onychomycosis and co-diagnoses. Additionally, 95% confidence intervals were calculated with a proportion test. Results: We included 15,760 onychomycosis patients and 47,280 matched controls. The mean age of onychomycosis patients was 64.9 years, with 54.2% female, 52.8% Non-Hispanic White, 23.0% Black, 17.8% Hispanic, and 6.3% other, which was similar to controls. Patients with onychomycosis vs. controls were more likely to have a co-diagnosis of obesity (46.4%, OR 2.59 [2.49-2.69]), tinea pedis (21.5%, OR 10.9 [10.1-11.6]), peripheral vascular disease (PVD) (14.4%, OR 3.04 [2.86-3.24]), venous insufficiency (13.4%, OR 3.38 [3.15-3.59]), venous varices (5.6%, OR 2.71 [2.47-2.97]), diabetes mellitus (5.6%, OR 3.28 [2.98-3.61]), and human immunodeficiency virus (HIV) (3.5%, OR 1.8 [1.61-2.00]) (p < 0.05, all). The most frequently prescribed oral and topical medications were terbinafine (20.9%) and ciclopirox (12.4%), respectively. The most common therapeutic procedure performed was debridement (19.3%). Over the study period, ciclopirox prescriptions (Spearman correlation 0.182, p = 0.0361) and fluconazole prescriptions increased (Spearman correlation 0.665, p = 2.44 × 10-4), and griseofulvin (Spearman correlation -0.557, p = 0.0131) and itraconazole prescriptions decreased (Spearman correlation -0.681, p = 3.32 × 10-6). Conclusions: Our study demonstrated that age, obesity, tinea pedis, PVD, venous insufficiency, diabetes mellitus, and HIV were significant risk factors for onychomycosis. In addition, the most frequent oral and topical onychomycosis medications prescribed were terbinafine and ciclopirox, likely reflective of efficacy and cost considerations. Identifying and managing these risk factors is essential to preventing onychomycosis' primary infections and recurrences and improving treatment efficacy.

Appearance Outcomes of Repositioned Native Nail Plate as a Free Graft and Artificial Nail Plate in the Reconstruction of the Fingertip Injuries.

Purpose: The aim of this study was to evaluate the cosmetic outcomes of native nail plate (NP) replacement as a free graft and using an artificial NP in reconstruction of the fingertip injuries. Methods: Two prospective cohorts of patients with fingertip injuries and avulsed NPs were evaluated. In group 1 (54 patients with 61 fingertip injuries), the native NP was available and suitable for placement under the proximal nail fold. In group 2 (31 patients with 32 fingertip injuries), the native NP was either lost or highly damaged and it was not suitable for use. In this group, an artificial NP was used. The final cosmetic outcomes of regrown NPs were evaluated at a minimum of 4 months after surgery using the Oxford Finger Nail Appearance Score. Results: "Trapped in a door" was the most common cause of injury in pediatric patients, whereas work-related injuries were the most common cause of injury in adults. The difference between the mean appearance scores of the two groups favored group 1 (native NP). There was a negative correlation between the patient age and appearance scores, irrespective of the treatment group. The presence of a distal phalanx fracture adversely affected the appearance scores. Conclusions: Replacing the native NP for splinting in fingertip injuries is advantageous. Fingertip injuries in pediatric patients and fingertip injuries without distal phalanx fractures achieved better cosmesis scores. Type of study/level of evidence: Therapeutic III.

Onychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review.

Introduction: Onychodystrophy has been described in association with certain bone disorders, including Nail-Patella Syndrome, Hutchinson-Gilford Progeria Syndrome, Coffin-Siris Syndrome, and congenital brachydactyly. However, nail changes associated with multiple epiphyseal dysplasia (MED) has not been documented. Case Presentation: An 11-year-old male with history of MED presented with thickened, dystrophic appearing fingernails. Physical examination was significant for fingernail longitudinal ridges and grooves, thinning, and distal splitting. Dermoscopy revealed superficial desquamation. Nail clippings were negative for microbial pathogens. Hand X-rays showed brachydactyly, shortening of the metacarpals, and sclerotic epiphyses of the bilateral 5th distal phalanges and right 2nd distal phalanx. Conclusion: This is the first documented case of MED with onychodystrophy, supporting the link between phalangeal formation and nail development. It is important to perform a careful examination of the nail units in patients with skeletal dysplasia and screen patients with characteristic and unexplained nail changes for bony changes. Living with skeletal disease is extremely challenging, and treatment of associated nail disease can improve quality of life for these patients.

Prevalence of pesticide related occupational diseases among Indonesian vegetable farmers - A collaborative work.

Objective: This study was done to understand the prevalence of various occupational diseases including dry eyes, nail dystrophy, and neuropathy related to pesticide exposure in Indonesian local vegetable farmers. Methods: The data were collected through questionnaires and physical examination involving dermatology, neurology, and ophthalmology domains at Ngablak District, Magelang, Central Java directed to local vegetable farmers. Ocular Surface Disease Index (OSDI) questionnaire and the Schirmer test were used. Analysis was done using descriptive statistics using the Statistical Package for the Social Sciences (SPSS 21.0) and presented in tables. Results: Inadequate spraying equipment and improper storage of pesticides were found. Out of 105 farmers, 41.9 % experienced occupational skin diseases (OSD). Definite cognitive impairments were found in 3.4 % of subjects but probable in 28.3 % of subjects. Neuropathies were found in 61.7 % of subjects, and dry-eyes syndrome were found in 28.78 % of subjects. Conclusion: There was a high prevalence of peripheral neuropathy and tremor, dry eyes syndrome in one-third of the population, and the most common skin problem was nail discoloration, with a low incidence of contact dermatitis.

Phenotype and genotype features of Vietnamese children with pachyonychia congenita.

BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). PC is an extremely rare condition. To our knowledge, this is the largest genotype-phenotype study of PC in a Vietnamese population to date. MATERIALS AND METHODS: We investigated keratin gene mutations and clinical features of seven Vietnamese children with PC. RESULTS: The seven Vietnamese patients were from six different families (two patients in the same family) from across Northern, Central, and Southern Vietnam. All children displayed PC symptoms before 1 year of age, but diagnosis was delayed in 4/7 patients. Thick fingernails, thick toenails, oral leukokeratosis, and follicular hyperkeratosis were the most common features recorded by all seven patients. Plantar keratoderma and thick fingernails were the clinical features associated with the most significant effect on daily function. All patients had mutations in KRT6A (PC-K6a) focused on the 1A and 2B domains. We found three distinct types of mutations (K6a R466P, K6a N171K, and K6a N172del). One mutation (N172del) was common to 5/7 (71.4%) of the patients. CONCLUSIONS: Individuals displaying nail dystrophy, oral leukokeratosis, follicular hyperkeratosis, and plantar keratoderma should be referred for genetic testing given the high likelihood of a PC-K6a-related mutation in patients with this constellation of clinical signs.